Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TNFRSF10C	8794	broad.mit.edu	37	8	22974347	22974347	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:22974347G>A	ENST00000356864.3	+	5	1115	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.E93K	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	195					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)		CCCAGCTGCTGAAGAGACAAT	0.622000													4	46					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123871035	123871035	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chrX:123871035C>T	ENST00000422452.2	-	4	611	c.548G>A	c.(547-549)aGc>aAc	p.S183N	TENM1_ENST00000371130.3_Missense_Mutation_p.S183N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTGTGTGGGCTGCTCTGCAC	0.547000													9	10					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37989950	37989950	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:37989950G>A	ENST00000199448.4	+	3	1006	c.627G>A	c.(625-627)acG>acA	p.T209T	EPDR1_ENST00000476620.1_Silent_p.T107T|EPDR1_ENST00000559325.1_Silent_p.T329T|EPDR1_ENST00000425345.1_Silent_p.T148T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	209					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CTCCAAGCACGTGCCAGATGG	0.542000													94	18					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558479	143558479	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:143558479C>G	ENST00000517894.1	+	5	1956	c.1062C>G	c.(1060-1062)gaC>gaG	p.D354E	BAI1_ENST00000323289.5_Missense_Mutation_p.D354E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	354	TSP type-1 2.				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)					CTGCAGGTGACCCAGCAGCCG	0.711000													7	11					0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74438582	74438582	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr14:74438582C>T	ENST00000334696.6	-	14	1376	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	ENTPD5_ENST00000557325.1_Missense_Mutation_p.E353K	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	353					'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)		TCAAAATCTTCAACTTTTAAA	0.393000													47	83					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403000													4	122					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	79245667	79245667	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr16:79245667G>A	ENST00000566780.1	+	9	1585	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	WWOX_ENST00000406884.2_Missense_Mutation_p.E227K|WWOX_ENST00000539474.2_3'UTR|WWOX_ENST00000402655.2_Missense_Mutation_p.R191K	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	407	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCTGATCCAAGAACGGCTTGG	0.642000													15	17					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:51096317G>A	ENST00000395542.2	-	12	2906	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	COBL_ENST00000265136.7_Missense_Mutation_p.R826W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826										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)					AGGGGGTTCCGGCCCTCATGG	0.622000													7	34					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54959844	54959844	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chrX:54959844G>A	ENST00000375006.3	-	14	1478	c.1408C>T	c.(1408-1410)Cac>Tac	p.H470Y	PFKFB1_ENST00000545676.1_Missense_Mutation_p.H405Y|PFKFB1_ENST00000374992.2_Missense_Mutation_p.H270Y	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	470	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCTCAGTAGTGGGCTGGGACA	0.537000													7	42					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2116110	2116110	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr6:2116110C>T	ENST00000380815.4	-	4	509	c.240G>A	c.(238-240)atG>atA	p.M80I	GMDS_ENST00000530927.1_Missense_Mutation_p.M50I	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	80					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		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)		AGTGCAACTTCATGTCTTCAG	0.388000													27	30					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968694	62968694	+	RNA	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:62968694C>G	ENST00000430983.1	-	0	1550					NR_026903.1																						TTCCACAAGTCTCTTGGGTAA	0.373000													9	74					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130912766	130912766	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr12:130912766C>T	ENST00000261655.4	-	12	2482	c.2319G>A	c.(2317-2319)ggG>ggA	p.G773G		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	773						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)		GCCTCCTTCCCCCATCTTCCA	0.617000													26	18					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149545319	149545319	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:149545319G>T	ENST00000223210.4	+	4	982	c.737G>T	c.(736-738)gGg>gTg	p.G246V		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TACCCCCCAGGGCCTCTGGGA	0.582000													13	5					4.3838e-07	4.56458e-07	1	1	0
CCDC68	80323	broad.mit.edu	37	18	52605223	52605223	+	Missense_Mutation	SNP	C	C	G	rs148856264		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr18:52605223C>G	ENST00000591504.1	-	5	584	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	CCDC68_ENST00000432185.1_Missense_Mutation_p.E104Q|CCDC68_ENST00000337363.4_Missense_Mutation_p.E104Q	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	104										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTGTTCATTTCTAAGAGCTGT	0.348000													5	33					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28413643	28413643	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr15:28413643C>T	ENST00000261609.7	-	67	10431	c.10323G>A	c.(10321-10323)gcG>gcA	p.A3441A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3441					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)		GACTAGCCATCGCAGATGCGT	0.572000													31	62					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28610152	28610152	+	Silent	SNP	C	C	T	rs146109614		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr13:28610152C>T	ENST00000380982.4	-	11	1419	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	FLT3_ENST00000537084.1_Silent_p.S446S|FLT3_ENST00000241453.7_Silent_p.S446S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	446					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)	CCTGACTTGCCGATGCTTCTG	0.458000			"""Mis, O"""		"""AML, ALL"""								25	151					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	36					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116418932	116418932	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:116418932G>A	ENST00000397752.3	+	17	3643	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q	MET_ENST00000539704.1_Missense_Mutation_p.R18Q|MET_ENST00000318493.6_Missense_Mutation_p.R1166Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1148	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.R1166Q(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)			ATCTGCCTGCGAAGTGAAGGG	0.448000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				52	243					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22974392	22974392	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:22974392G>A	ENST00000356864.3	+	5	1160	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	TNFRSF10C_ENST00000540813.1_Missense_Mutation_p.E108K	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	210					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)		CCCAGCTGCTGAAGAGACAAT	0.612000													9	43					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135787687	135787687	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr9:135787687C>T	ENST00000298552.3	-	9	1116	c.895G>A	c.(895-897)Gac>Aac	p.D299N	TSC1_ENST00000545250.1_Missense_Mutation_p.D248N|TSC1_ENST00000440111.2_Missense_Mutation_p.D299N|TSC1_ENST00000403810.1_Missense_Mutation_p.D299N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	299					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		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)		TTCTGTGTGTCAGCATAAGGG	0.418000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				18	15					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87968274	87968274	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr4:87968274T>C	ENST00000307808.6	+	3	986	c.566T>C	c.(565-567)gTg>gCg	p.V189A	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.V196A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	189						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGTGCTTCGGTGACAGATTCG	0.547000													26	77					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33246625	33246625	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:33246625C>G	ENST00000327671.5	-	4	1699	c.1068G>C	c.(1066-1068)aaG>aaC	p.K356N	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.K328N|FUT10_ENST00000335589.3_Missense_Mutation_p.K294N|FUT10_ENST00000518672.1_Missense_Mutation_p.K328N	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	356					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|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)		AGATCTCACCCTTCAGCTTCC	0.463000													43	76					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784730	54784730	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chrX:54784730G>A	ENST00000218436.6	-	8	1806	c.1777C>T	c.(1777-1779)Ctc>Ttc	p.L593F		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	593					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GACAGGTTGAGGACTTTGGCA	0.557000													8	16					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179333819	179333819	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr3:179333819C>G	ENST00000259037.3	+	3	376	c.262C>G	c.(262-264)Ctg>Gtg	p.L88V	NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000472629.1_Missense_Mutation_p.L76V|NDUFB5_ENST00000473500.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	88					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTTCATAACTCTGGTGAATGT	0.338000													21	41					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15886128	15886128	+	Silent	SNP	G	G	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:15886128G>C	ENST00000375847.3	+	8	1295	c.1131G>C	c.(1129-1131)gtG>gtC	p.V377V	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.V377V|DNAJC16_ENST00000375838.1_Silent_p.V377V	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	377					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)		TCTGCCCTGTGAAACGGTCGC	0.433000													35	98					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052355	15052355	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:15052355G>A	ENST00000248072.3	+	1	55	c.55G>A	c.(55-57)Gag>Aag	p.E19K		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	19					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)					GGGATTCGCAGAGGACTCTGA	0.507000													8	36					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726726	39726726	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr12:39726726C>A	ENST00000395670.3	-	19	3090	c.2671G>T	c.(2671-2673)Gcc>Tcc	p.A891S	KIF21A_ENST00000361418.5_Missense_Mutation_p.A891S|KIF21A_ENST00000361961.3_Missense_Mutation_p.A878S|KIF21A_ENST00000544797.2_Missense_Mutation_p.A878S|KIF21A_ENST00000541463.2_Missense_Mutation_p.A855S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	891					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)				GTTGGTAAGGCCTGGACTCTC	0.473000													9	40					4.68919e-08	4.93342e-08	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114401987	114401987	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:114401987C>T	ENST00000359785.5	-	2	318	c.183G>A	c.(181-183)aaG>aaA	p.K61K	PTPN22_ENST00000525799.1_Silent_p.K61K|PTPN22_ENST00000528414.1_Silent_p.K61K|PTPN22_ENST00000420377.2_Silent_p.K61K|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000460620.1_Silent_p.K61K|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	61	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		GCAAAATATCCTTATATCTGT	0.373000													41	203					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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	8					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27873908	27873908	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:27873908C>T	ENST00000374011.2	-	6	5687	c.4719G>A	c.(4717-4719)gcG>gcA	p.A1573A	AHDC1_ENST00000247087.5_Silent_p.A1573A	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1573							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)		GGCCAGGATGCGCCTGGGGCA	0.662000													3	71					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32408215	32408215	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chrX:32408215T>A	ENST00000357033.4	-	31	4523	c.4317A>T	c.(4315-4317)agA>agT	p.R1439S	DMD_ENST00000378677.2_Missense_Mutation_p.R1435S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1439	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)				GAGACAGGACTCTTTGGGCAG	0.398000													23	51					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211123	59211123	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr11:59211123T>C	ENST00000302030.2	+	1	507	c.482T>C	c.(481-483)aTc>aCc	p.I161T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	161					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						AGCTCCCTGATCCAGGCCAGC	0.562000													4	178					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079770	128079770	+	Silent	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:128079770C>G	ENST00000409947.1	-	12	1179	c.897G>C	c.(895-897)gtG>gtC	p.V299V	MAP3K2_ENST00000344908.5_Silent_p.V299V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	299					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GACTGAAACTCACAGGAGACC	0.403000													6	14					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853894	40853894	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr18:40853894C>G	ENST00000255224.3	-	2	868	c.500G>C	c.(499-501)aGa>aCa	p.R167T	SYT4_ENST00000590752.1_Missense_Mutation_p.R149T|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	167	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AAATGCTTTTCTCTCGAAGTT	0.458000													12	63					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362651	10362651	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:10362651C>T	ENST00000255381.2	-	15	1614	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	502	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TTGTACTCTTCCTGCTCCAGC	0.488000													4	107					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138417299	138417299	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:138417299T>C	ENST00000409968.1	+	25	4619	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	THSD7B_ENST00000272643.3_Missense_Mutation_p.F1484L|THSD7B_ENST00000543459.1_Silent_p.L315L|THSD7B_ENST00000413152.2_Missense_Mutation_p.F1453L					thrombospondin, type I, domain containing 7B											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)		CAGAAAACCTTTCTCCTACTG	0.498000													3	6					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063232	41063232	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:41063232G>A	ENST00000352632.3	+	26	5679	c.5593G>A	c.(5593-5595)Gag>Aag	p.E1865K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1865K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E541K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1865K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E608K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1865K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1865					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.E1865K(1)		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)			CACCCCGCCTGAGCCGAGACC	0.652000													11	35					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47109314	47109314	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:47109314C>G	ENST00000290341.3	+	5	714	c.380C>G	c.(379-381)tCc>tGc	p.S127C	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.S127C	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	127	RRM 2.				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			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCACCTATTCCAACCGGGAG	0.572000											OREG0024529	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	122					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591799	7591799	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:7591799G>A	ENST00000264079.6	+	4	683	c.558G>A	c.(556-558)ccG>ccA	p.P186P		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	186				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).	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						ACATTGATCCGATGGTGGTTA	0.597000													3	43					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102445745	102445745	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr14:102445745C>G	ENST00000360184.4	+	3	598	c.434C>G	c.(433-435)cCc>cGc	p.P145R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	145	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			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						GAAGACTCGCCCTACGAAACT	0.433000													46	88					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772976	5772976	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr9:5772976C>T	ENST00000414202.2	+	25	4070	c.3879C>T	c.(3877-3879)atC>atT	p.I1293I	KIAA1432_ENST00000418622.3_Silent_p.I1214I|KIAA1432_ENST00000449720.2_Silent_p.I1177I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1293						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)		CCTCAATAATCAATCAGATTT	0.428000													25	32					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531030	97531030	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:97531030T>C	ENST00000305476.5	-	7	677	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	182	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGGAAGTTGTTGAGTGTGGC	0.562000													8	21					0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122690872	122690872	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr12:122690872C>A	ENST00000324189.4	+	3	430	c.74C>A	c.(73-75)gCg>gAg	p.A25E	B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_5'UTR	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	25					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)		CAGGGACCGGCGATGCTCTGC	0.657000													12	30					1.3612e-06	1.40287e-06	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9001417	9001417	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr12:9001417C>T	ENST00000299698.7	+	16	2115	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	A2ML1_ENST00000539547.1_Silent_p.L154L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	489						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						CTCAGCCCCTCATTGACCCAA	0.532000													36	135					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342525	60342525	+	RNA	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:60342525C>G	ENST00000581291.1	-	0	1628																				breast(2)|kidney(1)|lung(2)	5						GCCGGGAAGTCCATGCCCACG	0.642000													8	31					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34511907	34511907	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr6:34511907G>T	ENST00000374037.3	-	2	740	c.326C>A	c.(325-327)cCc>cAc	p.P109H	SPDEF_ENST00000544425.1_Missense_Mutation_p.P109H	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	109					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						CAGCCCGCCGGGCACCAAGTC	0.667000													8	24					0.000157383	0.000158957	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158047901	158047901	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:158047901G>A	ENST00000368173.3	+	3	727	c.323G>A	c.(322-324)cGc>cAc	p.R108H	KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000359209.6_Missense_Mutation_p.R108H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R108H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R47H	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	108	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCGCCCTGCGCTCTCGGCGG	0.617000													31	72					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132020957	132020957	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:132020957C>T	ENST00000356920.5	+	15	2023	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	643							ATP binding										AAGAAAAAGACGTCTTGCATG	0.343000													7	25					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270015	114270015	+	Silent	SNP	A	A	G	rs146945410	byFrequency	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:114270015A>G	ENST00000393500.3	+	11	1147	c.327A>G	c.(325-327)caA>caG	p.Q109Q	FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q			O15409	FOXP2_HUMAN	forkhead box P2	184	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	chromatin binding|DNA bending activity|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						agcagcagcaacagcagcagc	0.502000													6	252					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79846411	79846411	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:79846411C>T	ENST00000331204.4	-	4	592	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	ALYREF_ENST00000505490.2_Missense_Mutation_p.R196Q	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	189	Ala/Arg/Gly-rich.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										TGCAGGCCTCCGCTGTGCGTC	0.592000													3	10					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78362424	78362424	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:78362424C>G	ENST00000582970.1	+	64	15078	c.14935C>G	c.(14935-14937)Ctg>Gtg	p.L4979V	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L3052V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_Missense_Mutation_p.L5028V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	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)			AATACCCACTCTGGTGTACAG	0.423000													142	110					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061850	29061850	+	RNA	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:29061850C>T	ENST00000582557.1	+	0	770																											ATAACATGGTCTCGGTTGATA	0.318000													24	20					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117662862	117662862	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr12:117662862C>T	ENST00000317775.6	-	25	4470	c.3785G>A	c.(3784-3786)cGa>cAa	p.R1262Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1296Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1262					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	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1262Q(2)		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)	CCAGAAGCTTCGGAAAGGGGC	0.617000													30	99					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99040642	99040642	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr13:99040642C>T	ENST00000376586.2	+	9	1101	c.765C>T	c.(763-765)ttC>ttT	p.F255F	FARP1_ENST00000595437.1_Silent_p.F255F|FARP1_ENST00000319562.6_Silent_p.F255F			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	255	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			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)			TTTAGGGTTTCACTAAGATCA	0.483000													25	44					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33246906	33246906	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:33246906C>T	ENST00000327671.5	-	4	1418	c.787G>A	c.(787-789)Gat>Aat	p.D263N	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.D235N|FUT10_ENST00000335589.3_Missense_Mutation_p.D201N|FUT10_ENST00000518672.1_Missense_Mutation_p.D235N	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	263					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|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)		CCATCGGCATCCATAGAGGCT	0.438000													24	64					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158096	190158096	+	Silent	SNP	G	G	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr3:190158096G>T	ENST00000354905.2	-	4	307	c.241C>A	c.(241-243)Cga>Aga	p.R81R		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	81						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	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;0.0176)		GAATCAATTCGGGGTCTCCTC	0.512000													8	72					0.00307968	0.00307968	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222442	140222442	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr5:140222442G>A	ENST00000531613.1	+	1	1536	c.1536G>A	c.(1534-1536)acG>acA	p.T512T	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T512T|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCACACGGAGAGCGGCA	0.697000													63	47					0	0	1	0	0
MLLT4-AS1	653483	broad.mit.edu	37	6	168226837	168226837	+	RNA	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr6:168226837C>T	ENST00000359760.5	-	0	552					NR_027906.1																						CCGTCCAGATCCAGCACTGCA	0.701000													20	70					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137500536	137500536	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr5:137500536C>A	ENST00000254900.5	-	12	1969	c.1598G>T	c.(1597-1599)aGt>aTt	p.S533I	BRD8_ENST00000402931.1_Missense_Mutation_p.S533I|BRD8_ENST00000230901.5_Missense_Mutation_p.S606I|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.S492I|BRD8_ENST00000411594.2_Missense_Mutation_p.S536I	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	533					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	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)			TGGCTCCATACTTGTGGCTGG	0.517000													37	24					1.36161e-19	1.47874e-19	1	1	0
GSTK1	373156	broad.mit.edu	37	7	142961763	142961763	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:142961763G>C	ENST00000479303.1	+	3	335	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000409500.3_Missense_Mutation_p.E93Q|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000358406.5_Missense_Mutation_p.E93Q	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	93						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TGTGATGCTTGAAAAAGGTGA	0.478000													70	132					0	0	1	0	0
ASB13	79754	broad.mit.edu	37	10	5682738	5682738	+	Silent	SNP	G	G	A	rs146830492		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr10:5682738G>A	ENST00000357700.6	-	6	791	c.765C>T	c.(763-765)ggC>ggT	p.G255G	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	255	SOCS box.				intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCCCTCGGACGCCAGTGGCCT	0.537000													3	56					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700046	77700046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr4:77700046C>T	ENST00000296043.6	+	11	6660	c.5707C>T	c.(5707-5709)Cga>Tga	p.R1903*	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1903	ASD2.				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)			TCGCAGGGAGCGAGTAGTGCT	0.537000													14	30					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91356876	91356876	+	Silent	SNP	G	G	A	rs139792854	by1000genomes	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr14:91356876G>A	ENST00000261991.3	-	14	1964	c.1791C>T	c.(1789-1791)aaC>aaT	p.N597N	RPS6KA5_ENST00000536315.2_Silent_p.N518N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	597	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CATCGTAGCCGTTCTGATTCA	0.473000													11	37					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277995	114277995	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr4:114277995T>A	ENST00000357077.4	+	38	8274	c.8221T>A	c.(8221-8223)Tcc>Acc	p.S2741T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2708T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2708					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)		AGATTCTGAATCCCATTTAGC	0.408000													17	59					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137707473	137707473	+	Missense_Mutation	SNP	G	G	A	rs147868179	byFrequency	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr9:137707473G>A	ENST00000371817.3	+	51	4480	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1356	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)		GCCTGGCCCCGCGGTAGGTGC	0.607000													3	6					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744566	70744566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:70744566G>A	ENST00000260126.4	-	2	1049	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	SLCO5A1_ENST00000524945.1_Nonsense_Mutation_p.Q115*|SLCO5A1_ENST00000530307.1_Nonsense_Mutation_p.Q115*|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CTTCTCTCCTGGAGCATGGCC	0.597000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33310761	33310761	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:33310761G>A	ENST00000327671.5	-	3	980	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	FUT10_ENST00000518672.1_Missense_Mutation_p.H89Y|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.S42L|FUT10_ENST00000524021.1_Missense_Mutation_p.H89Y	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	117					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|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)		TTGGTCATGTGATGATGGAGG	0.512000													15	32					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44567879	44567879	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr20:44567879G>A	ENST00000372409.3	+	4	514	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	50	WW.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CAGGCTGGGAGAAGTGCTGGA	0.622000													9	11					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876654	148876654	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:148876654G>A	ENST00000420008.2	+	6	1965	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	ZNF398_ENST00000483892.1_Missense_Mutation_p.E393K|ZNF398_ENST00000491174.1_Missense_Mutation_p.E393K|ZNF398_ENST00000335901.4_Missense_Mutation_p.E393K|ZNF398_ENST00000540950.1_Missense_Mutation_p.E569K|ZNF398_ENST00000426851.2_Missense_Mutation_p.E393K|ZNF398_ENST00000475153.1_Missense_Mutation_p.E564K	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	564					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCACACCGGGGAGCGGCCCTA	0.612000													23	21					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7008609	7008609	+	Splice_Site	SNP	T	T	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr18:7008609T>G	ENST00000389658.3	-	28	4095		c.e28-2			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 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)	TCTGAGATTCTGTGCAGCCAT	0.413000													20	173					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824614	96824614	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr10:96824614G>A	ENST00000371270.3	-	4	679	c.585C>T	c.(583-585)ctC>ctT	p.L195L	CYP2C8_ENST00000539050.1_Silent_p.L109L|CYP2C8_ENST00000535898.1_Silent_p.L93L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	195					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)	TCATCAGGGTGAGAAAATTCT	0.413000													18	81					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80626732	80626732	+	Silent	SNP	C	C	T	rs140954672		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr5:80626732C>T	ENST00000307624.3	-	14	1447	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	473	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCAAAATGACCGACTTCACTG	0.398000													16	17					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	27064754	27064754	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr14:27064754C>T	ENST00000539517.2	-	2	459	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	NOVA1_ENST00000574031.1_Missense_Mutation_p.G48S|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000344429.5_Missense_Mutation_p.G48S|NOVA1_ENST00000465357.2_Missense_Mutation_p.G48S|NOVA1_ENST00000547619.1_Missense_Mutation_p.G48S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	48					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAATACTGGCCGTCTTCTGAA	0.398000													7	36					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33247064	33247064	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:33247064C>G	ENST00000327671.5	-	4	1260	c.629G>C	c.(628-630)aGa>aCa	p.R210T	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.R182T|FUT10_ENST00000335589.3_Missense_Mutation_p.R148T|FUT10_ENST00000518672.1_Missense_Mutation_p.R182T	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	210					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|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)		CGGAGCAAGTCTTTTTCTAAG	0.473000													30	63					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687723	61687723	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr16:61687723T>C	ENST00000577390.1	-	12	3143	c.2189A>G	c.(2188-2190)cAt>cGt	p.H730R	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	730					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)		ATCTGCCTCATGCAGCCTTAC	0.483000													6	78					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134591197	134591197	+	Missense_Mutation	SNP	C	C	T	rs150382081	byFrequency	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr10:134591197C>T	ENST00000368594.3	+	13	1277	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	INPP5A_ENST00000368593.3_Missense_Mutation_p.R334C	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	334					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			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)		TGAGGACGCCCGCCAGGGTGA	0.662000													16	32					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14574940	14574940	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:14574940A>G	ENST00000242783.6	+	12	1871	c.1706A>G	c.(1705-1707)gAt>gGt	p.D569G	PKN1_ENST00000342216.4_Missense_Mutation_p.D575G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	569					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho 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|Rac GTPase 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						AGCTCGCGGGATCCTCCTTCC	0.632000													3	32					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887577	97887577	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr3:97887577T>C	ENST00000356526.2	+	1	34	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	12					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						GCTGACAGAGTTTGTTCTCAC	0.383000													6	87					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	67					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98865599	98865599	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr13:98865599C>A	ENST00000376586.2	+	2	439	c.103C>A	c.(103-105)Cct>Act	p.P35T	FARP1_ENST00000595437.1_Missense_Mutation_p.P35T|FARP1_ENST00000319562.6_Missense_Mutation_p.P35T|FARP1_ENST00000376581.5_Missense_Mutation_p.P35T			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	35					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			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)			GCCCCCAACACCTTCAGGAAA	0.547000													35	197					4.32679e-17	4.649e-17	1	1	0
GABRD	2563	broad.mit.edu	37	1	1957140	1957140	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:1957140C>T	ENST00000378585.4	+	4	516	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	145						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAAGCTCATCCGGCTGCAGCC	0.682000													10	31					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3121081	3121081	+	Silent	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr19:3121081C>T	ENST00000078429.4	+	7	1226	c.984C>T	c.(982-984)ttC>ttT	p.F328F	GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	328					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ACTCACACTTCACGTGTGCCA	0.612000			Mis		uveal melanoma								6	16					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99040717	99040717	+	Silent	SNP	C	C	G			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr13:99040717C>G	ENST00000376586.2	+	9	1176	c.840C>G	c.(838-840)ctC>ctG	p.L280L	FARP1_ENST00000595437.1_Silent_p.L280L|FARP1_ENST00000319562.6_Silent_p.L280L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	280	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			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)			TCATCAAGCTCCGGCCAGATG	0.557000													21	46					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													3	42					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49039248	49039248	+	Splice_Site	SNP	G	G	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr13:49039248G>A	ENST00000267163.4	+	22	2463		c.e22+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		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)	TTCCACCAGGGTAGGTCAAAA	0.338000		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	11					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				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	p.G3519G(3)		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)				cgccgccgccaccgccgccgc	0.716000													3	53					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744738	70744738	+	Silent	SNP	G	G	A	rs113487864	byFrequency	TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr8:70744738G>A	ENST00000260126.4	-	2	877	c.171C>T	c.(169-171)gcC>gcT	p.A57A	SLCO5A1_ENST00000524945.1_Silent_p.A57A|SLCO5A1_ENST00000530307.1_Silent_p.A57A|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGGCCGGGTTGGCGTCTCCAC	0.647000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	27					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151119229	151119229	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr4:151119229C>T	ENST00000296550.7	+	4	1689	c.935C>T	c.(934-936)tCt>tTt	p.S312F	DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000302176.8_Missense_Mutation_p.S312F|DCLK2_ENST00000506325.1_Missense_Mutation_p.S312F	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	312	Ser-rich.				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)					CCTGGGCCCTCTCGACGCAGC	0.403000													14	27					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21956972	21956972	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr14:21956972G>T	ENST00000405508.1	+	5	818	c.542G>T	c.(541-543)aGt>aTt	p.S181I	TOX4_ENST00000262709.3_Missense_Mutation_p.S181I|TOX4_ENST00000448790.2_Missense_Mutation_p.S158I			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	181						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCACCTACTAGTTCACTTCAC	0.507000													10	61					3.86212e-05	3.94014e-05	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166606310	166606310	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr2:166606310C>A	ENST00000392701.3	-	10	2496	c.1721G>T	c.(1720-1722)tGt>tTt	p.C574F	GALNT3_ENST00000409882.1_Missense_Mutation_p.C312F	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	574	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTGTAGGTACATGCCTTCAG	0.408000													25	74					2.12542e-12	2.25965e-12	1	1	0
EPHA10	284656	broad.mit.edu	37	1	38219977	38219977	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:38219977delT	ENST00000373048.4	-	4	915	c.916delA	c.(916-918)agcfs	p.S306fs	EPHA10_ENST00000330210.7_Intron|EPHA10_ENST00000446149.2_Intron|EPHA10_ENST00000427468.2_Frame_Shift_Del_p.S306fs	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	306						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)				AGGGCCCGGCTGTGCTCTGGG	0.687													2	4	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		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)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	13	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													2	4	---	---	---	---					
PICALM	8301	broad.mit.edu	37	11	85701319	85701320	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr11:85701319_85701320insT	ENST00000526033.1	-	13	1676_1677	c.1360_1361insA	c.(1360-1362)aggfs	p.R454fs	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000356360.5_Frame_Shift_Ins_p.R461fs|PICALM_ENST00000393346.3_Frame_Shift_Ins_p.R461fs|PICALM_ENST00000528398.1_Intron	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	461					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGTAGGTGTCCTAGTAGTAAAA	0.337			T	"""MLLT10, MLL"""	"""TALL, AML, """								14	46	---	---	---	---					
CCDC144CP	348254	broad.mit.edu	37	17	20225136	20225136	+	RNA	DEL	A	A	-	rs112185038		TCGA-ZF-AA5H-01A-11D-A391-08	TCGA-ZF-AA5H-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50e6d35f-1043-4ae5-841c-14af4d0f6ff7	f1524ba0-7c74-4551-b72c-fa3dc2801524	g.chr17:20225136delA	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							TTACTATTGCAAAAGTGTTGG	0.453													4	3	---	---	---	---