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
PITRM1	10531	broad.mit.edu	37	10	3205948	3205948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205948G>A	ENST00000380989.2	-	7	798	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.H254Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.H222Y	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	222					proteolysis		metalloendopeptidase activity|zinc ion binding	p.H254Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGAGTGGCATGAAACTGCTTA	0.458000													15	72					0	0	0.004007	0	0
RINL	126432	broad.mit.edu	37	19	39361468	39361468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361468C>A	ENST00000340740.3	-	8	811	c.424G>T	c.(424-426)Gag>Tag	p.E142*	RINL_ENST00000598904.1_Nonsense_Mutation_p.E142*|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000591812.1_Nonsense_Mutation_p.E256*|RINL_ENST00000602238.1_5'UTR	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	142							GTPase activator activity	p.E142*(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AGCACGTCCTCAGGGCCTTCC	0.622000													53	61					1.17673e-23	1.2587e-23	0.003610	1	0
OR8D1	283159	broad.mit.edu	37	11	124179832	124179832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124179832G>C	ENST00000357821.2	-	1	901	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F277L(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCGTGGTGTAGAACACAGAGG	0.453000													22	30					0	0	0.002299	0	0
DNAH3	55567	broad.mit.edu	37	16	21086798	21086798	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21086798C>T	ENST00000261383.3	-	21	3053	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	DNAH3_ENST00000415178.1_Silent_p.V1018V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1018	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V1018V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTGAACGTCACGTTAACCC	0.453000													12	58					0	0	0.001855	0	0
DHX34	9704	broad.mit.edu	37	19	47856690	47856690	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47856690C>G	ENST00000328771.4	+	2	752	c.403C>G	c.(403-405)Cga>Gga	p.R135G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	135						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.R135G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGAGTTCCGCCGAGCCCTGTT	0.652000													10	119					0	0	0.010729	0	0
ZNF287	57336	broad.mit.edu	37	17	16466491	16466491	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:16466491C>G	ENST00000395824.1	-	5	1301	c.684G>C	c.(682-684)gtG>gtC	p.V228V	ZNF287_ENST00000395825.3_Silent_p.V228V			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	221	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V221V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCTTTTATCACCATCCATG	0.373000													11	51					0	0	0.002450	0	0
SKIL	6498	broad.mit.edu	37	3	170108952	170108952	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:170108952G>C	ENST00000458537.3	+	5	2509	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	SKIL_ENST00000413427.2_Missense_Mutation_p.Q554H|SKIL_ENST00000426052.2_Missense_Mutation_p.Q580H|SKIL_ENST00000259119.4_Missense_Mutation_p.Q600H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	600					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.Q600H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGTTGAACAGAAAGACTTAG	0.348000													7	52					0	0	0.001984	0	0
GRHPR	9380	broad.mit.edu	37	9	37429803	37429803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:37429803G>C	ENST00000607784.1	+	6	573	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	GRHPR_ENST00000318158.6_Missense_Mutation_p.E190Q			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	190					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	p.E190Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCCCAGGCCTGAGGAAGCAGC	0.537000													5	22					0	0	0.001984	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817918	1817918	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1817918G>C	ENST00000250894.4	+	28	3676	c.3519G>C	c.(3517-3519)gaG>gaC	p.E1173D	MAPK8IP3_ENST00000356010.5_Splice_Site_p.E1167D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1173					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.E1179D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTGACAGAGAGTGAGTGGC	0.657000													16	78					0	0	0.006122	0	0
NXF1	10482	broad.mit.edu	37	11	62569095	62569095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62569095C>G	ENST00000531709.2	-	7	761	c.648G>C	c.(646-648)atG>atC	p.M216I	NXF1_ENST00000532297.1_Missense_Mutation_p.M216I|NXF1_ENST00000531131.1_Missense_Mutation_p.M79I|NXF1_ENST00000294172.2_Missense_Mutation_p.M216I|NXF1_ENST00000439713.2_Missense_Mutation_p.M216I	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	216	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.M216I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCGTTTGCTCATGATCAGCT	0.493000													23	80					0	0	0.012319	0	0
HNF4A	3172	broad.mit.edu	37	20	43043252	43043252	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:43043252G>A	ENST00000316099.4	+	5	687	c.598G>A	c.(598-600)Gag>Aag	p.E200K	HNF4A_ENST00000609795.1_Missense_Mutation_p.E178K|HNF4A_ENST00000443598.2_Missense_Mutation_p.E200K|HNF4A_ENST00000316673.4_Missense_Mutation_p.E178K|HNF4A_ENST00000415691.2_Missense_Mutation_p.E200K|HNF4A_ENST00000457232.1_Missense_Mutation_p.E178K	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.E200K(2)|p.E178K(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTTCTCGTTGAGTGGGCCAA	0.622000													8	23					0	0	0.004482	0	0
MERTK	10461	broad.mit.edu	37	2	112740537	112740537	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740537G>C	ENST00000295408.4	+	8	1520	c.1263G>C	c.(1261-1263)cgG>cgC	p.R421R	MERTK_ENST00000409780.1_Silent_p.R245R|MERTK_ENST00000421804.2_Silent_p.R421R			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	421	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R421R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGGCTACCGGATATCCCACG	0.453000													13	68					0	0	0.003330	0	0
NAGPA	51172	broad.mit.edu	37	16	5077281	5077281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:5077281C>G	ENST00000312251.3	-	8	1293	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	425					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R425T(1)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ATAGGTACCTCTGGAGACGCT	0.607000													6	46					0	0	0.001168	0	0
LRCH3	84859	broad.mit.edu	37	3	197593030	197593030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:197593030C>G	ENST00000438796.2	+	17	1857	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	LRCH3_ENST00000425562.2_Missense_Mutation_p.Q605E|LRCH3_ENST00000334859.4_Missense_Mutation_p.Q605E|LRCH3_ENST00000536618.1_Missense_Mutation_p.Q200E|LRCH3_ENST00000441090.2_Missense_Mutation_p.Q451E|LRCH3_ENST00000414675.2_Missense_Mutation_p.Q553E			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	605						extracellular region		p.Q605E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CCAGAGAAATCAGCCTCAGCG	0.433000													11	83					0	0	0.002450	0	0
COPA	1314	broad.mit.edu	37	1	160282929	160282929	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:160282929G>T	ENST00000241704.7	-	10	1100	c.871C>A	c.(871-873)Cat>Aat	p.H291N	COPA_ENST00000368069.3_Missense_Mutation_p.H291N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	291					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.H291N(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACGATCATGGTCTCTGCGG	0.403000													11	53					6.40141e-05	6.60205e-05	0.010729	1	0
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:21307591G>A	ENST00000602326.1	-	7	764	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	EIF4G3_ENST00000356916.3_Silent_p.L65L|EIF4G3_ENST00000374937.3_Silent_p.L61L|EIF4G3_ENST00000264211.8_Silent_p.L54L|EIF4G3_ENST00000374927.4_Silent_p.L54L|EIF4G3_ENST00000374935.3_Silent_p.L54L|EIF4G3_ENST00000400422.1_Silent_p.L54L	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517000													13	45					0	0	0.001855	0	0
MET	4233	broad.mit.edu	37	7	116436028	116436028	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116436028C>T	ENST00000397752.3	+	21	4223	c.4023C>T	c.(4021-4023)ttC>ttT	p.F1341F	MET_ENST00000318493.6_Silent_p.F1359F|MET_ENST00000539704.1_Silent_p.F211F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1341	Interaction with MUC20.|Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.F1359F(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)			CAGCGATCTTCTCTACTTTCA	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				18	75					0	0	0.004990	0	0
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Missense_Mutation	SNP	C	C	G	rs145206628		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:99707583C>G	ENST00000344095.4	-	12	1797	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.Q424H|TAF6_ENST00000452041.1_Missense_Mutation_p.Q424H|TAF6_ENST00000437822.2_Missense_Mutation_p.Q461H|TAF6_ENST00000472509.1_Missense_Mutation_p.Q481H|TAF6_ENST00000418432.2_Missense_Mutation_p.Q348H	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	424					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q424H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572000													10	72					0	0	0.008291	0	0
KIF21A	55605	broad.mit.edu	37	12	39726896	39726896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:39726896C>T	ENST00000395670.3	-	19	2920	c.2501G>A	c.(2500-2502)cGt>cAt	p.R834H	KIF21A_ENST00000361961.3_Missense_Mutation_p.R821H|KIF21A_ENST00000361418.5_Missense_Mutation_p.R834H|KIF21A_ENST00000544797.2_Missense_Mutation_p.R821H|KIF21A_ENST00000541463.2_Missense_Mutation_p.R798H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R821H(1)		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)				TACTTGCCGACGAAGAGCCGT	0.443000													6	96					0	0	0.001168	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820954	10820954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820954G>A	ENST00000526148.1	-	20	2852	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S743F|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S781F|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S781F	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	781	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S781F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTTCACTAGAAATGTACTG	0.423000													12	32					0	0	0.001368	0	0
C1orf51	148523	broad.mit.edu	37	1	150259343	150259343	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150259343G>A	ENST00000290363.5	+	5	1584	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	C1orf51_ENST00000369094.1_Missense_Mutation_p.D291N|C1orf51_ENST00000369095.1_Missense_Mutation_p.D379N	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	379								p.D379N(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGCTGCTGATGCTCATCT	0.458000													20	74					0	0	0.002299	0	0
CNNM3	26505	broad.mit.edu	37	2	97483169	97483169	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97483169C>G	ENST00000305510.3	+	1	1183	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNNM3_ENST00000377060.3_Missense_Mutation_p.F385L	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	385					ion transport	integral to membrane|plasma membrane	protein binding	p.F385L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCACTCGTTTCTACAACCATC	0.592000													11	71					0	0	0.008291	0	0
ATR	545	broad.mit.edu	37	3	142188970	142188970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:142188970G>C	ENST00000350721.4	-	37	6398	c.6277C>G	c.(6277-6279)Cta>Gta	p.L2093V	ATR_ENST00000383101.3_Missense_Mutation_p.L2029V|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2093	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L2093V(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGCCATAGAGTTAACATT	0.318000								Other conserved DNA damage response genes					4	22					0	0	0.009096	0	0
PLXNC1	10154	broad.mit.edu	37	12	94691157	94691157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:94691157C>G	ENST00000258526.4	+	26	4281	c.4032C>G	c.(4030-4032)ttC>ttG	p.F1344L	PLXNC1_ENST00000545312.1_Missense_Mutation_p.F83L|PLXNC1_ENST00000547057.1_Missense_Mutation_p.F391L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1344					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.F1344L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCACAAGTTCAAAGTAAAAG	0.448000													5	27					0	0	0.000602	0	0
SYMPK	8189	broad.mit.edu	37	19	46330779	46330779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:46330779C>T	ENST00000245934.7	-	16	2414	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	724					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E724K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGTCCTTCTCATGGGAGCTG	0.597000													13	32					0	0	0.001855	0	0
CRNKL1	51340	broad.mit.edu	37	20	20031155	20031155	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:20031155C>A	ENST00000377340.2	-	3	677	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	CRNKL1_ENST00000536226.1_Missense_Mutation_p.D55Y|CRNKL1_ENST00000377327.4_Missense_Mutation_p.D204Y	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	216					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.D216Y(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTTCTTCATCTGTGATCTTC	0.408000													17	42					2.23348e-06	2.33133e-06	0.004007	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16812671	16812671	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:16812671G>A	ENST00000355661.3	-	20	2831	c.2821C>T	c.(2821-2823)Ctg>Ttg	p.L941L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L941L|PLEKHA7_ENST00000448080.2_Silent_p.L942L|PLEKHA7_ENST00000332954.4_5'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	941	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.L941L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTCTTGGCAGAGGCGGCACA	0.637000													7	29					0	0	0.001984	0	0
NUP214	8021	broad.mit.edu	37	9	134003045	134003045	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:134003045G>T	ENST00000359428.5	+	2	324	c.180G>T	c.(178-180)caG>caT	p.Q60H	NUP214_ENST00000411637.2_Missense_Mutation_p.Q60H|NUP214_ENST00000451030.1_Missense_Mutation_p.Q60H			P35658	NU214_HUMAN	nucleoporin 214kDa	60					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.Q60H(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGGCTTGCAGATTTTTCCTA	0.448000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								19	83					1.01871e-10	1.08297e-10	0.008871	1	0
NLRP10	338322	broad.mit.edu	37	11	7982182	7982182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:7982182G>A	ENST00000328600.2	-	2	1138	c.977C>T	c.(976-978)tCc>tTc	p.S326F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	326	NACHT.						ATP binding	p.S326F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGTGAAATAGGAGCTGAAGTA	0.517000													22	55					0	0	0.002780	0	0
ZRANB1	54764	broad.mit.edu	37	10	126631257	126631257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:126631257G>C	ENST00000359653.4	+	1	566	c.195G>C	c.(193-195)ttG>ttC	p.L65F	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	65					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.L65F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTAGTCCTTTGATATGTCCAG	0.413000													35	69					0	0	0.003271	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514906	67514906	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514906G>C	ENST00000290949.3	-	1	234	c.84C>G	c.(82-84)ctC>ctG	p.L28L	ATP6V0D1_ENST00000540149.1_Silent_p.L28L	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	28					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		p.L28L(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCCTGGCTGAGCACCCCGG	0.652000													15	42					0	0	0.007413	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028360	21028360	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:21028360C>G	ENST00000381545.3	+	9	1138	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.Q307E|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.Q307E|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.Q307E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	307					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.Q307E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGATAGAAATCAAACAGCTAA	0.303000													15	58					0	0	0.004007	0	0
MMP8	4317	broad.mit.edu	37	11	102584518	102584518	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:102584518C>G	ENST00000236826.3	-	9	1359	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	421	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	p.E421Q(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACTTTACTCTCTATTCCTGGA	0.348000													14	71					0	0	0.003163	0	0
SMOC2	64094	broad.mit.edu	37	6	169051384	169051384	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:169051384G>A	ENST00000354536.5	+	10	1184	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SMOC2_ENST00000356284.2_Missense_Mutation_p.E311K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	311					signal transduction	basement membrane	calcium ion binding	p.E322K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAAAAAGCATGAGTTTCTGAC	0.512000													7	11					0	0	0.001984	0	0
P2RY2	5029	broad.mit.edu	37	11	72945972	72945972	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945972C>G	ENST00000311131.2	+	3	1235	c.768C>G	c.(766-768)ctC>ctG	p.L256L	P2RY2_ENST00000393596.2_Silent_p.L256L|P2RY2_ENST00000393597.2_Silent_p.L256L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	256					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L256L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TCTTCGCCCTCTGCTTCCTGC	0.647000													3	44					0	0	0.004672	0	0
FAM46A	55603	broad.mit.edu	37	6	82459984	82459984	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:82459984C>T	ENST00000369754.3	-	3	1126	c.814G>A	c.(814-816)Gag>Aag	p.E272K	FAM46A_ENST00000369756.3_Missense_Mutation_p.E334K|FAM46A_ENST00000320172.6_Missense_Mutation_p.E253K			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	253								p.E253K(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGAAATGTCTCAGTCATTGGG	0.438000													16	70					0	0	0.008871	0	0
APPL2	55198	broad.mit.edu	37	12	105600843	105600843	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105600843C>T	ENST00000258530.3	-	8	842	c.617G>A	c.(616-618)gGa>gAa	p.G206E	APPL2_ENST00000551662.1_Missense_Mutation_p.G212E|APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.G163E	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	206	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.G206E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCTACCTGTCCATGGGCAAA	0.557000													14	49					0	0	0.002450	0	0
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57886441C>T	ENST00000302610.1	-	1	475	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542000													7	53					0	0	0.001984	0	0
ABCC3	8714	broad.mit.edu	37	17	48745049	48745049	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:48745049C>G	ENST00000285238.8	+	12	1646	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L	ABCC3_ENST00000427699.1_Silent_p.L522L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	522	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.L522L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGGGTGAGCTCCAGCTGCTGC	0.632000													5	46					0	0	0.001168	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12823090	12823090	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:12823090C>G	ENST00000379672.5	+	6	706	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.Q136E|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.Q136E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	136	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q136E(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCCAAATATTCAAAAGCAGAG	0.408000													7	14					0	0	0.001984	0	0
TSPO2	222642	broad.mit.edu	37	6	41011326	41011326	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41011326G>C	ENST00000373161.1	+	3	449	c.204G>C	c.(202-204)ctG>ctC	p.L68L	TSPO2_ENST00000373158.2_Intron|TSPO2_ENST00000470917.1_Silent_p.L68L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	68					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	p.L68L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGAAGGACCTGGGAGGGGGCT	0.582000													11	86					0	0	0.001368	0	0
OPRD1	4985	broad.mit.edu	37	1	29185686	29185686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:29185686G>T	ENST00000234961.2	+	2	690	c.448G>T	c.(448-450)Gtc>Ttc	p.V150F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	150					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.V150F(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CTACATCGCTGTCTGCCACCC	0.577000													10	40					4.68919e-08	4.93937e-08	0.008291	1	0
RPS15	6209	broad.mit.edu	37	19	1440120	1440120	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:1440120G>A	ENST00000591804.2	+	4	419	c.93G>A	c.(91-93)aaG>aaA	p.K31K	RPS15_ENST00000586096.2_Silent_p.K64K|RPS15_ENST00000585665.1_Silent_p.K31K|RPS15_ENST00000591032.1_Silent_p.K31K|RPS15_ENST00000589656.2_Silent_p.K64K|RPS15_ENST00000593052.1_Silent_p.K71K|RPS15_ENST00000586686.2_Silent_p.K64K|RPS15_ENST00000233609.4_Silent_p.K37K			P62841	RS15_HUMAN	ribosomal protein S15	64					endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	p.K64K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAAGAAGGAGGCGC	0.662000													3	12					0	0	0.004672	0	0
IPO7	10527	broad.mit.edu	37	11	9450660	9450660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9450660G>A	ENST00000379719.3	+	14	1650	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	503					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.R503K(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTAACAAGAAGATGTCTGATT	0.373000													19	63					0	0	0.006122	0	0
MYO9B	4650	broad.mit.edu	37	19	17311468	17311468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:17311468C>T	ENST00000595618.1	+	26	4545	c.4393C>T	c.(4393-4395)Cgc>Tgc	p.R1465C	MYO9B_ENST00000594824.1_Missense_Mutation_p.R1465C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1465C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1465	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.R1465C(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACAGCAGCATCGCCACGCTGC	0.602000													6	15					0	0	0.001168	0	0
RAB7L1	8934	broad.mit.edu	37	1	205741642	205741642	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:205741642G>C	ENST00000367139.3	-	3	481	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.Q60E|RAB7L1_ENST00000414729.1_Missense_Mutation_p.Q60E|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	60					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q60E(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCACAGCTGAAGCCGCACT	0.383000													92	102					0	0	0.003610	0	0
BAX	581	broad.mit.edu	37	19	49464317	49464317	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49464317C>T	ENST00000293288.8	+	5	620	c.620C>T	c.(619-621)tCa>tTa	p.S207L	BAX_ENST00000345358.7_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000415969.2_Intron|BAX_ENST00000539787.1_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S207L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TTCAGATCATCAGATGTGGTC	0.592000													38	49					0	0	0.010771	0	0
RFPL1	5988	broad.mit.edu	37	22	29835056	29835056	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29835056C>T	ENST00000354373.2	+	1	485	c.276C>T	c.(274-276)ccC>ccT	p.P92P	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	92							zinc ion binding	p.P92P(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AAATCAGGCCCAGTTGGCAGC	0.512000													13	61					0	0	0.001855	0	0
RECQL5	9400	broad.mit.edu	37	17	73624402	73624402	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624402C>G	ENST00000317905.5	-	18	2860	c.2701G>C	c.(2701-2703)Gac>Cac	p.D901H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.D874H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	901					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.D874H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGAAGGGGTCTTGAGCCGTG	0.602000								Other identified genes with known or suspected DNA repair function					16	103					0	0	0.004990	0	0
VPS8	23355	broad.mit.edu	37	3	184570306	184570306	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:184570306C>G	ENST00000287546.4	+	10	943	c.772C>G	c.(772-774)Ctt>Gtt	p.L258V	VPS8_ENST00000446204.2_Missense_Mutation_p.L256V|VPS8_ENST00000437079.3_Missense_Mutation_p.L258V|VPS8_ENST00000436792.2_Missense_Mutation_p.L256V	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	258							zinc ion binding	p.L258V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATCCAACTCTTGCAATTTG	0.313000													4	35					0	0	0.009096	0	0
SFTPD	6441	broad.mit.edu	37	10	81701777	81701777	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:81701777G>A	ENST00000372292.3	-	5	523	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	161	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	p.L161L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TAGGGCCTGCGAGGCCTCTTG	0.622000													20	79					0	0	0.008871	0	0
OR51D1	390038	broad.mit.edu	37	11	4661760	4661760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:4661760C>T	ENST00000357605.2	+	1	816	c.740C>T	c.(739-741)gCa>gTa	p.A247V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGGGCAGCACTCAAGGCT	0.537000													9	73					0	0	0.004482	0	0
PCBP3	54039	broad.mit.edu	37	21	47359997	47359997	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:47359997G>A	ENST00000400314.1	+	15	1301	c.963G>A	c.(961-963)caG>caA	p.Q321Q	PCBP3_ENST00000400310.1_Silent_p.Q301Q|PCBP3_ENST00000449640.1_Silent_p.Q321Q|PCBP3_ENST00000400304.1_Silent_p.Q311Q|PCBP3_ENST00000400309.1_Silent_p.Q320Q|PCBP3_ENST00000400308.1_Silent_p.Q295Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	321	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.Q289Q(1)|p.Q321Q(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAATTCGACAGATGTCTGGAG	0.532000													10	47					0	0	0.008291	0	0
THOC5	8563	broad.mit.edu	37	22	29921847	29921847	+	Silent	SNP	C	C	T	rs150202892		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29921847C>T	ENST00000490103.1	-	12	1277	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	THOC5_ENST00000397873.2_Silent_p.L385L|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.L385L|THOC5_ENST00000397872.1_Silent_p.L385L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	385					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	p.L385L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGGGTGATCAGCTCCATGG	0.547000													11	52					0	0	0.001855	0	0
TCF25	22980	broad.mit.edu	37	16	89940210	89940210	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89940210C>T	ENST00000263346.8	+	1	191	c.135C>T	c.(133-135)gtC>gtT	p.V45V		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	45					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.V45V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCTTGGTGTCCGGCGTCCCG	0.701000													4	12					0	0	0.009096	0	0
FSIP2	401024	broad.mit.edu	37	2	186670996	186670996	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:186670996G>A	ENST00000343098.5	+	17	17230	c.17230G>A	c.(17230-17232)Gag>Aag	p.E5744K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E5655K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.E353K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCAAGCAATGAGGGGAGAAG	0.373000													3	12					0	0	0.004672	0	0
DOT1L	84444	broad.mit.edu	37	19	2216484	2216484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216484G>A	ENST00000398665.3	+	20	2164	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	710						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E710K(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGAGCCCGGAGCTCTCCAT	0.672000													12	47					0	0	0.001368	0	0
BACH2	60468	broad.mit.edu	37	6	90718326	90718326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:90718326C>T	ENST00000257749.4	-	6	945	c.238G>A	c.(238-240)Gag>Aag	p.E80K	BACH2_ENST00000537989.1_Missense_Mutation_p.E80K|BACH2_ENST00000343122.3_Missense_Mutation_p.E80K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	80	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding	p.E80K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGTACCTCCTCAGGCAAGCTG	0.473000													6	52					0	0	0.001984	0	0
ATAD2B	54454	broad.mit.edu	37	2	24011422	24011422	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:24011422G>C	ENST00000238789.5	-	20	3079	c.2736C>G	c.(2734-2736)ctC>ctG	p.L912L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	912							ATP binding|nucleoside-triphosphatase activity	p.L912L(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCTGATTGAGAATCAATT	0.358000													4	44					0	0	0.009096	0	0
MYC	4609	broad.mit.edu	37	8	128750661	128750661	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:128750661G>A	ENST00000377970.2	+	2	708	c.198G>A	c.(196-198)aaG>aaA	p.K66K	MYC_ENST00000524013.1_Silent_p.K65K|MYC_ENST00000259523.6_Silent_p.K51K	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	51					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K51K(1)|p.K66K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ATATCTGGAAGAAATTCGAGC	0.657000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	36					0	0	0.009096	0	0
ANPEP	290	broad.mit.edu	37	15	90349355	90349355	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:90349355C>G	ENST00000300060.6	-	2	773	c.460G>C	c.(460-462)Gag>Cag	p.E154Q		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	154	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.E154Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCACCAGCTCAGTCTTGTCA	0.617000													11	47					0	0	0.001855	0	0
CD1A	909	broad.mit.edu	37	1	158226807	158226807	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:158226807G>A	ENST00000289429.5	+	4	1369	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	279	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.R279Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGTCCTGTCGGGTGAAGCAC	0.612000													13	50					0	0	0.001368	0	0
COL4A4	1286	broad.mit.edu	37	2	227924258	227924258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:227924258G>A	ENST00000396625.3	-	28	2453	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	COL4A4_ENST00000329662.7_Missense_Mutation_p.S749L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	749	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.S749L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTCCTGGTGAGCCGGGAGG	0.552000													13	61					0	0	0.001368	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33632447	33632447	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33632447G>A	ENST00000252015.2	-	7	815	c.726C>T	c.(724-726)ctC>ctT	p.L242L	TRPC4AP_ENST00000451813.2_Silent_p.L242L|TRPC4AP_ENST00000432634.2_Silent_p.L203L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	242	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	p.L242L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAAATTAGCGAGCTGCTGCT	0.438000													25	129					0	0	0.003954	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95155124	95155124	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:95155124G>C	ENST00000354268.4	+	4	461	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E130Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	130					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.E130Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATCTGAAGATGAAGAGTCCCA	0.338000													6	37					0	0	0.001168	0	0
DOT1L	84444	broad.mit.edu	37	19	2213856	2213856	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213856G>A	ENST00000398665.3	+	18	1704	c.1668G>A	c.(1666-1668)gtG>gtA	p.V556V	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	556						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.V556V(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGGTGTGAAGGCGCTGA	0.642000													8	66					0	0	0.003080	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107035677	107035677	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:107035677G>C	ENST00000369063.3	-	7	1332	c.867C>G	c.(865-867)ctC>ctG	p.L289L	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	289						mitochondrion	oxidoreductase activity|zinc ion binding	p.L289L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACCATTTCTTGAGAAAATCTG	0.458000													7	194					0	0	0.001984	0	0
AKAP8L	26993	broad.mit.edu	37	19	15510131	15510131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15510131C>T	ENST00000397410.5	-	9	1269	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R319Q	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	p.R380Q(4)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CATGCGGTCTCGCTGCCGCTT	0.617000													9	42					0	0	0.001368	0	0
PTPRJ	5795	broad.mit.edu	37	11	48134415	48134415	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:48134415C>G	ENST00000418331.2	+	3	584	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	PTPRJ_ENST00000440289.2_Missense_Mutation_p.Q78E|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	78					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.Q78E(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAACACCTCAGGTGGAAAC	0.468000													19	44					0	0	0.008871	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283642	37283642	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37283642G>C	ENST00000233099.5	-	16	2435	c.2340C>G	c.(2338-2340)gtC>gtG	p.V780V	HEATR5B_ENST00000354531.2_Silent_p.V780V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	780							binding	p.V780V(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGCATCAATGACTGAGACTC	0.433000													23	83					0	0	0.003330	0	0
DPYSL4	10570	broad.mit.edu	37	10	134013904	134013904	+	Missense_Mutation	SNP	G	G	C	rs145582956		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:134013904G>C	ENST00000338492.4	+	9	1020	c.856G>C	c.(856-858)Gac>Cac	p.D286H	DPYSL4_ENST00000368629.1_Missense_Mutation_p.D186H|DPYSL4_ENST00000368627.1_Missense_Mutation_p.D186H	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	286					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.D286H(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCTGGGCACCGACGGTTCACA	0.677000													10	51					0	0	0.001855	0	0
FAM73A	374986	broad.mit.edu	37	1	78249010	78249010	+	Missense_Mutation	SNP	C	C	G	rs146841294		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:78249010C>G	ENST00000370791.3	+	2	201	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	57						integral to membrane		p.L57V(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGATCTTCCTCTGACTTGGTA	0.358000													21	325					0	0	0.002299	0	0
UBAP2L	9898	broad.mit.edu	37	1	154223614	154223614	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:154223614G>C	ENST00000428931.1	+	13	1478	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	UBAP2L_ENST00000361546.2_Missense_Mutation_p.E437D|UBAP2L_ENST00000271877.7_Missense_Mutation_p.E448D|UBAP2L_ENST00000343815.6_Missense_Mutation_p.E437D	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	437					binding of sperm to zona pellucida		protein binding	p.E437D(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTTCAGGAGAAGTCACCTG	0.532000													15	128					0	0	0.004007	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874949	88874949	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:88874949G>A	ENST00000303236.3	-	13	2353	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	EIF2AK3_ENST00000419748.1_Silent_p.L533L|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	684	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.L684L(1)		ovary(3)	3						TAGGAGAGCTGAGTGGCCAGT	0.408000													6	54					0	0	0.001168	0	0
DDX19A	55308	broad.mit.edu	37	16	70400696	70400696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:70400696G>A	ENST00000302243.7	+	9	1115	c.952G>A	c.(952-954)Gag>Aag	p.E318K	DDX19A_ENST00000417604.2_Missense_Mutation_p.E287K|DDX19A_ENST00000443119.2_Missense_Mutation_p.E228K	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A									p.E318K(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CAGCAGAGACGAGAAGTTCCA	0.542000													16	79					0	0	0.004007	0	0
ALPK1	80216	broad.mit.edu	37	4	113362208	113362208	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:113362208G>A	ENST00000458497.1	+	15	3953	c.3674G>A	c.(3673-3675)tGt>tAt	p.C1225Y	ALPK1_ENST00000177648.9_Missense_Mutation_p.C1225Y|ALPK1_ENST00000504176.2_Missense_Mutation_p.C1147Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1225	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity	p.C1225Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATGTGGAATGTAATGAAATC	0.383000													16	132					0	0	0.004990	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4048050	4048050	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:4048050G>A	ENST00000322357.4	-	3	1733	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	ZBTB7A_ENST00000601588.1_Silent_p.L485L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	485					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	p.L485L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCTTTCTTGAGGTGTCTGT	0.731000													6	23					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179528787	179528787	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179528787C>A	ENST00000589042.1	-	169	36543	c.36319G>T	c.(36319-36321)Gtg>Ttg	p.V12107L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10256	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACCGACACTTTCTTTTCA	0.383000													9	48					1.08611e-07	1.14231e-07	0.010729	1	0
CCDC30	728621	broad.mit.edu	37	1	43011099	43011099	+	Missense_Mutation	SNP	G	G	C	rs12746482		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:43011099G>C	ENST00000428554.2	+	11	1417	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E92Q|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.E92Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	92								p.E92Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCTTTCACAAGAATTTGCACA	0.289000													5	412					0	0	0.000602	0	0
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53057257G>C	ENST00000359798.4	+	5	1268	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383000													7	121					0	0	0.001984	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191489	185191489	+	Silent	SNP	C	C	T	rs148543279	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:185191489C>T	ENST00000265026.3	+	11	2704	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	MAP3K13_ENST00000446828.1_Silent_p.L583L|MAP3K13_ENST00000535426.1_Silent_p.L646L|MAP3K13_ENST00000424227.1_Silent_p.L790L|MAP3K13_ENST00000443863.1_Silent_p.L646L	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	790					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.L790L(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGTCATCCCTCGGCACCTCTC	0.512000													44	132					0	0	0.003610	0	0
ZNF341	84905	broad.mit.edu	37	20	32379155	32379155	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:32379155G>A	ENST00000375200.1	+	15	2762	c.2397G>A	c.(2395-2397)gcG>gcA	p.A799A	RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Silent_p.A792A	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A792A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCCGGACGCGGTGCTGTCCA	0.701000													6	54					0	0	0.004482	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235258	5235258	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5235258G>C	ENST00000274181.7	+	13	2120	c.1982G>C	c.(1981-1983)aGa>aCa	p.R661T	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	661	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R661T(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGACGATTCAGAGGGCGGCAC	0.483000													13	35					0	0	0.001855	0	0
HIF1AN	55662	broad.mit.edu	37	10	102304781	102304781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:102304781C>G	ENST00000299163.6	+	4	751	c.651C>G	c.(649-651)atC>atG	p.I217M		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	p.I217M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AACGATGCATCTTATTCCCTC	0.453000													3	91					0	0	0.000602	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74675245	74675245	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:74675245C>G	ENST00000380494.5	-	18	2478	c.2185G>C	c.(2185-2187)Gag>Cag	p.E729Q	COL4A3BP_ENST00000508692.1_Intron|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E575Q|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.E601Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	601					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	p.E601Q(1)|p.E729Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAGGATACTCTCGCTTTGCC	0.373000													13	20					0	0	0.002450	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744970	87744970	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:87744970C>T	ENST00000270583.5	-	9	973	c.915G>A	c.(913-915)ccG>ccA	p.P305P	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Silent_p.P248P|KLHDC4_ENST00000347925.5_Silent_p.P274P	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	305								p.P305P(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTGGTGATTCGGGGCCATGG	0.567000													12	62					0	0	0.010729	0	0
DHX8	1659	broad.mit.edu	37	17	41599484	41599484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:41599484C>G	ENST00000262415.3	+	22	3405	c.3333C>G	c.(3331-3333)ttC>ttG	p.F1111L	DHX8_ENST00000540306.1_Missense_Mutation_p.F1111L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.F1111L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGTGGGTTCTTCCGTAATG	0.517000													82	52					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9075858	9075858	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:9075858C>G	ENST00000397910.4	-	3	11791	c.11588G>C	c.(11587-11589)aGa>aCa	p.R3863T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3864	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R3863T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATGTAGCTCTTGCCTCTGT	0.453000													10	33					0	0	0.006214	0	0
SPICE1	152185	broad.mit.edu	37	3	113172624	113172624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113172624C>T	ENST00000295872.4	-	14	2090	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	611					cell division|mitosis	centriole|spindle	protein binding	p.E611K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCCAAATCTTCTCCCATGTGA	0.438000													34	93					0	0	0.002836	0	0
U2AF2	11338	broad.mit.edu	37	19	56180822	56180822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:56180822C>G	ENST00000450554.2	+	11	2004	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E	U2AF2_ENST00000308924.4_Missense_Mutation_p.Q353E|U2AF2_ENST00000590551.1_Missense_Mutation_p.Q185E|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	353					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.Q353E(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCATCAATCAGACGCCTGT	0.662000													19	23					0	0	0.007413	0	0
ZNF681	148213	broad.mit.edu	37	19	23927978	23927978	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23927978C>G	ENST00000402377.3	-	4	515	c.374G>C	c.(373-375)gGa>gCa	p.G125A	ZNF681_ENST00000395385.3_Missense_Mutation_p.G56A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G125A(1)|p.G56A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTATAACCTCCTTTTTGCAC	0.294000													7	24					0	0	0.001984	0	0
DDX24	57062	broad.mit.edu	37	14	94526925	94526925	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94526925C>T	ENST00000330836.5	-	5	1563	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	DDX24_ENST00000555054.1_Missense_Mutation_p.E435K|DDX24_ENST00000544005.1_Missense_Mutation_p.E228K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	478	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.E478K(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGGCCTTTCTCAACCATCCGG	0.493000													14	49					0	0	0.001855	0	0
PAAF1	80227	broad.mit.edu	37	11	73627688	73627688	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:73627688G>A	ENST00000544909.1	+	7	1178	c.921G>A	c.(919-921)ctG>ctA	p.L307L	PAAF1_ENST00000544552.1_Silent_p.L289L|PAAF1_ENST00000535604.1_Silent_p.L191L|PAAF1_ENST00000536003.1_Silent_p.L289L|PAAF1_ENST00000376384.5_Silent_p.L289L|PAAF1_ENST00000541951.1_Silent_p.L191L|PAAF1_ENST00000310571.3_Silent_p.L306L			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	306					interspecies interaction between organisms	proteasome complex	protein binding	p.L306L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TTTATCAGCTGGATGTGAGGA	0.423000													4	41					0	0	0.000602	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614842	184614842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:184614842G>A	ENST00000334690.6	+	21	2540	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E386K|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E780K	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	780								p.E780K(1)									TCAGTCCCATGAAAAGACCCA	0.393000													37	89					0	0	0.004878	0	0
GFM1	85476	broad.mit.edu	37	3	158383171	158383171	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158383171G>C	ENST00000486715.1	+	12	1783	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q	GFM1_ENST00000478576.1_Missense_Mutation_p.E476Q|GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000264263.5_Missense_Mutation_p.E495Q	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	476					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	p.E476Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTACAAGAGAAGATCCCAC	0.348000													8	36					0	0	0.006214	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107244	27107244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:27107244G>C	ENST00000354348.2	+	1	169	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	53					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.E53Q(1)		lung(1)	1						CCTCATCTATGAGGAGACCCG	0.632000			T	BCL6	NHL								7	65					0	0	0.001984	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849346	106849346	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:106849346G>A	ENST00000526355.2	-	3	954	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GUCY1A2_ENST00000282249.2_Splice_Site_p.L162L|GUCY1A2_ENST00000347596.2_Splice_Site_p.L162L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.L162L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTAATATACCGAGTATATTAG	0.368000													3	22					0	0	0.009096	0	0
RTN3	10313	broad.mit.edu	37	11	63487538	63487538	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:63487538G>A	ENST00000377819.5	+	3	1718	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E503K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E410K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	522					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		p.E503K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AATTCAGGCTGAAAAACCTGT	0.368000													3	32					0	0	0.009096	0	0
PDZRN3	23024	broad.mit.edu	37	3	73438983	73438983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:73438983C>T	ENST00000263666.4	-	7	1514	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	PDZRN3_ENST00000462146.2_Missense_Mutation_p.G124E|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G184E|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G189E|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G124E	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	467	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.G467E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATGCGGTCTCCTTCTCGGAT	0.468000													13	39					0	0	0.001855	0	0
NAA25	80018	broad.mit.edu	37	12	112477060	112477060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112477060C>A	ENST00000261745.4	-	22	2870	c.2622G>T	c.(2620-2622)aaG>aaT	p.K874N		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	874	Poly-Lys.					cytoplasm	protein binding	p.K874N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTTTTTCTTCTTTTTCTTTT	0.343000													13	47					1.5842e-08	1.67383e-08	0.001855	1	0
GOLGB1	2804	broad.mit.edu	37	3	121411306	121411306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121411306C>T	ENST00000393667.3	-	14	7015	c.6905G>A	c.(6904-6906)cGc>cAc	p.R2302H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2297H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2297					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.R2297H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTATAGGTGGCGTGTCTCTTC	0.433000													13	90					0	0	0.001855	0	0
EIF4G2	1982	broad.mit.edu	37	11	10820632	10820632	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820632G>C	ENST00000526148.1	-	21	3075	c.2565C>G	c.(2563-2565)ttC>ttG	p.F855L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.F817L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F855L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.F855L	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	855	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.F855L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTCATAGAAGTGCACAA	0.348000													20	57					0	0	0.008871	0	0
TMX2	51075	broad.mit.edu	37	11	57507579	57507579	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57507579G>C	ENST00000278422.4	+	8	765	c.753G>C	c.(751-753)gtG>gtC	p.V251V	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Silent_p.V213V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	251	Thioredoxin.				cell redox homeostasis	integral to membrane		p.V251V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						AGGAGAATGTGATCCGAGAAT	0.473000													7	107					0	0	0.004482	0	0
SYBU	55638	broad.mit.edu	37	8	110587905	110587905	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:110587905C>G	ENST00000399066.3	-	6	1940	c.1213G>C	c.(1213-1215)Gac>Cac	p.D405H	SYBU_ENST00000533065.1_Missense_Mutation_p.D289H|SYBU_ENST00000422135.1_Missense_Mutation_p.D408H|SYBU_ENST00000529690.1_Missense_Mutation_p.D278H|SYBU_ENST00000440310.1_Missense_Mutation_p.D408H|SYBU_ENST00000433638.1_Missense_Mutation_p.D408H|SYBU_ENST00000532779.1_Missense_Mutation_p.D340H|SYBU_ENST00000529175.1_Missense_Mutation_p.D202H|SYBU_ENST00000276646.9_Missense_Mutation_p.D408H|SYBU_ENST00000419099.1_Missense_Mutation_p.D407H|SYBU_ENST00000533171.1_Missense_Mutation_p.D408H|SYBU_ENST00000408889.3_Missense_Mutation_p.D289H|SYBU_ENST00000528647.1_Missense_Mutation_p.D407H|SYBU_ENST00000528331.1_Missense_Mutation_p.D289H|SYBU_ENST00000408908.2_Missense_Mutation_p.D408H|SYBU_ENST00000446070.2_Missense_Mutation_p.D407H|SYBU_ENST00000424158.2_Missense_Mutation_p.D413H|SYBU_ENST00000533895.1_Missense_Mutation_p.D407H	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	408	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.D405H(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCCATTGTGTCAAGAGGGGGG	0.537000													9	77					0	0	0.010729	0	0
BHLHE41	79365	broad.mit.edu	37	12	26277038	26277038	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:26277038C>T	ENST00000242728.4	-	3	548	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	67	Helix-loop-helix motif.				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GTAAATCTTTCAGCTGAGCAA	0.388000													12	38					0	0	0.001368	0	0
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:58558027C>G	ENST00000348616.4	+	5	743	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000244047.5_Missense_Mutation_p.S148C	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403000													27	156					0	0	0.006320	0	0
CLCA1	1179	broad.mit.edu	37	1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86961284G>A	ENST00000234701.3	+	13	2390	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	680					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.G680E(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463000													9	74					0	0	0.008291	0	0
LRP10	26020	broad.mit.edu	37	14	23346713	23346713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23346713G>A	ENST00000359591.4	+	7	2810	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	707					endocytosis	coated pit|integral to membrane		p.E707K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCTGAGGCAGAGGATGAGCC	0.627000													7	7					0	0	0.003080	0	0
ASH1L	55870	broad.mit.edu	37	1	155319163	155319163	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155319163C>T	ENST00000368346.3	-	19	8163	c.7524G>A	c.(7522-7524)gtG>gtA	p.V2508V	ASH1L_ENST00000392403.3_Silent_p.V2503V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2508	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.V2503V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAAAAGCTTCCACTGTCTTAT	0.383000													24	58					0	0	0.002299	0	0
SERPINA12	145264	broad.mit.edu	37	14	94956013	94956013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94956013C>G	ENST00000341228.2	-	5	1792	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E333Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	333					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E333Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCATGTTCCTCAAAGATTTTG	0.562000													12	24					0	0	0.001368	0	0
MAP1A	4130	broad.mit.edu	37	15	43817277	43817277	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:43817277G>C	ENST00000382031.1	+	5	4351	c.4320G>C	c.(4318-4320)gaG>gaC	p.E1440D	MAP1A_ENST00000300231.5_Missense_Mutation_p.E1202D|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1202D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1202						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.E1202D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTCAGAAGAGAGTCCCAGCA	0.537000													15	52					0	0	0.003163	0	0
CPB2	1361	broad.mit.edu	37	13	46656653	46656653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46656653G>A	ENST00000181383.4	-	4	323	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Q103*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	103					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.Q103*(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCTGCTGTTGAATAAGATCT	0.483000													23	63					0	0	0.003954	0	0
TTC26	79989	broad.mit.edu	37	7	138863036	138863036	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:138863036C>G	ENST00000464848.1	+	13	1226	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	TTC26_ENST00000495038.1_Silent_p.L251L|TTC26_ENST00000478836.2_Silent_p.L275L|TTC26_ENST00000343187.4_Silent_p.L351L|TTC26_ENST00000430935.1_Silent_p.L382L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	382							binding	p.L382L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGATTTACCTCAACTCATTTA	0.373000													10	55					0	0	0.006214	0	0
EXOC6B	23233	broad.mit.edu	37	2	72968519	72968519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:72968519C>T	ENST00000272427.6	-	2	323	c.193G>A	c.(193-195)Gag>Aag	p.E65K	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E65K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	65					protein transport|vesicle docking involved in exocytosis	exocyst		p.E65K(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CACATTTTCTCAATTTCTCGG	0.408000													12	114					0	0	0.003163	0	0
C11orf48	79081	broad.mit.edu	37	11	62437250	62437250	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62437250G>C	ENST00000431002.2	-	1	1987	c.254C>G	c.(253-255)cCg>cGg	p.P85R	C11orf48_ENST00000532208.1_Missense_Mutation_p.P59R|C11orf48_ENST00000354588.3_Missense_Mutation_p.P59R			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	85								p.P59R(1)		endometrium(1)|lung(5)|urinary_tract(1)	7						CACAATAGACGGCAGATGGGA	0.532000													6	111					0	0	0.001984	0	0
UNC45A	55898	broad.mit.edu	37	15	91496469	91496469	+	Missense_Mutation	SNP	C	C	T	rs8041417	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:91496469C>T	ENST00000394275.2	+	22	3296	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W	AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Missense_Mutation_p.R836W	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	836					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R836W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTGCTACAGCGGGCAGCTGC	0.622000													24	116					0	0	0.005443	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409297	59409297	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:59409297G>C	ENST00000301645.3	-	3	911	c.774C>G	c.(772-774)agC>agG	p.S258R		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	258					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.S258R(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACATGCGCAGGCTGATCAGTT	0.517000									Neonatal Giant Cell Hepatitis				12	177					0	0	0.001368	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703931	68703931	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68703931C>T	ENST00000255078.3	+	13	2094	c.1983C>T	c.(1981-1983)caC>caT	p.H661H		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	661					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	p.H661H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTCCAGCCACGCTGCCACCA	0.597000													18	72					0	0	0.008871	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532425	84532425	+	RNA	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:84532425G>A	ENST00000527857.1	+	0	2447					NR_026851.1																						GTCTAACTCTGAGAGAGACCT	0.468000													7	49					0	0	0.003080	0	0
CCND1	595	broad.mit.edu	37	11	69456203	69456203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:69456203C>T	ENST00000227507.2	+	1	349	c.122C>T	c.(121-123)tCg>tTg	p.S41L	CCND1_ENST00000536559.1_Missense_Mutation_p.S41L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	41	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.S41L(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCGCGCCCTCGGTGTCCTAC	0.652000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			15	63					0	0	0.006122	0	0
NUP155	9631	broad.mit.edu	37	5	37371140	37371140	+	Translation_Start_Site	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371140G>C	ENST00000231498.3	-	0	143				NUP155_ENST00000513532.1_De_novo_Start_InFrame	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAAGAAAAGATCCAAGAAG	0.567000													5	16					0	0	0.000602	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560228	32560228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560228G>A	ENST00000345122.3	+	2	668	c.353G>A	c.(352-354)cGt>cAt	p.R118H	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R118H|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R118H|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R118H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	118					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.R118H(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATATAAAACGTGCAGCTGCA	0.388000													9	37					0	0	0.006214	0	0
NUP85	79902	broad.mit.edu	37	17	73205991	73205991	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73205991C>T	ENST00000245544.4	+	3	272	c.201C>T	c.(199-201)atC>atT	p.I67I	NUP85_ENST00000541827.1_Silent_p.I21I|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Silent_p.I67I	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	67					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	p.I67I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ACTCTCAAATCTTGAGAAAAC	0.368000													9	69					0	0	0.008291	0	0
KIAA0907	22889	broad.mit.edu	37	1	155896471	155896471	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155896471G>A	ENST00000368320.3	-	6	702	c.677C>T	c.(676-678)tCa>tTa	p.S226L	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S226L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S226L			Q7Z7F0	K0907_HUMAN	KIAA0907	226								p.S226L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATACCCCTGACTGGAAGGG	0.473000													23	59					0	0	0.008361	0	0
ANKRD27	84079	broad.mit.edu	37	19	33089074	33089074	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:33089074C>G	ENST00000306065.4	-	29	3288	c.3130G>C	c.(3130-3132)Gag>Cag	p.E1044Q		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1044					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.E1044Q(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCACTAACCTCTTGGGGAGTG	0.587000													42	58					0	0	0.003610	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509785	106509785	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:106509785T>C	ENST00000359195.3	+	2	2089	c.1779T>C	c.(1777-1779)ttT>ttC	p.F593F	PIK3CG_ENST00000496166.1_Silent_p.F593F|PIK3CG_ENST00000440650.2_Silent_p.F593F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	593					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.F593F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTAAGCTATTTAGTTCAGTGA	0.433000													27	68					0	0	0.009535	0	0
NISCH	11188	broad.mit.edu	37	3	52523592	52523592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52523592G>C	ENST00000345716.4	+	17	3488	c.3354G>C	c.(3352-3354)gaG>gaC	p.E1118D	NISCH_ENST00000479054.1_Missense_Mutation_p.E1118D	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1118					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.E1118D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCTCGGAGGAGAATCAGATCC	0.677000													12	77					0	0	0.010729	0	0
ERLEC1	27248	broad.mit.edu	37	2	54035547	54035547	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:54035547G>A	ENST00000185150.4	+	9	1122	c.991G>A	c.(991-993)Gat>Aat	p.D331N	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.D331N|ERLEC1_ENST00000378239.5_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	331				D -> G (in Ref. 3; BAA91974).	ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	p.D331N(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CAAATTGACAGATGACCAACT	0.398000													14	57					0	0	0.002450	0	0
CLK1	1195	broad.mit.edu	37	2	201721702	201721702	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201721702T>A	ENST00000434813.2	-	8	1299	c.965A>T	c.(964-966)cAc>cTc	p.H322L	CLK1_ENST00000409769.2_Missense_Mutation_p.H103L|CLK1_ENST00000321356.4_Missense_Mutation_p.H280L	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	280	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.H322L(1)|p.H280L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTATTACTGTGCAAAACTGA	0.418000													3	40					0	0	0.004672	0	0
HFE	3077	broad.mit.edu	37	6	26092939	26092939	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26092939C>T	ENST00000357618.5	+	4	765	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	HFE_ENST00000397022.3_Missense_Mutation_p.H192Y|HFE_ENST00000349999.4_Missense_Mutation_p.H127Y|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Intron|HFE_ENST00000353147.5_Missense_Mutation_p.H35Y|HFE_ENST00000309234.6_Missense_Mutation_p.H215Y|HFE_ENST00000317896.7_Missense_Mutation_p.H123Y|HFE_ENST00000470149.1_Intron|HFE_ENST00000461397.1_Intron|HFE_ENST00000488199.1_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	215	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	p.H215Y(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGACACATCATGTGACCTC	0.512000									Hemochromatosis				16	99					0	0	0.007413	0	0
TLR5	7100	broad.mit.edu	37	1	223286345	223286345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:223286345C>T	ENST00000540964.1	-	4	490	c.29G>A	c.(28-30)gGa>gAa	p.G10E	TLR5_ENST00000342210.6_Missense_Mutation_p.G10E			O60602	TLR5_HUMAN	toll-like receptor 5	10					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.G10E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAGCACCACTCCTAGGAGAAG	0.517000													4	29					0	0	0.009096	0	0
PDDC1	347862	broad.mit.edu	37	11	771391	771391	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:771391G>A	ENST00000526325.1	-	6	551	c.527C>T	c.(526-528)tCg>tTg	p.S176L	PDDC1_ENST00000397472.2_Silent_p.F162F|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.F112F|PDDC1_ENST00000319863.8_Silent_p.F162F|PDDC1_ENST00000524550.1_Silent_p.F126F			Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	0						extracellular region		p.F162F(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGGGCGAAGCCGGGGG	0.701000													9	13					0	0	0.006214	0	0
MYH8	4626	broad.mit.edu	37	17	10310054	10310054	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10310054A>C	ENST00000403437.2	-	19	2218	c.2124T>G	c.(2122-2124)tgT>tgG	p.C708W	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	708	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.C708W(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCTTTCCTACAGATGCGGA	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	69					0	0	0.002299	0	0
DENND4B	9909	broad.mit.edu	37	1	153906268	153906268	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:153906268C>G	ENST00000361217.4	-	20	3439	c.3021G>C	c.(3019-3021)ctG>ctC	p.L1007L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1007								p.L895L(1)|p.L1007L(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCCCCTGTCAGGCTCAGGT	0.647000													8	13					0	0	0.003080	0	0
SRCAP	10847	broad.mit.edu	37	16	30721411	30721411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30721411G>A	ENST00000262518.4	+	8	1481	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E366K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E366K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	366	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.E366K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATGGGCCTGAAGAAGGTGC	0.587000													5	21					0	0	0.000602	0	0
ADCK4	79934	broad.mit.edu	37	19	41209631	41209631	+	Missense_Mutation	SNP	C	C	T	rs146225943	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:41209631C>T	ENST00000324464.3	-	8	1007	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	ADCK4_ENST00000450541.1_Missense_Mutation_p.V195M|ADCK4_ENST00000243583.6_Missense_Mutation_p.V195M	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	236	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.V236M(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGGATCTTCACGGCCACCTCC	0.657000													6	70					0	0	0.001168	0	0
ZNF263	10127	broad.mit.edu	37	16	3339480	3339480	+	Missense_Mutation	SNP	G	G	A	rs79713839	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:3339480G>A	ENST00000219069.5	+	6	1850	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF263_ENST00000574253.1_Missense_Mutation_p.E159K|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R325Q(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GACCAGGCCCGAGGGGAGGTG	0.597000													26	111					0	0	0.006320	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676584	7676584	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676584C>G	ENST00000446248.2	+	13	1387	c.1286C>G	c.(1285-1287)tCc>tGc	p.S429C	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S402C	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	402					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.S429C(2)|p.S402C(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGTCCCCTCTCCCAGGCTGTG	0.692000													3	10					0	0	0.004672	0	0
SOS1	6654	broad.mit.edu	37	2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000402219.2_Missense_Mutation_p.E846K|SOS1_ENST00000395038.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF.		E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308000									Noonan syndrome				30	76					0	0	0.010818	0	0
GARNL3	84253	broad.mit.edu	37	9	130111209	130111209	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130111209G>A	ENST00000373387.4	+	17	1790	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GARNL3_ENST00000435213.2_Missense_Mutation_p.E458K|GARNL3_ENST00000314904.5_Missense_Mutation_p.E480K	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.E462K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACAGCCGTGGGAGCCCCAGTG	0.517000													5	27					0	0	0.001168	0	0
RUVBL1	8607	broad.mit.edu	37	3	127831851	127831851	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:127831851G>A	ENST00000464873.1	-	3	811	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	RUVBL1_ENST00000417360.1_Silent_p.L81L|RUVBL1_ENST00000322623.5_Silent_p.L81L			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	81					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.L81L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCAATAGCCAGAGCCAGAGCT	0.483000													9	82					0	0	0.004482	0	0
NACC2	138151	broad.mit.edu	37	9	138903719	138903719	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:138903719G>A	ENST00000371753.1	-	5	1465	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	NACC2_ENST00000277554.2_Silent_p.V469V			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	469					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		p.V469V(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CGGAGCCCATGACCGTGCGGT	0.711000													5	2					0	0	0.000602	0	0
HECTD4	283450	broad.mit.edu	37	12	112609068	112609068	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112609068C>T	ENST00000550722.1	-	68	11743		c.e68-1		HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.?(2)									ATGGGCACGTCTGAGGGCGCA	0.622000													5	9					0	0	0.001168	0	0
LBP	3929	broad.mit.edu	37	20	36982714	36982714	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:36982714C>G	ENST00000217407.2	+	4	560	c.399C>G	c.(397-399)gtC>gtG	p.V133V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	133					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.V133V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATGTCAGTGTCAAGGGCATCA	0.557000													15	121					0	0	0.003163	0	0
ZIC1	7545	broad.mit.edu	37	3	147131226	147131226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:147131226C>T	ENST00000282928.4	+	3	1961	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	411	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S411F(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCATCGTGTCTCCCTCCACA	0.607000													11	72					0	0	0.010729	0	0
THEM4	117145	broad.mit.edu	37	1	151861806	151861806	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:151861806G>A	ENST00000368814.3	-	3	679	c.330C>T	c.(328-330)ctC>ctT	p.L110L	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	110					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		p.L110L(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGGTGAAGAGCTGGGCCT	0.438000													10	116					0	0	0.006214	0	0
MIOS	54468	broad.mit.edu	37	7	7628157	7628157	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:7628157G>C	ENST00000340080.4	+	8	2268	c.1847G>C	c.(1846-1848)aGa>aCa	p.R616T	MIOS_ENST00000405785.1_Missense_Mutation_p.R616T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616								p.R616T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTACGTGACAGAGTGGCATTT	0.343000													13	37					0	0	0.006122	0	0
SVIL	6840	broad.mit.edu	37	10	29820209	29820209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:29820209G>C	ENST00000375398.2	-	12	2467	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	SVIL_ENST00000375400.3_Nonsense_Mutation_p.S279*|SVIL_ENST00000355867.4_Nonsense_Mutation_p.S673*			O95425	SVIL_HUMAN	supervillin	673					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.S673*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGAATGTGAAGTGCACCT	0.333000													11	51					0	0	0.010729	0	0
MRC1	4360	broad.mit.edu	37	10	17949694	17949694	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:17949694A>G	ENST00000331429.2	+	28	4161	c.4058A>G	c.(4057-4059)tAt>tGt	p.Y1353C															p.Y1353C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TACAAAGGATATATTTGTAAA	0.378000													28	121					0	0	0.003271	0	0
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:47576971C>G	ENST00000359314.5	+	16	2201	c.1745C>G	c.(1744-1746)tCc>tGc	p.S582C	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	582					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.S582C(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393000													8	61					0	0	0.003080	0	0
TCP11L2	255394	broad.mit.edu	37	12	106740129	106740129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106740129C>T	ENST00000299045.3	+	10	1555	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	461								p.P461S(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATGCATGCCTCCTATGCCAGG	0.418000													8	49					0	0	0.006214	0	0
LRRC3	81543	broad.mit.edu	37	21	45876864	45876864	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:45876864G>A	ENST00000291592.4	+	2	654	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	113						integral to membrane	protein binding	p.G113R(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGGCCTGGCCGGGGGCCTGCG	0.677000													7	38					0	0	0.003080	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790491	194790491	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:194790491C>T	ENST00000310380.6	-	4	1243	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	XXYLT1_ENST00000356740.5_Missense_Mutation_p.V173I|XXYLT1_ENST00000437101.1_Missense_Mutation_p.V176I|XXYLT1_ENST00000429994.1_Missense_Mutation_p.V233I|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.V176I	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	379						integral to membrane	transferase activity, transferring glycosyl groups	p.V379I(1)									TAGATCTTGACGTGGCCCTCA	0.627000													12	101					0	0	0.001855	0	0
WASF2	10163	broad.mit.edu	37	1	27744801	27744801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27744801G>A	ENST00000430629.2	-	4	603	c.388C>T	c.(388-390)Cct>Tct	p.P130S	WASF2_ENST00000536657.1_Missense_Mutation_p.P130S	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	130					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	p.P130S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		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;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGAGGGGGAGGAGTATCACAG	0.423000													9	28					0	0	0.004482	0	0
PLP2	5355	broad.mit.edu	37	X	49030736	49030736	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:49030736C>T	ENST00000376327.5	+	4	475	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	134	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.P134S(1)|p.F133>?(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TGTCACCTTCCCCGTTCGGCA	0.562000													18	15					0	0	0.007413	0	0
RMND1	55005	broad.mit.edu	37	6	151742433	151742433	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:151742433C>T	ENST00000367303.4	-	9	1148	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V	RMND1_ENST00000336451.3_Silent_p.V131V	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	342								p.V342V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAGATAGTTTCACTTTCTTCC	0.328000													6	35					0	0	0.004482	0	0
PKHD1	5314	broad.mit.edu	37	6	51524156	51524156	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:51524156T>C	ENST00000371117.3	-	61	11043	c.10768A>G	c.(10768-10770)Att>Gtt	p.I3590V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3590					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I3590V(1)|p.Q3589_I3590>HV(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTGGCCAATCTGTAAGAAG	0.433000													4	41					0	0	0.009096	0	0
OR10H1	26539	broad.mit.edu	37	19	15918161	15918161	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15918161G>C	ENST00000334920.2	-	1	775	c.687C>G	c.(685-687)atC>atG	p.I229M		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I229M(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCAGAAGGGATCTTCAAGA	0.567000													9	51					0	0	0.006214	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													3	59					0	0	0.009096	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	48					0	0	0.004672	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													8	16					0	0	0.003080	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546398	112546398	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546398C>T	ENST00000488794.1	-	5	772	c.183G>A	c.(181-183)aaG>aaA	p.K61K	CD200R1L_ENST00000448932.1_Silent_p.K61K|CD200R1L_ENST00000398214.1_Silent_p.K82K			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	82	Ig-like V-type.					integral to membrane	receptor activity	p.K82K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTGTTTCTTTCTTGTAGGCTT	0.438000													13	74					0	0	0.001855	0	0
GRIK1	2897	broad.mit.edu	37	21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31023467C>T	ENST00000399914.1	-	6	1446	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399907.1_Missense_Mutation_p.E309K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.E309K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463000													5	52					0	0	0.000602	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468765	241468765	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:241468765G>T	ENST00000391987.1	-	5	741	c.375C>A	c.(373-375)atC>atA	p.I125I	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000272972.3_Silent_p.I125I|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.I214I|ANKMY1_ENST00000361678.4_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	125							zinc ion binding	p.I125I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGTGGGTGATGAAGCTGG	0.562000													4	28					5.9392e-07	6.23706e-07	0.001168	1	0
GRB7	2886	broad.mit.edu	37	17	37901554	37901554	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:37901554C>G	ENST00000309156.4	+	10	1327	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	GRB7_ENST00000394211.3_Missense_Mutation_p.S357C|GRB7_ENST00000309185.3_Missense_Mutation_p.S357C|GRB7_ENST00000394209.2_Missense_Mutation_p.S357C|GRB7_ENST00000445327.2_Missense_Mutation_p.S380C|GRB7_ENST00000394204.1_Missense_Mutation_p.S357C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	357					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.S357C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCATCCATCTTGTTTGGGC	0.597000													13	34					0	0	0.003163	0	0
RFC1	5981	broad.mit.edu	37	4	39308303	39308303	+	Missense_Mutation	SNP	G	G	A	rs55727832		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:39308303G>A	ENST00000381897.1	-	14	2040	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RFC1_ENST00000349703.2_Missense_Mutation_p.S635F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	636					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.S636F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATCTTTGCCGGAAAATTTACC	0.458000													9	25					0	0	0.004482	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164893	42164893	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:42164893C>T	ENST00000444063.1	+	15	1944	c.1812C>T	c.(1810-1812)ctC>ctT	p.L604L	L3MBTL1_ENST00000373135.3_Silent_p.L604L|L3MBTL1_ENST00000373134.1_Silent_p.L609L|L3MBTL1_ENST00000418998.1_Silent_p.L672L|L3MBTL1_ENST00000427442.2_Silent_p.L672L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	604					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L672L(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGAAGAACCTCTCAGGCTTCT	0.642000													4	15					0	0	0.009096	0	0
CCDC27	148870	broad.mit.edu	37	1	3670737	3670737	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:3670737G>A	ENST00000294600.2	+	2	458	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125								p.R125Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATGGAACTTCGAAGGGTCTTC	0.592000													27	139					0	0	0.006320	0	0
CCDC130	81576	broad.mit.edu	37	19	13873412	13873412	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:13873412G>A	ENST00000586600.1	+	11	1224	c.721G>A	c.(721-723)Gac>Aac	p.D241N	CCDC130_ENST00000221554.8_Missense_Mutation_p.D241N|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	241					response to virus		protein binding	p.D241N(1)		endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGCCTACGAGGACAAGCAGAA	0.622000													3	25					0	0	0.004672	0	0
UVSSA	57654	broad.mit.edu	37	4	1347183	1347183	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:1347183G>A	ENST00000389851.4	+	5	1363	c.916G>A	c.(916-918)Gat>Aat	p.D306N	UVSSA_ENST00000507531.1_Missense_Mutation_p.D306N|UVSSA_ENST00000511216.1_Missense_Mutation_p.D306N	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	306								p.D306N(1)									GTACACGCTGGATGTGGAGCT	0.667000													4	5					0	0	0.009096	0	0
ZEB2	9839	broad.mit.edu	37	2	145161507	145161507	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:145161507C>T	ENST00000558170.2	-	6	1967	c.783G>A	c.(781-783)gtG>gtA	p.V261V	ZEB2_ENST00000303660.4_Silent_p.V261V|ZEB2_ENST00000539609.3_Silent_p.V237V|ZEB2_ENST00000409487.3_Silent_p.V261V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	261						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.V261V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTGTGTGTCACCATATGCC	0.473000													10	97					0	0	0.010729	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731071	23731071	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:23731071C>G	ENST00000397312.2	-	3	556	c.282G>C	c.(280-282)gaG>gaC	p.E94D	ELAVL2_ENST00000380110.4_Missense_Mutation_p.E123D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E94D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E94D|ELAVL2_ENST00000544538.1_Missense_Mutation_p.E94D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	94	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.E94D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGATAGCTTTCTCTGCATCCT	0.358000													6	16					0	0	0.001168	0	0
NLRP7	199713	broad.mit.edu	37	19	55441934	55441934	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55441934T>A	ENST00000588756.1	-	11	3229	c.2743A>T	c.(2743-2745)Ata>Tta	p.I915L	NLRP7_ENST00000340844.2_Missense_Mutation_p.I915L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I915L|NLRP7_ENST00000448121.2_Missense_Mutation_p.I887L|NLRP7_ENST00000328092.5_Missense_Mutation_p.I887L|NLRP7_ENST00000446217.1_Missense_Mutation_p.I943L|NLRP7_ENST00000590030.1_Missense_Mutation_p.I915L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	915							ATP binding	p.I887L(1)|p.I915L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCACGAGCTATCTGGTTGATA	0.443000													14	154					0	0	0.001855	0	0
PRKCD	5580	broad.mit.edu	37	3	53212459	53212459	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:53212459C>T	ENST00000394729.2	+	2	349	c.21C>T	c.(19-21)atC>atT	p.I7I	PRKCD_ENST00000330452.3_Silent_p.I7I|PRKCD_ENST00000477794.2_3'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	7	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.I7I(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		TCCTGCGCATCGCCTTCAACT	0.682000													6	42					0	0	0.003080	0	0
MERTK	10461	broad.mit.edu	37	2	112740456	112740456	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740456G>A	ENST00000295408.4	+	8	1439	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	MERTK_ENST00000409780.1_Silent_p.L218L|MERTK_ENST00000421804.2_Silent_p.L394L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	394	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L394L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTGTGTTTCTGAATGAATCTA	0.448000													36	123					0	0	0.004289	0	0
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:85445395G>A	ENST00000316356.4	-	7	1541	c.977C>T	c.(976-978)tCc>tTc	p.S326F	SYTL2_ENST00000527523.1_Missense_Mutation_p.S277F|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325F|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325F|SYTL2_ENST00000528231.1_Missense_Mutation_p.S325F			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	325					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S326F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448000													23	83					0	0	0.003330	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676406	7676406	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676406C>T	ENST00000446248.2	+	12	1309	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S376F	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	376					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.S403F(2)|p.S376F(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCAGGCTCCCTGAAGTCT	0.632000													3	5					0	0	0.004672	0	0
TRNT1	51095	broad.mit.edu	37	3	3189210	3189210	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:3189210G>A	ENST00000251607.6	+	7	981	c.879G>A	c.(877-879)gtG>gtA	p.V293V	TRNT1_ENST00000280591.6_Silent_p.V273V	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	293					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	p.V293V(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CAAAGCCAGTGACTCTTTTGG	0.353000													22	47					0	0	0.003954	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724377	52724377	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:52724377C>T	ENST00000322088.6	+	12	1567	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PPP2R1A_ENST00000462990.1_Silent_p.F324F|PPP2R1A_ENST00000444322.2_Silent_p.F448F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	503	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.F503F(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTACGCTCTTCTGCATCAATG	0.592000			Mis		clear cell ovarian carcinoma								57	64					0	0	0.003610	0	0
CAMTA2	23125	broad.mit.edu	37	17	4877755	4877755	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:4877755C>G	ENST00000361571.5	-	11	2349	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	CAMTA2_ENST00000348066.3_Missense_Mutation_p.Q647H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.Q647H|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.Q652H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.Q670H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.Q649H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	647					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.Q647H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCTTCTCCATCTGCTCCAGTC	0.587000													10	48					0	0	0.006214	0	0
LATS2	26524	broad.mit.edu	37	13	21562346	21562346	+	Missense_Mutation	SNP	G	G	A	rs147172274	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:21562346G>A	ENST00000382592.4	-	4	1978	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	LATS2_ENST00000542899.1_Missense_Mutation_p.R525C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	525					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R525C(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GACTTGCTGCGCAGCAGCAGG	0.726000													8	47					0	0	0.003080	0	0
EGF	1950	broad.mit.edu	37	4	110882118	110882118	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:110882118C>T	ENST00000265171.5	+	7	1607	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	EGF_ENST00000503392.1_Silent_p.L388L|EGF_ENST00000509793.1_Silent_p.L346L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	388	EGF-like 2; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.L388L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGATTTGTTCTGCTTCCTGA	0.388000													12	54					0	0	0.001855	0	0
OR5M10	390167	broad.mit.edu	37	11	56344784	56344784	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:56344784C>G	ENST00000526812.2	-	1	479	c.414G>C	c.(412-414)aaG>aaC	p.K138N		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K138N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGCAAATGTTCTTGGACATCC	0.468000													4	91					0	0	0.000602	0	0
PSMC3	5702	broad.mit.edu	37	11	47446777	47446777	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:47446777C>G	ENST00000298852.3	-	3	337	c.180G>C	c.(178-180)ttG>ttC	p.L60F	PSMC3_ENST00000602866.1_Missense_Mutation_p.L44F|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.L60F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGTGACTCTCAACACTTCAC	0.473000													15	89					0	0	0.002450	0	0
PRX	57716	broad.mit.edu	37	19	40902869	40902869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:40902869G>A	ENST00000324001.7	-	7	1660	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	464	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.R464*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGGAGTCGAACCTCTGGA	0.612000													70	145					0	0	0.003610	0	0
FOXN2	3344	broad.mit.edu	37	2	48573510	48573510	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:48573510G>C	ENST00000340553.3	+	3	418	c.157G>C	c.(157-159)Gat>Cat	p.D53H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	53					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.D53H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGAGTCAGCAGATGATGAACT	0.448000													11	62					0	0	0.001855	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:1268732G>A	ENST00000339381.5	+	5	1605	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	525					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.E525K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGTGGACTGCGAGGCGGGCAG	0.692000													4	11					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179402447	179402447	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179402447C>T	ENST00000589042.1	-	355	99711	c.99487G>A	c.(99487-99489)Gag>Aag	p.E33163K	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24223K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24290K|TTN_ENST00000591111.1_Missense_Mutation_p.E31522K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30595K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24098K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31522							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E24290K(1)|p.E24098K(1)|p.E30593K(1)|p.E30595K(1)|p.E24223K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTTCCTCTGTCATTACT	0.428000													9	31					0	0	0.006214	0	0
MED25	81857	broad.mit.edu	37	19	50334032	50334032	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:50334032C>G	ENST00000312865.6	+	9	1042	c.989C>G	c.(988-990)cCa>cGa	p.P330R	MED25_ENST00000538643.1_Missense_Mutation_p.P117R	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	330	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		p.P330R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAACTACCCCCAGGACCCCCT	0.706000													40	38					0	0	0.006230	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348372	60348372	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:60348372C>T	ENST00000400324.4	-	27	3490	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	DIAPH3_ENST00000400330.1_Silent_p.Q1090Q|DIAPH3_ENST00000400320.1_Silent_p.Q1044Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Silent_p.Q1079Q|DIAPH3_ENST00000400319.1_Silent_p.Q1020Q|DIAPH3_ENST00000267215.4_Silent_p.Q1090Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1090					actin cytoskeleton organization		actin binding|Rho GTPase binding	p.Q1090Q(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACTGAGACTCTGCCGAACAT	0.328000													19	20					0	0	0.010504	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173950	33173950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173950G>A	ENST00000374662.3	+	7	718	c.691G>A	c.(691-693)Gag>Aag	p.E231K	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	231					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	p.E231K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	GGGGGACCCTGAGGGTGAGCA	0.488000													6	39					0	0	0.001984	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244148	134244148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134244148G>T	ENST00000535456.2	+	17	1893	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.E569*|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.E569*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	569					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.E569*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGAAGCTGGAGGTTGGTAA	0.567000													6	86					3.59834e-05	3.72223e-05	0.001168	1	0
ARID1A	8289	broad.mit.edu	37	1	27087921	27087921	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27087921C>T	ENST00000324856.7	+	6	2579	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	ARID1A_ENST00000374152.2_Silent_p.I353I|ARID1A_ENST00000457599.2_Silent_p.I736I	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	736					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.I736I(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGACAGCATCATGCATCCTT	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	40					0	0	0.004007	0	0
HOXC4	3221	broad.mit.edu	37	12	54448006	54448006	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:54448006G>A	ENST00000430889.2	+	1	346	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HOXC4_ENST00000609810.1_Silent_p.P100P|HOXC4_ENST00000303406.4_Silent_p.P100P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P100P(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCTGCGAGCCGGCGCCTCTCT	0.731000													5	24					0	0	0.000602	0	0
PLP2	5355	broad.mit.edu	37	X	49030735	49030735	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:49030735C>T	ENST00000376327.5	+	4	474	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	133	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	p.F133F(1)|p.F133>?(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						ATGTCACCTTCCCCGTTCGGC	0.557000													17	15					0	0	0.006122	0	0
LOC647323	647323	broad.mit.edu	37	3	193711614	193711614	+	RNA	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:193711614C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TCAGGCGTATCTTGCTGTTGT	0.458000													7	12					0	0	0.001984	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560018	32560018	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560018A>G	ENST00000345122.3	+	2	458	c.143A>G	c.(142-144)gAa>gGa	p.E48G	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E48G|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E48G|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E48G	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	48					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.E48G(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAGCAGATGAATATTATCCA	0.383000													21	40					0	0	0.002299	0	0
MACF1	23499	broad.mit.edu	37	1	39800811	39800811	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39800811G>C	ENST00000564288.1	+	37	9328	c.8551G>C	c.(8551-8553)Gat>Cat	p.D2851H	MACF1_ENST00000372915.3_Missense_Mutation_p.D2856H|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D1291H|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D2888H|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2856					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.D1291H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGTGCAAGGATCAACGTAA	0.383000													14	339					0	0	0.002450	0	0
CPT1A	1374	broad.mit.edu	37	11	68525189	68525189	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68525189G>A	ENST00000265641.5	-	19	2399	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Missense_Mutation_p.R749C	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	749					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R749C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCCAAAGCGATGAGAATCC	0.398000													8	74					0	0	0.003080	0	0
SMAP1	60682	broad.mit.edu	37	6	71566608	71566608	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:71566608C>T	ENST00000370455.3	+	9	1084	c.836C>T	c.(835-837)tCt>tTt	p.S279F	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Missense_Mutation_p.S252F|SMAP1_ENST00000316999.5_Missense_Mutation_p.S252F	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	279					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.S252F(1)|p.S279F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ACAGTAACATCTGGGGATCTA	0.428000													7	82					0	0	0.001984	0	0
EXT1	2131	broad.mit.edu	37	8	119122991	119122991	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:119122991G>A	ENST00000378204.2	-	1	1101	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	99					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.R99C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACTCCATGCGGCACTTCTTG	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				13	71					0	0	0.001855	0	0
PCDH10	57575	broad.mit.edu	37	4	134072563	134072563	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:134072563G>A	ENST00000264360.5	+	1	2094	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R423Q(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTGGACCGAGAGGCGGGG	0.592000													34	155					0	0	0.006999	0	0
TLR10	81793	broad.mit.edu	37	4	38776503	38776503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:38776503G>C	ENST00000308973.4	-	4	1314	c.709C>G	c.(709-711)Ctt>Gtt	p.L237V	TLR10_ENST00000506111.1_Missense_Mutation_p.L237V|TLR10_ENST00000508334.1_Missense_Mutation_p.L237V|TLR10_ENST00000361424.2_Missense_Mutation_p.L237V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	237					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.L237V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCTAAACTAAGATTTCGTTGC	0.328000													14	24					0	0	0.003163	0	0
OTX2	5015	broad.mit.edu	37	14	57270957	57270957	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:57270957G>A	ENST00000339475.5	-	4	498	c.222C>T	c.(220-222)ttC>ttT	p.F74F	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000555006.1_Silent_p.F66F|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000408990.3_Silent_p.F66F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	66					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.F74F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTCTCGCATGAAGATGTCTG	0.597000													21	31					0	0	0.012319	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481238	142481238	+	RNA	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:142481238G>C	ENST00000603901.1	+	0	312					NR_001296.3													p.L104L(1)									GGATTATTCTGAACAATGACA	0.527000													5	38					0	0	0.004482	0	0
MEIS2	4212	broad.mit.edu	37	15	37390256	37390256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:37390256C>T	ENST00000338564.5	-	3	603	c.157G>A	c.(157-159)Gcg>Acg	p.A53T	MEIS2_ENST00000561208.1_Missense_Mutation_p.A53T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A53T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A53T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A40T|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.A40T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A53T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A40T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A53T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	53					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A53T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGCGTGCGCGCCGTAGTGC	0.667000													8	43					0	0	0.008291	0	0
PNPO	55163	broad.mit.edu	37	17	46023710	46023710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:46023710G>A	ENST00000225573.4	+	6	673	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PNPO_ENST00000544840.1_Missense_Mutation_p.E172K|PNPO_ENST00000534893.1_Missense_Mutation_p.E95K|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.E147K	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	190					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	p.E190K(1)		endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GAAAAATGAGGAACTGGAACA	0.493000													3	34					0	0	0.009096	0	0
MOCOS	55034	broad.mit.edu	37	18	33780103	33780103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:33780103C>T	ENST00000261326.5	+	4	778	c.757C>T	c.(757-759)Cac>Tac	p.H253Y		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	253					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.H253Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCTGTCAGCTCACCAGGCCGA	0.587000													14	37					0	0	0.004007	0	0
DOT1L	84444	broad.mit.edu	37	19	2216699	2216699	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216699G>A	ENST00000398665.3	+	20	2379	c.2343G>A	c.(2341-2343)ctG>ctA	p.L781L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	781						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.L781L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATTGTGCTGAGGCGGCACC	0.692000													7	61					0	0	0.003080	0	0
ZNF812	729648	broad.mit.edu	37	19	9801569	9801569	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:9801569G>C	ENST00000457674.2	-	5	1128	c.610C>G	c.(610-612)Cat>Gat	p.H204D	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H204D(1)		ovary(1)	1						TGTGAGGAATGAGTGATGGCT	0.363000													4	19					0	0	0.009096	0	0
DOT1L	84444	broad.mit.edu	37	19	2210754	2210754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210754G>A	ENST00000398665.3	+	14	1287	c.1251G>A	c.(1249-1251)atG>atA	p.M417I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	417						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.M417I(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGAAGATGAACACTGCGA	0.617000													10	66					0	0	0.006214	0	0
AOX1	316	broad.mit.edu	37	2	201526320	201526320	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201526320G>A	ENST00000374700.2	+	30	3635	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1132					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.E1132K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGCTTTTGATGAAAGCATTAA	0.403000													10	92					0	0	0.008291	0	0
BOP1	23246	broad.mit.edu	37	8	145512853	145512853	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:145512853C>T	ENST00000307404.5	-	2	261	c.232G>A	c.(232-234)Gac>Aac	p.D78N	BOP1_ENST00000529231.1_Silent_p.A5A	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	78					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding	p.D78N(1)		lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			CCCTCCTCGTCGCCTTCGTCA	0.612000													9	50					0	0	0.008291	0	0
TMEM145	284339	broad.mit.edu	37	19	42819374	42819374	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:42819374C>G	ENST00000598766.1	+	7	612	c.612C>G	c.(610-612)atC>atG	p.I204M	TMEM145_ENST00000301204.3_Missense_Mutation_p.I180M			Q8NBT3	TM145_HUMAN	transmembrane protein 145	180						integral to membrane		p.I180M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcctcctcatcttcatcctca	0.547000													15	75					0	0	0.002450	0	0
MEP1A	4224	broad.mit.edu	37	6	46801038	46801038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:46801038C>T	ENST00000230588.4	+	11	1381	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	458	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R458*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCAGAGCCCTCGATTCTACAA	0.498000													23	46					0	0	0.002780	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	160					0	0	0.000602	0	0
SULF2	55959	broad.mit.edu	37	20	46307544	46307544	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:46307544G>A	ENST00000359930.4	-	8	1920	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SULF2_ENST00000467815.1_Missense_Mutation_p.P357S|SULF2_ENST00000361612.4_Missense_Mutation_p.P357S|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.P357S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	357					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.P357S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACGATGTGGGGATTCCTGGGG	0.617000													12	96					0	0	0.003163	0	0
MYH15	22989	broad.mit.edu	37	3	108203941	108203941	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:108203941C>G	ENST00000273353.3	-	12	1227	c.1171G>C	c.(1171-1173)Gaa>Caa	p.E391Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	391	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E391Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTACTTTCTGTGCCATCT	0.383000													19	48					0	0	0.008871	0	0
NOS2	4843	broad.mit.edu	37	17	26101427	26101427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26101427C>A	ENST00000313735.6	-	12	1565	c.1332G>T	c.(1330-1332)atG>atT	p.M444I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	444					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.M444I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCATGTACTTCATGAAGGATT	0.557000													10	62					3.07112e-06	3.20082e-06	0.010729	1	0
IWS1	55677	broad.mit.edu	37	2	128260414	128260414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128260414C>T	ENST00000295321.4	-	5	1703	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	IWS1_ENST00000455721.2_Missense_Mutation_p.D489N|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	482	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.D482N(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCTTCATCACCAGATTCT	0.308000													13	36					0	0	0.002450	0	0
VWA5A	4013	broad.mit.edu	37	11	124012328	124012328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124012328G>C	ENST00000456829.2	+	16	2154	c.1903G>C	c.(1903-1905)Gac>Cac	p.D635H	VWA5A_ENST00000360334.4_Silent_p.L396L|VWA5A_ENST00000392748.1_Missense_Mutation_p.D635H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	635								p.D635H(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTTACACTCTGACCGTCCTCC	0.463000													25	47					0	0	0.005443	0	0
USP25	29761	broad.mit.edu	37	21	17236685	17236685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:17236685C>G	ENST00000285681.2	+	20	2901	c.2532C>G	c.(2530-2532)atC>atG	p.I844M	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.I882M|USP25_ENST00000285679.6_Missense_Mutation_p.I812M	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	812					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I812M(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCTACTTTATCCAGAACCAGG	0.348000													23	30					0	0	0.003330	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959334	10959334	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:10959334C>T	ENST00000240615.2	-	1	558	c.246G>A	c.(244-246)caG>caA	p.Q82Q		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	82					sensory perception of taste	integral to membrane	taste receptor activity	p.Q82Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATGACTATCTGTTGTTTAT	0.343000													10	66					0	0	0.006214	0	0
BDH2	56898	broad.mit.edu	37	4	104013836	104013836	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:104013836G>A	ENST00000296424.4	-	4	289	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	57					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.L57F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GTGACATCAAGGACACGAGTT	0.338000													4	9					0	0	0.009096	0	0
CUL7	9820	broad.mit.edu	37	6	43008354	43008354	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:43008354C>G	ENST00000535468.1	-	21	4275	c.4189G>C	c.(4189-4191)Gag>Cag	p.E1397Q	CUL7_ENST00000265348.3_Missense_Mutation_p.E1313Q	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1313					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.E1313Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGCTGCAGCTCCTTAGAGGTG	0.602000													27	129					0	0	0.006320	0	0
PIGA	5277	broad.mit.edu	37	X	15349792	15349792	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15349792G>C	ENST00000333590.4	-	2	345	c.261C>G	c.(259-261)ctC>ctG	p.L87L	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	87					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.L87L(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AATAGACTTTGAGGCCACTGG	0.463000													41	42					0	0	0.003610	0	0
PAQR8	85315	broad.mit.edu	37	6	52268302	52268302	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52268302C>T	ENST00000442253.2	+	2	465	c.291C>T	c.(289-291)gcC>gcT	p.A97A	PAQR8_ENST00000360726.3_Silent_p.A97A	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	97					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.A97A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGGCCTTTGCCGAGGCTGAGG	0.577000													13	84					0	0	0.001368	0	0
ZFP37	7539	broad.mit.edu	37	9	115805729	115805729	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:115805729G>C	ENST00000374227.3	-	4	1196	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.S405*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.S391*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	390						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S390*(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATAAGGTTTGAGCTGTGTCT	0.413000													16	84					0	0	0.004007	0	0
DSP	1832	broad.mit.edu	37	6	7581110	7581110	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:7581110C>G	ENST00000379802.3	+	23	5028	c.4687C>G	c.(4687-4689)Ctg>Gtg	p.L1563V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1563	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.L1563V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGAACTCTCTGAAAGAGCT	0.542000													32	51					0	0	0.010818	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173008	33173008	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173008C>G	ENST00000374662.3	+	3	308	c.281C>G	c.(280-282)tCt>tGt	p.S94C	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	94					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	p.S94C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	GCCTGCTTTTCTCGCCCACCA	0.547000													5	44					0	0	0.000602	0	0
AZI1	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	923					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652000													20	66					0	0	0.010504	0	0
PSD3	23362	broad.mit.edu	37	8	18622977	18622977	+	Silent	SNP	G	G	A	rs139539737	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:18622977G>A	ENST00000440756.2	-	9	2262	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	PSD3_ENST00000523619.1_Silent_p.F653F|PSD3_ENST00000286485.8_Silent_p.F184F|PSD3_ENST00000327040.8_Silent_p.F718F			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	719	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.F184F(1)|p.F720F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GATCCTTGGAGAAATCAACAC	0.393000													17	83					0	0	0.008871	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210005	3210005	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:3210005G>T	ENST00000380059.3	-	15	2066	c.1965C>A	c.(1963-1965)ttC>ttA	p.F655L	SLC4A11_ENST00000380056.3_Missense_Mutation_p.F628L|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.F612L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	628	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.F655L(1)|p.F628L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATTTCCCGGAAGCCATGGG	0.667000													6	49					2.0095e-06	2.1007e-06	0.001984	1	0
COMP	1311	broad.mit.edu	37	19	18896563	18896563	+	Missense_Mutation	SNP	C	C	T	rs145034923		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:18896563C>T	ENST00000542601.2	-	13	1878	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	COMP_ENST00000222271.2_Missense_Mutation_p.D530N|COMP_ENST00000425807.1_Missense_Mutation_p.D477N			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	530					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.D530N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCCTGAAGTCGGTGAGCGTG	0.627000													16	29					0	0	0.006122	0	0
UBR7	55148	broad.mit.edu	37	14	93693381	93693381	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:93693381G>C	ENST00000013070.6	+	11	1514	c.1278G>C	c.(1276-1278)taG>taC	p.*426Y	UBR7_ENST00000416753.1_Nonstop_Mutation_p.*350Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	0							ubiquitin-protein ligase activity|zinc ion binding	p.*426Y(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ACTGCAGCTAGAGTGGAGTAT	0.428000													10	35					0	0	0.006214	0	0
DOCK8	81704	broad.mit.edu	37	9	422095	422095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:422095G>C	ENST00000432829.2	+	33	4313	c.3997G>C	c.(3997-3999)Gag>Cag	p.E1333Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E868Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1301Q|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000453981.1_Missense_Mutation_p.E1401Q	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1401	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.E1333Q(1)|p.E1401Q(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGAAGAAAGAGCAGACACA	0.413000													3	38					0	0	0.009096	0	0
RNF113B	140432	broad.mit.edu	37	13	98829136	98829136	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:98829136C>T	ENST00000267291.6	-	1	383	c.355G>A	c.(355-357)Gag>Aag	p.E119K	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	119							nucleic acid binding|zinc ion binding	p.E119K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTCCTTCTCGGTGTCCTGC	0.667000													22	35					0	0	0.002299	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75941732	75941732	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:75941732G>C	ENST00000262207.4	+	14	1899	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q289H|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.Q291H	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	477	LCCL 2.					extracellular region		p.Q477H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTCTTTTCAGAATGGAATCT	0.373000													4	30					0	0	0.001168	0	0
BMP1	649	broad.mit.edu	37	8	22058657	22058657	+	Missense_Mutation	SNP	C	C	T	rs145042921		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:22058657C>T	ENST00000306349.8	+	16	2288	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron	NM_001199.3	NP_001190.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	556	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.R712W(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCCCCCTCGGGGACGCCC	0.627000													23	99					0	0	0.002299	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543084	133543084	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:133543084C>T	ENST00000409261.1	-	14	1673	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E434K|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	434							protein binding	p.E434K(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATATTCCTTCATTCGAGTTC	0.458000													12	55					0	0	0.001855	0	0
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:23112846C>T	ENST00000397677.1	+	4	1206	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CHMP7_ENST00000313219.7_Silent_p.L186L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	186					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	p.L186L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582000													18	21					0	0	0.006122	0	0
MSH3	4437	broad.mit.edu	37	5	79950603	79950603	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:79950603G>A	ENST00000265081.6	+	1	137	c.57G>A	c.(55-57)gcG>gcA	p.A19A	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	19					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.A19A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAGCCCCTGCGAGGCAAGCGG	0.682000								Mismatch excision repair (MMR)					6	12					0	0	0.003080	0	0
USH2A	7399	broad.mit.edu	37	1	216243607	216243607	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:216243607C>T	ENST00000366943.2	-	30	6271	c.5885G>A	c.(5884-5886)aGa>aAa	p.R1962K	USH2A_ENST00000307340.3_Missense_Mutation_p.R1962K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1962	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R1962K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGCGGACTCTTGAGGGAGT	0.428000										HNSCC(13;0.011)			6	44					0	0	0.001168	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147767	45147767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:45147767G>C	ENST00000458659.2	-	1	2934	c.2444C>G	c.(2443-2445)tCa>tGa	p.S815*	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	815	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.S815*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAACTGCTGTGAAACAATTCC	0.468000													18	101					0	0	0.004990	0	0
OSBP2	23762	broad.mit.edu	37	22	31266642	31266642	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:31266642C>T	ENST00000332585.6	+	3	1184	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	OSBP2_ENST00000382310.3_Silent_p.F360F|OSBP2_ENST00000403222.3_Silent_p.F195F|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000407373.1_Silent_p.F187F|OSBP2_ENST00000446658.2_Silent_p.F360F|OSBP2_ENST00000437268.2_Silent_p.F102F	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	360					lipid transport	membrane	lipid binding	p.F360F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCACCCTCTTCCGCATCACAT	0.647000													7	24					0	0	0.001984	0	0
LRFN5	145581	broad.mit.edu	37	14	42355925	42355925	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:42355925C>G	ENST00000554171.1	+	5	2529	c.97C>G	c.(97-99)Ctt>Gtt	p.L33V	LRFN5_ENST00000298119.4_Missense_Mutation_p.L33V|LRFN5_ENST00000554120.1_Missense_Mutation_p.L33V			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	33	LRRNT.					integral to membrane		p.L33V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCTCCTAATCTTGCAACCCT	0.383000										HNSCC(30;0.082)			7	34					0	0	0.001984	0	0
C11orf85	283129	broad.mit.edu	37	11	64708057	64708057	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64708057A>C	ENST00000536065.1	-	10	1585	c.281T>G	c.(280-282)gTc>gGc	p.V94G	C11orf85_ENST00000432175.1_Missense_Mutation_p.S179A|C11orf85_ENST00000301896.5_Missense_Mutation_p.S179A|C11orf85_ENST00000530444.1_Missense_Mutation_p.V122G			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	0								p.S179A(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTGTTTCTGGACATCAGTGAT	0.408000													17	78					0	0	0.008871	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196685	74196685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196685C>G	ENST00000286523.5	-	4	2535	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E585Q	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.E585Q(1)									TTCATGTCCTCTGCCTGGAGA	0.567000													10	26					0	0	0.006214	0	0
TRIO	7204	broad.mit.edu	37	5	14472765	14472765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:14472765G>A	ENST00000344204.4	+	39	6001	c.5977G>A	c.(5977-5979)Gag>Aag	p.E1993K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1993K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1993	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.E1993K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTATGTGGTTGAGGTGTGTAT	0.393000													15	62					0	0	0.004990	0	0
ACAD8	27034	broad.mit.edu	37	11	134131719	134131719	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134131719G>A	ENST00000281182.4	+	9	1133	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.E266K|ACAD8_ENST00000374752.4_Missense_Mutation_p.E216K	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	343					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.E343*(1)|p.E343K(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCTGCAGGAGGAGAGGAAGGA	0.567000													14	27					0	0	0.002450	0	0
TTC12	54970	broad.mit.edu	37	11	113210177	113210177	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113210177G>C	ENST00000393020.1	+	10	1212	c.807G>C	c.(805-807)ctG>ctC	p.L269L	TTC12_ENST00000529221.1_Silent_p.L269L|TTC12_ENST00000314756.3_Silent_p.L269L|TTC12_ENST00000483239.2_Silent_p.L275L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	269							binding	p.L269L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTGAGATCCTGACTGAAATGA	0.498000													11	52					0	0	0.001368	0	0
KCNA1	3736	broad.mit.edu	37	12	5021802	5021802	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:5021802G>C	ENST00000382545.3	+	2	2365	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	420					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.E420Q(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGAGAAACTGAGGGGGAAGA	0.527000													6	569					0	0	0.001984	0	0
PER2	8864	broad.mit.edu	37	2	239184478	239184478	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:239184478C>T	ENST00000254657.3	-	4	633	c.354G>A	c.(352-354)ctG>ctA	p.L118L	PER2_ENST00000355768.2_Silent_p.L118L|PER2_ENST00000440245.1_Silent_p.L118L|PER2_ENST00000254658.3_Silent_p.L118L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	118					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.L118L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTGGACCTTCAGCTCCTTTA	0.517000													12	65					0	0	0.001368	0	0
A2M	2	broad.mit.edu	37	12	9229475	9229475	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:9229475C>G	ENST00000318602.7	-	28	3716	c.3409G>C	c.(3409-3411)Gaa>Caa	p.E1137Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1137					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.E1137Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGTCCCCTTCTTGTGCTGTC	0.512000													12	115					0	0	0.001855	0	0
PSKH2	85481	broad.mit.edu	37	8	87076269	87076269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:87076269G>C	ENST00000276616.2	-	2	851	c.777C>G	c.(775-777)ttC>ttG	p.F259L		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	259	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.F259L(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CAAAAGGCAGGAATCCGCTAA	0.408000													10	58					0	0	0.006214	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869328	31869328	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31869328C>T	ENST00000334058.2	-	1	123	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	34						intermediate filament		p.R34K(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATAACCCAGTCTGCGGAAGCT	0.527000													26	119					0	0	0.006320	0	0
TRIB1	10221	broad.mit.edu	37	8	126448548	126448548	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:126448548C>G	ENST00000311922.3	+	3	1536	c.954C>G	c.(952-954)ctC>ctG	p.L318L	TRIB1_ENST00000520847.1_Silent_p.L152L|TRIB1_ENST00000519576.1_Silent_p.L87L	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	318	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.L318L(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTCGCAGCCTCTTGAGACGGG	0.562000													7	94					0	0	0.001984	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901357	74901357	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74901357C>T	ENST00000569840.2	+	7	1371	c.797C>T	c.(796-798)gCg>gTg	p.A266V	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A266V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A277V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	266						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.A266V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCAGTGGGCGCTGGCTGCC	0.642000													9	37					0	0	0.010729	0	0
RBFA	79863	broad.mit.edu	37	18	77794586	77794586	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:77794586G>A	ENST00000569722.1	+	1	241	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RBFA_ENST00000262197.7_Missense_Mutation_p.E31K|RBFA_ENST00000306735.5_Missense_Mutation_p.E31K|RBFA_ENST00000586847.1_3'UTR														p.E31K(1)									TCCAGGCTGCGAGCGGGGACT	0.682000													11	17					0	0	0.010729	0	0
FOXL1	2300	broad.mit.edu	37	16	86612413	86612413	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:86612413C>G	ENST00000320241.3	+	1	299	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	28					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L28L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GACCCGGCCTCCCTCTGGCCT	0.692000													6	41					0	0	0.010729	0	0
PDE1A	5136	broad.mit.edu	37	2	183094834	183094834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:183094834C>T	ENST00000435564.1	-	6	822	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	PDE1A_ENST00000351439.5_Missense_Mutation_p.E192K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E192K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E208K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E208K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E104K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E174K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E208K|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.E208K	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	208	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E208K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAACCAACTTCTAAAGCTTCT	0.333000													6	35					0	0	0.001168	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839957	173839957	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839957C>T	ENST00000367701.5	+	2	785	c.594C>T	c.(592-594)atC>atT	p.I198I	ZBTB37_ENST00000367702.1_Silent_p.I198I|ZBTB37_ENST00000427304.1_Silent_p.I198I|ZBTB37_ENST00000367704.1_Silent_p.I198I|ZBTB37_ENST00000432989.1_Silent_p.I198I			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I198I(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCCTCAGATCATTGAACCAA	0.557000													11	40					0	0	0.001855	0	0
SPTLC1	10558	broad.mit.edu	37	9	94809522	94809522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94809522G>T	ENST00000262554.2	-	11	1018	c.1013C>A	c.(1012-1014)tCa>tAa	p.S338*		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	338						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.S338*(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAACGAAGCTGAAAAGCAGTA	0.438000													9	48					4.68919e-08	4.93937e-08	0.008291	1	0
CLCA1	1179	broad.mit.edu	37	1	86954697	86954697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86954697C>T	ENST00000234701.3	+	9	1552	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P401S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	401	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.P401S(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GAAGAAATATCCAACTGATGG	0.433000													43	50					0	0	0.011902	0	0
BMPR2	659	broad.mit.edu	37	2	203420557	203420557	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:203420557C>T	ENST00000374580.4	+	12	2708	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	723					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.F723F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGCAGGACTTCACACAGACTG	0.473000													9	68					0	0	0.004482	0	0
ATG2A	23130	broad.mit.edu	37	11	64669472	64669472	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64669472C>T	ENST00000421419.2	-	29	4201	c.4087G>A	c.(4087-4089)Gag>Aag	p.E1363K	ATG2A_ENST00000377264.3_Missense_Mutation_p.E1361K			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1361							protein binding	p.E1361K(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGCAGAACTCATCACTGTCC	0.622000													9	74					0	0	0.006214	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128891	68128891	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68128891C>G	ENST00000585558.1	+	4	1156	c.768C>G	c.(766-768)ctC>ctG	p.L256L	KCNJ16_ENST00000283936.1_Silent_p.L221L|KCNJ16_ENST00000586462.1_Silent_p.L260L|KCNJ16_ENST00000589377.1_Silent_p.L221L|KCNJ16_ENST00000392670.1_Silent_p.L221L|KCNJ16_ENST00000392671.1_Silent_p.L221L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	221					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L221L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCCAACTTCTCCGCTATACAG	0.473000													9	51					0	0	0.006214	0	0
NPHS1	4868	broad.mit.edu	37	19	36322010	36322010	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36322010C>T	ENST00000378910.5	-	27	3425	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	NPHS1_ENST00000353632.6_Silent_p.L1102L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1142					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.L1142L(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587000													15	145					0	0	0.003163	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489913	72489913	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:72489913G>A	ENST00000373208.1	+	6	1010	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R337H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R337H(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGGTGTGTCGCTGGGCACAC	0.662000													9	49					0	0	0.008291	0	0
MET	4233	broad.mit.edu	37	7	116409824	116409824	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116409824G>C	ENST00000397752.3	+	12	2909	c.2709G>C	c.(2707-2709)ttG>ttC	p.L903F	MET_ENST00000318493.6_Missense_Mutation_p.L921F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	903					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L921F(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)			TGCTGAAATTGAACAGCGAGC	0.373000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				5	26					0	0	0.000602	0	0
FAM101B	359845	broad.mit.edu	37	17	293277	293277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:293277G>A	ENST00000329099.4	-	2	112	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	108								p.S38F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CTTGACCAAGGAGGTGTACCT	0.657000													10	48					0	0	0.008291	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67514862	67514862	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514862T>A	ENST00000290949.3	-	1	278	c.128A>T	c.(127-129)gAg>gTg	p.E43V	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.E43V	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	43					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		p.E43V(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCTCACCCTCTAGCGTCTC	0.672000													13	38					0	0	0.004007	0	0
ZNF721	170960	broad.mit.edu	37	4	435805	435805	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:435805C>T	ENST00000338977.5	-	2	2463	c.2415G>A	c.(2413-2415)gcG>gcA	p.A805A	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.A817A					zinc finger protein 721									p.A817A(1)|p.A587A(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AACTAGTAAACGCTTTACCAC	0.393000													12	44					0	0	0.002450	0	0
POLA1	5422	broad.mit.edu	37	X	24906201	24906201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:24906201C>G	ENST00000379068.3	+	35	4169	c.4126C>G	c.(4126-4128)Ctt>Gtt	p.L1376V	POLA1_ENST00000379059.3_Missense_Mutation_p.L1370V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1370					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.L1370V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AACTGGGCCTCTTTGCCCAGC	0.493000													12	17					0	0	0.001368	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792004	11792004	+	Missense_Mutation	SNP	C	C	T	rs143169078		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:11792004C>T	ENST00000356957.3	-	8	1272	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E362K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	389					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.E362K(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGATGACTTTCGGCCAGGGGA	0.512000													15	89					0	0	0.006122	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47425167	47425167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47425167C>T	ENST00000404338.3	+	1	3235	c.3235C>T	c.(3235-3237)Cag>Tag	p.Q1079*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1079					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.Q1079*(2)									CTGGCTGCCTCAGGATGGGTT	0.478000													28	24					0	0	0.006320	0	0
TNXB	7148	broad.mit.edu	37	6	32016366	32016366	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:32016366C>T	ENST00000375244.3	-	29	10020	c.9819G>A	c.(9817-9819)gtG>gtA	p.V3273V	TNXB_ENST00000375247.2_Silent_p.V3271V			P22105	TENX_HUMAN	tenascin XB	3318	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.V3273V(1)|p.V3338V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCCGAGGTCACGGCCGCCA	0.701000													4	22					0	0	0.009096	0	0
KIF18A	81930	broad.mit.edu	37	11	28045346	28045346	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:28045346T>A	ENST00000263181.6	-	16	2846	c.2556A>T	c.(2554-2556)aaA>aaT	p.K852N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	852					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.K852N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTCGAACACGTTTGGCAAATC	0.323000													6	44					0	0	0.001984	0	0
NUMA1	4926	broad.mit.edu	37	11	71715792	71715792	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:71715792C>T	ENST00000393695.3	-	24	6231	c.5900G>A	c.(5899-5901)cGa>cAa	p.R1967Q	NUMA1_ENST00000351960.6_Missense_Mutation_p.R831Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1953Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1967					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R1967Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CATGCTGGCTCGGCGCAGGGT	0.627000			T	RARA	APL								17	27					0	0	0.004990	0	0
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267125G>C	ENST00000252108.3	+	20	3302	c.3171G>C	c.(3169-3171)gaG>gaC	p.E1057D	UBE4A_ENST00000431736.2_Missense_Mutation_p.E1064D|UBE4A_ENST00000545354.1_Missense_Mutation_p.E529D	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1057					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.E1064D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438000													7	48					0	0	0.006214	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503600	140503600	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140503600G>A	ENST00000194152.1	+	1	2020	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E674K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCTCCCTGAGGCGGCCCC	0.677000													43	76					0	0	0.011902	0	0
KMT2B	9757	broad.mit.edu	37	19	36218436	36218436	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36218436G>C	ENST00000420124.1	+	16	4215	c.4215G>C	c.(4213-4215)ctG>ctC	p.L1405L	KMT2B_ENST00000222270.7_Silent_p.L1405L|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B									p.L1407L(2)									GAGAGGCCCTGAGCGGGGCCC	0.687000													16	118					0	0	0.004007	0	0
OTUD6A	139562	broad.mit.edu	37	X	69282886	69282886	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:69282886G>C	ENST00000338352.2	+	1	546	c.512G>C	c.(511-513)cGc>cCc	p.R171P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	171	OTU.							p.R171P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGATGCTGCGCTGCCGCACC	0.617000													5	8					0	0	0.001168	0	0
TTC21B	79809	broad.mit.edu	37	2	166747011	166747011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:166747011C>G	ENST00000243344.7	-	24	3378	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	TTC21B_ENST00000536175.1_Missense_Mutation_p.E19Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1081						cilium axoneme|cytoplasm|cytoskeleton	binding	p.E1081Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCCAGGTTTTCAAATACTTCA	0.358000													16	23					0	0	0.004007	0	0
APEH	327	broad.mit.edu	37	3	49713611	49713611	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49713611G>A	ENST00000296456.5	+	6	965	c.565G>A	c.(565-567)Gat>Aat	p.D189N	APEH_ENST00000438011.1_Missense_Mutation_p.D189N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	189					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.D189N(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCAGCGATGATGAGATAGC	0.592000													6	46					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	21063188	21063188	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21063188G>A	ENST00000261383.3	-	29	4040	c.4041C>T	c.(4039-4041)gcC>gcT	p.A1347A	DNAH3_ENST00000415178.1_Splice_Site_p.A1347A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1347	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A1347A(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACGTCGCGGGCTGTTGGGA	0.522000													20	44					0	0	0.010504	0	0
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151163978G>C	ENST00000282466.3	-	4	3790	c.3791C>G	c.(3790-3792)tCt>tGt	p.S1264C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458000													24	114					0	0	0.003330	0	0
SYNE2	23224	broad.mit.edu	37	14	64519306	64519306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:64519306C>T	ENST00000358025.3	+	48	8905	c.8675C>T	c.(8674-8676)tCa>tTa	p.S2892L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S2892L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S2925L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2892					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S2892L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGAATCTCAACACATCTT	0.413000													21	17					0	0	0.012319	0	0
MTMR11	10903	broad.mit.edu	37	1	149905798	149905798	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149905798C>G	ENST00000439741.2	-	8	971	c.721G>C	c.(721-723)Gac>Cac	p.D241H	MTMR11_ENST00000406732.3_Missense_Mutation_p.D213H|MTMR11_ENST00000369140.3_Missense_Mutation_p.D169H|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	241	Myotubularin phosphatase.						phosphatase activity	p.D241H(1)|p.D169H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCACTGTCCAGAATTCGG	0.493000													55	194					0	0	0.003610	0	0
HTR4	3360	broad.mit.edu	37	5	147928298	147928298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:147928298G>A	ENST00000360693.3	-	4	424	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	HTR4_ENST00000517929.1_Missense_Mutation_p.R96W|HTR4_ENST00000520514.1_Missense_Mutation_p.R96W|HTR4_ENST00000314512.6_Missense_Mutation_p.R96W|HTR4_ENST00000521735.1_Missense_Mutation_p.R96W|HTR4_ENST00000354217.2_Missense_Mutation_p.R96W|HTR4_ENST00000521530.1_Missense_Mutation_p.R96W|HTR4_ENST00000377888.3_Missense_Mutation_p.R96W|HTR4_ENST00000362016.2_Missense_Mutation_p.R96W	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	96					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	p.R96W(3)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGAGATGTCCGAACAAGACAA	0.502000													3	13					0	0	0.009096	0	0
MSH2	4436	broad.mit.edu	37	2	47693913	47693913	+	Missense_Mutation	SNP	G	G	A	rs63750675		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:47693913G>A	ENST00000406134.1	+	10	1689	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	MSH2_ENST00000233146.2_Missense_Mutation_p.D543N|MSH2_ENST00000543555.1_Missense_Mutation_p.D477N			P43246	MSH2_HUMAN	mutS homolog 2	543					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.D543N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGTACTGTAGATATCCAGAA	0.323000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				20	72					0	0	0.002299	0	0
HAS3	3038	broad.mit.edu	37	16	69143494	69143494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:69143494G>C	ENST00000306560.1	+	2	352	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	HAS3_ENST00000219322.3_Missense_Mutation_p.E66Q|HAS3_ENST00000569188.1_Missense_Mutation_p.E66Q	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	66					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.E66Q(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCCTTCCTGGAGCACCGGCG	0.647000													8	32					0	0	0.006214	0	0
RECQL5	9400	broad.mit.edu	37	17	73623508	73623508	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623508C>G	ENST00000317905.5	-	20	3129	c.2970G>C	c.(2968-2970)caG>caC	p.Q990H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q963H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	990					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.Q963H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTGGTCATCTCTGGGGGCCAC	0.622000								Other identified genes with known or suspected DNA repair function					18	118					0	0	0.007413	0	0
SCN3A	6328	broad.mit.edu	37	2	165947272	165947272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:165947272C>T	ENST00000360093.3	-	28	5882	c.5391G>A	c.(5389-5391)tgG>tgA	p.W1797*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1748*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1797*|SCN3A_ENST00000540861.1_Nonsense_Mutation_p.W280*|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1797						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.W1797*(2)|p.W1748*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAAACTTTTCCCAAACCTCAT	0.463000													8	72					0	0	0.003080	0	0
RINL	126432	broad.mit.edu	37	19	39361736	39361736	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361736C>T	ENST00000340740.3	-	7	628	c.241G>A	c.(241-243)Gct>Act	p.A81T	RINL_ENST00000598904.1_Missense_Mutation_p.A81T|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000591812.1_Missense_Mutation_p.A195T	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	81							GTPase activator activity	p.A81T(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGTCTCTGAGCAGCCTCTGGC	0.622000													62	94					0	0	0.003610	0	0
FRS3	10817	broad.mit.edu	37	6	41739006	41739006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41739006G>C	ENST00000373018.3	-	7	1081	c.830C>G	c.(829-831)tCt>tGt	p.S277C	FRS3_ENST00000259748.2_Missense_Mutation_p.S277C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	277					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.S277C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGACACTCAGAAGGGGCCTC	0.647000													5	45					0	0	0.001984	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481259	142481259	+	RNA	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:142481259C>T	ENST00000603901.1	+	0	333					NR_001296.3													p.I111I(1)									TCATGCTGATCAAGCTCTCCA	0.542000													15	24					0	0	0.010504	0	0
TENM3	55714	broad.mit.edu	37	4	183664474	183664474	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:183664474G>A	ENST00000511685.1	+	19	3654	c.3531G>A	c.(3529-3531)gcG>gcA	p.A1177A	TENM3_ENST00000406950.2_Silent_p.A1177A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.A1177A(1)									CCCCAGTGGCGCTAGCTTGTG	0.512000													10	44					0	0	0.008291	0	0
RAD51D	5892	broad.mit.edu	37	17	33428002	33428002	+	Missense_Mutation	SNP	C	C	G	rs147669627		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:33428002C>G	ENST00000345365.6	-	10	1212	c.957G>C	c.(955-957)caG>caC	p.Q319H	RAD51D_ENST00000335858.7_Missense_Mutation_p.Q207H|RAD51D_ENST00000590016.1_Missense_Mutation_p.Q339H|RAD51D_ENST00000394589.4_Missense_Mutation_p.Q319H|RAD51D_ENST00000360276.3_Missense_Mutation_p.Q274H|RAD51D_ENST00000460118.2_Missense_Mutation_p.Q200H|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000590380.1_5'UTR	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	319					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.Q319H(1)|p.Q207H(1)|p.Q339H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGTGGCACTCTGCTCTGAGG	0.527000								Direct reversal of damage					27	46					0	0	0.007291	0	0
NT5E	4907	broad.mit.edu	37	6	86181054	86181054	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:86181054C>T	ENST00000257770.3	+	3	711	c.662C>T	c.(661-663)tCg>tTg	p.S221L	NT5E_ENST00000369651.3_Missense_Mutation_p.S221L|NT5E_ENST00000369646.3_Missense_Mutation_p.S221L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	221					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	p.S221L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CTGGGACATTCGGGTTTTGAA	0.393000													8	37					0	0	0.004482	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814193	106814193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:106814193C>G	ENST00000407775.2	+	8	2133	c.1883C>G	c.(1882-1884)tCt>tGt	p.S628C	ZFPM2_ENST00000520492.1_Missense_Mutation_p.S496C|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S496C|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S359C|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	628					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S628C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCATCAATTCTTCCACTGTC	0.448000													18	33					0	0	0.006122	0	0
TTC39A	22996	broad.mit.edu	37	1	51778567	51778567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:51778567C>G	ENST00000262676.5	-	3	346	c.186G>C	c.(184-186)gaG>gaC	p.E62D	TTC39A_ENST00000371747.3_Missense_Mutation_p.E65D|TTC39A_ENST00000447632.2_Missense_Mutation_p.E66D|TTC39A_ENST00000262675.7_Missense_Mutation_p.E38D|TTC39A_ENST00000413473.2_Missense_Mutation_p.E69D|TTC39A_ENST00000371750.5_Missense_Mutation_p.E66D|TTC39A_ENST00000451380.1_Missense_Mutation_p.E65D			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	66							binding	p.0?(2)|p.E38D(1)|p.E66D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGGCCTGCATCTCCAGGATGG	0.542000													32	136					0	0	0.010818	0	0
HEATR5B	54497	broad.mit.edu	37	2	37284473	37284473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37284473G>A	ENST00000233099.5	-	15	2305	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S737L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	737							binding	p.S737L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTCTTCAATTGATTTATGATC	0.358000													4	36					0	0	0.000602	0	0
CSNK2A1	1457	broad.mit.edu	37	20	469330	469330	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:469330G>C	ENST00000217244.3	-	11	1191	c.816C>G	c.(814-816)atC>atG	p.I272M	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.I272M|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.I136M|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.I272M	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	272	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.I272M(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACCTGCCCAAGATATCATTGA	0.358000													12	51					0	0	0.010729	0	0
UBE2Z	65264	broad.mit.edu	37	17	47004453	47004453	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:47004453C>T	ENST00000360943.5	+	7	1157	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	341					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	p.S233L(1)									GATAGCAGTTCATCTGGGACA	0.537000													4	29					0	0	0.000602	0	0
HLA-E	3133	broad.mit.edu	37	6	30457338	30457338	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:30457338C>G	ENST00000376630.4	+	1	95	c.30C>G	c.(28-30)ctC>ctG	p.L10L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	10				L -> S (in Ref. 1; AAA52655).	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.L10L(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTTTACTCCTCTCGGAGGCCC	0.637000													35	77					0	0	0.004289	0	0
RECQL5	9400	broad.mit.edu	37	17	73625129	73625129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73625129C>T	ENST00000317905.5	-	16	2533	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E765K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	792					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E765K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAACCCCCTCACAGGAGGGG	0.642000								Other identified genes with known or suspected DNA repair function					6	53					0	0	0.001168	0	0
SLC6A13	6540	broad.mit.edu	37	12	331745	331745	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:331745G>A	ENST00000343164.4	-	13	1520	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P398S|SLC6A13_ENST00000539668.1_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	490					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P490S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGATAAGAGGCCATGGCCTG	0.478000													9	11					0	0	0.001368	0	0
TOPORS	10210	broad.mit.edu	37	9	32544192	32544192	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32544192C>G	ENST00000360538.2	-	3	447	c.331G>C	c.(331-333)Gat>Cat	p.D111H	TOPORS_ENST00000379858.1_Missense_Mutation_p.D46H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	111	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.D111H(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GACACATTATCAAATCTATCC	0.413000													14	61					0	0	0.003163	0	0
PQLC2	54896	broad.mit.edu	37	1	19653820	19653820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:19653820G>A	ENST00000375153.3	+	7	1358	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PQLC2_ENST00000400548.2_Missense_Mutation_p.E175K|PQLC2_ENST00000375155.3_Missense_Mutation_p.E240K	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	240	PQ-loop 2.					integral to membrane		p.E240K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAAACCCCGAGGAGGGCCA	0.637000													14	41					0	0	0.003163	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327431	133327431	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:133327431C>G	ENST00000539605.1	-	2	7143	c.459G>C	c.(457-459)agG>agC	p.R153S	ANKLE2_ENST00000357997.5_Missense_Mutation_p.R215S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R215S			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	215						cytoplasm|integral to membrane|nuclear envelope		p.R215S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AAACATAGATCCTTTCTGGGT	0.423000													8	74					0	0	0.004482	0	0
LIFR	3977	broad.mit.edu	37	5	38506728	38506728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:38506728G>A	ENST00000263409.4	-	8	1160	c.998C>T	c.(997-999)cCa>cTa	p.P333L	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.P333L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	333	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.P333L(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGGAGTATCTGGTGGATCTAA	0.353000			T	PLAG1	salivary adenoma								9	17					0	0	0.008291	0	0
ERGIC2	51290	broad.mit.edu	37	12	29498381	29498381	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:29498381C>T	ENST00000360150.4	-	11	895	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	274					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		p.E274K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	CTTACCCTTTCTGTCACAGAA	0.323000													19	114					0	0	0.010504	0	0
CD163	9332	broad.mit.edu	37	12	7647847	7647847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:7647847C>T	ENST00000359156.4	-	6	1452	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	CD163_ENST00000432237.2_Missense_Mutation_p.G417E|CD163_ENST00000541972.1_Missense_Mutation_p.G405E|CD163_ENST00000396620.3_Missense_Mutation_p.G417E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	417	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G417E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGTGCAGATCCACATCCCAG	0.468000													13	96					0	0	0.002450	0	0
ROR2	4920	broad.mit.edu	37	9	94486310	94486310	+	Silent	SNP	G	G	A	rs146432734		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94486310G>A	ENST00000375708.3	-	9	2664	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	822	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.N822N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGGTAGCCGTTGACGGGGA	0.662000													38	32					0	0	0.003610	0	0
NBPF12	149013	broad.mit.edu	37	1	146397376	146397376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:146397376G>C	ENST00000442909.2	+	6	1029	c.193G>C	c.(193-195)Gac>Cac	p.D65H	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.D65H					neuroblastoma breakpoint family, member 12									p.D65H(2)		ovary(2)	2						AGAGTGTAAAGACCTCATAAA	0.522000													27	172					0	0	0.002836	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443781	81443781	+	RNA	SNP	A	A	T	rs143569743	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:81443781A>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GACCACAAAGACGAGGAGGAG	0.622000													3	15					0	0	0.000602	0	0
APOA5	116519	broad.mit.edu	37	11	116661323	116661323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:116661323C>G	ENST00000542499.1	-	4	694	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	APOA5_ENST00000227665.4_Missense_Mutation_p.E208Q	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	208					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.E208Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGGTGCAGCTCCTGCACGTGG	0.706000													9	14					0	0	0.006214	0	0
KPNA2	3838	broad.mit.edu	37	17	66042657	66042657	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042657C>G	ENST00000537025.2	+	11	2155	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.S512C			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	512					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	p.S512C(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAACTACCTCTGAAGGCTAC	0.373000													9	71					0	0	0.008291	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844129	93844129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93844129G>A	ENST00000315765.9	+	18	3114	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1036	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.E1040K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAAACCATTGAACTGTTTGC	0.438000													9	14					0	0	0.008291	0	0
MYH9	4627	broad.mit.edu	37	22	36689431	36689431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:36689431C>T	ENST00000216181.5	-	30	4269	c.4039G>A	c.(4039-4041)Gag>Aag	p.E1347K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1347					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E1347K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTCCTCCTCCTCCAGCTGC	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				13	43					0	0	0.001368	0	0
CCDC86	79080	broad.mit.edu	37	11	60617418	60617418	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:60617418G>T	ENST00000227520.5	+	3	948	c.894G>T	c.(892-894)aaG>aaT	p.K298N	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.K42N	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	298					interspecies interaction between organisms	nucleus		p.K298N(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TCCAGGAGAAGAAACAGCGCC	0.607000													5	18					0.00198382	0.00202784	0.001984	1	0
DDX39B	7919	broad.mit.edu	37	6	31498646	31498646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:31498646C>T	ENST00000417556.2	-	11	1855	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	DDX39B_ENST00000458640.1_Missense_Mutation_p.E394K|DDX39B_ENST00000396172.1_Missense_Mutation_p.E394K|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.M401I|DDX39B_ENST00000415382.2_Missense_Mutation_p.E316K			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	394	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	p.E394K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCATCATTCTCATCGGACACA	0.512000													11	48					0	0	0.001368	0	0
PRDM5	11107	broad.mit.edu	37	4	121738027	121738027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:121738027G>A	ENST00000264808.3	-	6	943	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	235					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.Q235*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGAGCACTGAAAACTTCGC	0.378000													31	165					0	0	0.004289	0	0
UGGT1	56886	broad.mit.edu	37	2	128918082	128918082	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128918082G>A	ENST00000375990.3	+	24	2942	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	UGGT1_ENST00000259253.6_Missense_Mutation_p.D871N			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	871					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.D871N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCCAAAATGGATTTCATTTT	0.403000													5	40					0	0	0.001984	0	0
RPL4	6124	broad.mit.edu	37	15	66793735	66793735	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66793735G>C	ENST00000307961.6	-	6	746	c.654C>G	c.(652-654)atC>atG	p.I218M	RPL4_ENST00000568588.1_Missense_Mutation_p.I124M	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	218					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.I218M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TGAAGGCCTTGATGATACCAT	0.443000													26	89					0	0	0.005443	0	0
PSMD3	5709	broad.mit.edu	37	17	38140722	38140722	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38140722C>T	ENST00000264639.4	+	2	570	c.396C>T	c.(394-396)ctC>ctT	p.L132L	PSMD3_ENST00000541736.1_5'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	p.L132L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACTTTTTGCTCCCCTTCCTGG	0.517000													8	59					0	0	0.008291	0	0
ITGAV	3685	broad.mit.edu	37	2	187455093	187455093	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187455093C>T	ENST00000261023.3	+	1	302	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	ITGAV_ENST00000374907.3_Missense_Mutation_p.R10C	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	10					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.R10C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GCGACGGCTGCGCCTCGGTCC	0.716000													5	21					0	0	0.000602	0	0
TRIM37	4591	broad.mit.edu	37	17	57089713	57089713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:57089713C>A	ENST00000376149.3	-	22	3114	c.2305G>T	c.(2305-2307)Gga>Tga	p.G769*	TRIM37_ENST00000393066.3_Nonsense_Mutation_p.G891*|TRIM37_ENST00000393065.2_Nonsense_Mutation_p.G857*|TRIM37_ENST00000262294.7_Nonsense_Mutation_p.G891*			O94972	TRI37_HUMAN	tripartite motif containing 37	891						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.G891*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGAAGCTCCTTCAGGTAGT	0.443000									Mulibrey Nanism				13	75					3.45872e-05	3.58317e-05	0.004007	1	0
HAAO	23498	broad.mit.edu	37	2	42996988	42996988	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:42996988G>C	ENST00000294973.6	-	7	550	c.495C>G	c.(493-495)ctC>ctG	p.L165L		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	165	Linker (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	p.L165L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GTGGCTCCTTGAGCAGCTGGT	0.637000													16	75					0	0	0.004990	0	0
PADI2	11240	broad.mit.edu	37	1	17413062	17413062	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:17413062G>C	ENST00000375486.4	-	7	851	c.788C>G	c.(787-789)tCa>tGa	p.S263*	PADI2_ENST00000444885.2_Missense_Mutation_p.Q182E|PADI2_ENST00000375481.1_Nonsense_Mutation_p.S263*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	263					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.S263*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GACCAGGCCTGAGAAGCCCTC	0.652000													6	33					0	0	0.001984	0	0
FIBP	9158	broad.mit.edu	37	11	65651873	65651873	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:65651873C>T	ENST00000338369.2	-	9	1127	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	FIBP_ENST00000357519.4_Missense_Mutation_p.D332N|FIBP_ENST00000533045.1_Missense_Mutation_p.R324Q	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	339					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	p.D339N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CGGAAGCCATCGAGGGAGTGG	0.627000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0.000602	0	0
ASTN2	23245	broad.mit.edu	37	9	119770438	119770438	+	Silent	SNP	T	T	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:119770438T>G	ENST00000313400.4	-	7	1624	c.1524A>C	c.(1522-1524)ccA>ccC	p.P508P	ASTN2_ENST00000373996.3_Silent_p.P508P|ASTN2_ENST00000361209.2_Silent_p.P457P|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	508						integral to membrane		p.P457P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCTCACCCATGGGGAGGTGG	0.577000													3	55					0	0	0.004672	0	0
FGA	2243	broad.mit.edu	37	4	155507837	155507837	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:155507837C>G	ENST00000302053.3	-	5	822	c.744G>C	c.(742-744)tgG>tgC	p.W248C	FGA_ENST00000403106.3_Missense_Mutation_p.W248C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	248					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.W248C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTAATGCCTTCCACTCTGGGG	0.473000													10	77					0	0	0.006214	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916075	149916075	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149916075C>T	ENST00000369135.4	-	12	2507	c.2213G>A	c.(2212-2214)cGa>cAa	p.R738Q		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.R738Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGTAGGGTCGCCCAGGAGG	0.642000													22	58					0	0	0.002780	0	0
DNAH3	55567	broad.mit.edu	37	16	21132082	21132082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21132082C>T	ENST00000261383.3	-	11	1677	c.1678G>A	c.(1678-1680)Gcg>Acg	p.A560T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A560T|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	560	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A560T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGGCAGCCGCGTGCATGCTG	0.507000													5	25					0	0	0.000602	0	0
MERTK	10461	broad.mit.edu	37	2	112740460	112740460	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740460G>A	ENST00000295408.4	+	8	1443	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MERTK_ENST00000409780.1_Missense_Mutation_p.E220K|MERTK_ENST00000421804.2_Missense_Mutation_p.E396K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	396	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E396K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTTCTGAATGAATCTAGTGA	0.453000													34	116					0	0	0.003271	0	0
MIER3	166968	broad.mit.edu	37	5	56219227	56219227	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:56219227A>T	ENST00000381226.3	-	13	1411	c.1396T>A	c.(1396-1398)Tat>Aat	p.Y466N	MIER3_ENST00000381213.3_Missense_Mutation_p.Y460N|MIER3_ENST00000409421.1_Missense_Mutation_p.Y398N|SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381199.3_Missense_Mutation_p.Y461N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y460N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCGAGTGATAAAATCCAGTC	0.423000													19	37					0	0	0.010504	0	0
XPR1	9213	broad.mit.edu	37	1	180775291	180775291	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:180775291G>C	ENST00000367590.4	+	5	739	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	XPR1_ENST00000367589.3_Missense_Mutation_p.E181Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	181						integral to plasma membrane	G-protein coupled receptor activity	p.E181Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCTCACGTAGAGGTGGCCCC	0.398000													9	71					0	0	0.004482	0	0
TRIM28	10155	broad.mit.edu	37	19	59060782	59060782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:59060782G>A	ENST00000253024.5	+	13	2036	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	TRIM28_ENST00000341753.6_Missense_Mutation_p.E501K	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	583					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	p.E583K(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTCTTGCGGAGGGTCCTGG	0.652000													25	159					0	0	0.003954	0	0
ACTN4	81	broad.mit.edu	37	19	39219769	39219769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39219769C>T	ENST00000252699.2	+	20	2628	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	ACTN4_ENST00000424234.2_Missense_Mutation_p.S461F|ACTN4_ENST00000390009.3_Missense_Mutation_p.S632F|ACTN4_ENST00000497637.1_3'UTR	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	851					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.S851F(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCATCGCTTCCTTCAAGGTC	0.637000													10	89					0	0	0.010729	0	0
PRPF4B	8899	broad.mit.edu	37	6	4049306	4049306	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:4049306C>G	ENST00000337659.6	+	8	2092	c.1992C>G	c.(1990-1992)ctC>ctG	p.L664L	PRPF4B_ENST00000538861.1_Silent_p.L650L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	664						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.L664L(1)|p.L153L(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATCCCAACCTCAGAGATAACT	0.408000													10	39					0	0	0.006214	0	0
ZNF681	148213	broad.mit.edu	37	19	23926476	23926476	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926476C>T	ENST00000402377.3	-	4	2017	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ZNF681_ENST00000395385.3_Missense_Mutation_p.D557N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D557N(1)|p.D626N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTCAAAATCACTGTTACAT	0.308000													7	8					0	0	0.003080	0	0
WDR49	151790	broad.mit.edu	37	3	167245664	167245664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167245664C>T	ENST00000308378.3	-	11	1797	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D323N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498								p.D498N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATACTGCAGTCTGCAGAGGAG	0.413000													5	25					0	0	0.000602	0	0
LRRN4	164312	broad.mit.edu	37	20	6022478	6022478	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:6022478G>C	ENST00000378858.4	-	5	1637	c.1413C>G	c.(1411-1413)atC>atG	p.I471M		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	471						integral to membrane		p.I471M(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGCAGCTGAGATATCAGGCT	0.647000													17	74					0	0	0.007413	0	0
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201468754C>T	ENST00000374700.2	+	8	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	201					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383000													4	50					0	0	0.000602	0	0
POLQ	10721	broad.mit.edu	37	3	121206874	121206874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121206874G>C	ENST00000264233.5	-	16	5032	c.4904C>G	c.(4903-4905)tCa>tGa	p.S1635*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1635					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.S1770*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAGATCAAATGATGCCCCTGA	0.373000								DNA polymerases (catalytic subunits)					63	166					0	0	0.003610	0	0
PPP3CB	5532	broad.mit.edu	37	10	75214185	75214185	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:75214185C>T	ENST00000360663.5	-	10	1282	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	PPP3CB_ENST00000342558.3_Missense_Mutation_p.E391K|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E391K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E391K|PPP3CB_ENST00000544628.1_Missense_Mutation_p.E19K|PPP3CB_ENST00000394822.2_Missense_Mutation_p.E409K|PPP3CB_ENST00000545874.1_Missense_Mutation_p.E305K			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	391								p.E54K(1)|p.E391K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AACTGGTCTTCACCTTCAGTC	0.328000													11	55					0	0	0.008291	0	0
ZMYND19	116225	broad.mit.edu	37	9	140477494	140477494	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:140477494C>T	ENST00000298585.2	-	5	707	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	161	Poly-Glu.					Golgi apparatus|plasma membrane	zinc ion binding	p.E161K(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAAGAGTTCTCCTCCTCTTCC	0.527000													27	126					0	0	0.005443	0	0
MMP14	4323	broad.mit.edu	37	14	23312531	23312531	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23312531G>T	ENST00000311852.6	+	5	1015	c.754G>T	c.(754-756)Gac>Tac	p.D252Y	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	252						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D252Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCATTCCAGTGACCCCTCGGC	0.582000													14	40					3.45872e-05	3.58317e-05	0.004007	1	0
MERTK	10461	broad.mit.edu	37	2	112740501	112740501	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740501G>A	ENST00000295408.4	+	8	1484	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	MERTK_ENST00000409780.1_Silent_p.P233P|MERTK_ENST00000421804.2_Silent_p.P409P			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	409	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P409P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAAGCCTCCGACTAAGCAGC	0.463000													20	84					0	0	0.006320	0	0
PDCD10	11235	broad.mit.edu	37	3	167414891	167414891	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167414891G>A	ENST00000392750.2	-	5	591	c.174C>T	c.(172-174)ctC>ctT	p.L58L	PDCD10_ENST00000473645.2_Silent_p.L58L|PDCD10_ENST00000497056.2_Silent_p.L58L|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000470131.1_Silent_p.L58L|PDCD10_ENST00000461494.1_Silent_p.L58L|PDCD10_ENST00000471885.1_Silent_p.L58L|PDCD10_ENST00000487947.2_Silent_p.L58L	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	58					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	p.L58L(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TGTCTTGTGTGAGACCTGGAT	0.333000													10	42					0	0	0.006214	0	0
FBXO27	126433	broad.mit.edu	37	19	39521863	39521863	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39521863G>A	ENST00000292853.4	-	3	581	c.462C>T	c.(460-462)ttC>ttT	p.F154F	FBXO27_ENST00000509137.2_Silent_p.F154F|FBXO27_ENST00000600828.1_Silent_p.F153F|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	154	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.F154F(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGAAGTCACGAAGCACGTCT	0.582000													19	140					0	0	0.010504	0	0
FHOD1	29109	broad.mit.edu	37	16	67271177	67271177	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67271177C>T	ENST00000258201.4	-	9	1205	c.958G>A	c.(958-960)Gac>Aac	p.D320N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	320	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.D320N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGGTCGACGTCAGTGCCCGCA	0.657000													12	37					0	0	0.001368	0	0
DOCK6	57572	broad.mit.edu	37	19	11343960	11343960	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:11343960C>G	ENST00000294618.7	-	22	2648	c.2637G>C	c.(2635-2637)aaG>aaC	p.K879N	DOCK6_ENST00000319867.7_Missense_Mutation_p.K183N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	879					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.K879N(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCTGATGCTCTTGGAACGCG	0.657000													12	23					0	0	0.003163	0	0
ZNF567	163081	broad.mit.edu	37	19	37211048	37211048	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:37211048G>A	ENST00000585696.1	+	3	2559	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Silent_p.E474E|ZNF567_ENST00000588311.1_Silent_p.E443E|ZNF567_ENST00000392163.2_Silent_p.E443E|ZNF567_ENST00000360729.4_Silent_p.E443E			Q8N184	ZN567_HUMAN	zinc finger protein 567	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E443E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATACAGGGGAGAAATCTTATG	0.418000													36	51					0	0	0.004878	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860565	183860565	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:183860565A>C	ENST00000273783.3	+	11	1668		c.e11-1		EIF2B5_ENST00000444495.1_Splice_Site	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa						astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGCTTCTCAGGACTCAAGA	0.458000													6	13					0	0	0.001168	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114205095	114205095	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:114205095A>T	ENST00000369405.3	-	2	523	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C34S	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	34						integral to membrane	acyltransferase activity|zinc ion binding	p.C34S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGGTAGAACATATTGCTATA	0.398000													11	32					0	0	0.010729	0	0
TP53INP2	58476	broad.mit.edu	37	20	33296631	33296631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33296631G>C	ENST00000374810.3	+	3	477	c.88G>C	c.(88-90)Gat>Cat	p.D30H	TP53INP2_ENST00000374809.2_Missense_Mutation_p.D30H|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	30						nucleus		p.D30H(1)		endometrium(1)|urinary_tract(1)	2						GTCGGAGGAGGATGAAGTGGA	0.652000													4	37					0	0	0.009096	0	0
TIAM1	7074	broad.mit.edu	37	21	32519265	32519265	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:32519265G>C	ENST00000286827.3	-	21	3894	c.3423C>G	c.(3421-3423)ctC>ctG	p.L1141L	TIAM1_ENST00000541036.1_Silent_p.L1081L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1141	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L1141L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGCACTGTAGAGCTTGAAGC	0.517000													7	28					0	0	0.004482	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357141	37357141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:37357141C>G	ENST00000217420.1	+	2	1700	c.1437C>G	c.(1435-1437)cgC>cgG	p.R479R		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	479					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.R479R(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCACCTGCGCCTGCTCTGGC	0.642000													4	52					0	0	0.009096	0	0
ABLIM1	3983	broad.mit.edu	37	10	116361688	116361688	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:116361688C>G	ENST00000369252.4	-	2	398	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000277895.5_Missense_Mutation_p.E93Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E33Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	93					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	p.E93Q(1)|p.E33Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACAGGCTTCTCTGATGGGTGG	0.493000													5	39					0	0	0.001168	0	0
ANP32E	81611	broad.mit.edu	37	1	150193030	150193030	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150193030C>T	ENST00000314136.8	-	7	1139	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	ANP32E_ENST00000369114.5_Missense_Mutation_p.R138Q|ANP32E_ENST00000369115.2_Missense_Mutation_p.R125Q|ANP32E_ENST00000369119.3_Missense_Mutation_p.R209Q|ANP32E_ENST00000436748.2_Missense_Mutation_p.R216Q|ANP32E_ENST00000369116.4_Missense_Mutation_p.R125Q|ANP32E_ENST00000533654.1_3'UTR	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	257	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	p.R257Q(1)		breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCAGCATCTCGTTTCCTCTT	0.383000													38	317					0	0	0.008740	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86893235	86893235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:86893235C>T	ENST00000395184.1	+	6	1112	c.646C>T	c.(646-648)Cga>Tga	p.R216*	ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R121*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R123*|ARHGAP24_ENST00000503995.1_Nonsense_Mutation_p.R216*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	216	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.R216*(1)|p.R123*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCTGTACCTCCGAGAACTTCC	0.418000													11	43					0	0	0.001368	0	0
DOT1L	84444	broad.mit.edu	37	19	2210632	2210632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210632G>T	ENST00000398665.3	+	14	1165	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	377						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E377*(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGTGCTGAGGAAGAGAA	0.632000													19	148					8.34094e-07	8.73271e-07	0.008871	1	0
CKAP2	26586	broad.mit.edu	37	13	53036693	53036693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:53036693G>C	ENST00000378037.5	+	5	1389	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F	CKAP2_ENST00000378034.3_Missense_Mutation_p.L432F|CKAP2_ENST00000490903.1_Missense_Mutation_p.L384F|CKAP2_ENST00000258607.5_Missense_Mutation_p.L432F	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	433					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.L432F(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GCCTGAACTTGATTAATGAGG	0.299000													4	48					0	0	0.009096	0	0
OR4E2	26686	broad.mit.edu	37	14	22133602	22133602	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:22133602C>T	ENST00000408935.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F102F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACAGCTCTTCTTCCTACATC	0.463000													81	130					0	0	0.003610	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666507	50666507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:50666507C>T	ENST00000371821.1	+	7	1130	c.815C>T	c.(814-816)tCt>tTt	p.S272F	ELAVL4_ENST00000371823.4_Missense_Mutation_p.S267F|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371819.1_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	267					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.S267F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTCCCCCCTTCTGCTTGTCCC	0.522000													16	60					0	0	0.004990	0	0
BAX	581	broad.mit.edu	37	19	49458852	49458852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49458852C>T	ENST00000293288.8	+	2	82	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	BAX_ENST00000345358.7_Nonsense_Mutation_p.Q28*|BAX_ENST00000354470.3_Nonsense_Mutation_p.Q28*|BAX_ENST00000391871.3_Intron|BAX_ENST00000415969.2_Nonsense_Mutation_p.Q28*|BAX_ENST00000539787.1_Nonsense_Mutation_p.Q28*	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	28					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.Q28*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CCTTTTGCTTCAGGGGTGAGT	0.527000													52	59					0	0	0.003610	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129403	68129403	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68129403C>T	ENST00000585558.1	+	4	1668	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	KCNJ16_ENST00000283936.1_Missense_Mutation_p.S392F|KCNJ16_ENST00000586462.1_Missense_Mutation_p.S431F|KCNJ16_ENST00000589377.1_Missense_Mutation_p.S392F|KCNJ16_ENST00000392670.1_Missense_Mutation_p.S392F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S392F			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	392					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S392F(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCACCACTTCCGCCACACAT	0.458000													5	55					0	0	0.001168	0	0
DMTN	2039	broad.mit.edu	37	8	21926966	21926966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:21926966C>T	ENST00000358242.3	+	6	824	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	DMTN_ENST00000381470.3_Nonsense_Mutation_p.Q111*|DMTN_ENST00000519907.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000517600.1_Nonsense_Mutation_p.Q71*|DMTN_ENST00000443491.2_Nonsense_Mutation_p.Q86*|DMTN_ENST00000523266.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000432128.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000415253.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000265800.5_Nonsense_Mutation_p.Q111*|DMTN_ENST00000523782.2_Nonsense_Mutation_p.Q86*					dematin actin binding protein									p.Q111*(1)									AATCATCTCTCAGGCCTCGGC	0.632000													14	22					0	0	0.002450	0	0
TRPC4	7223	broad.mit.edu	37	13	38225536	38225536	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:38225536C>T	ENST00000379705.3	-	8	2802	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	TRPC4_ENST00000358477.2_Missense_Mutation_p.E649K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E649K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E476K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E649K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E649K|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E476K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	649	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.E649K(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTACCTCCTTCTTCAAAATAA	0.428000													18	49					0	0	0.008871	0	0
NUP155	9631	broad.mit.edu	37	5	37371030	37371030	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371030G>A	ENST00000231498.3	-	1	253	c.50C>T	c.(49-51)gCa>gTa	p.A17V	NUP155_ENST00000513532.1_Missense_Mutation_p.A17V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	17					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.A17V(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCAGGGCTGCGGCAGATGT	0.557000													11	55					0	0	0.010729	0	0
TMEM2	23670	broad.mit.edu	37	9	74319522	74319522	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:74319522G>C	ENST00000377044.4	-	18	3722	c.3183C>G	c.(3181-3183)gtC>gtG	p.V1061V	TMEM2_ENST00000377066.5_Silent_p.V998V|TMEM2_ENST00000396272.3_Silent_p.V54V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061						integral to membrane		p.V1061V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGAAGTTGACGAGGTATA	0.433000													27	38					0	0	0.008361	0	0
MSH3	4437	broad.mit.edu	37	5	80024675	80024675	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:80024675C>G	ENST00000265081.6	+	10	1539	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	487					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.Q478E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTAGGTTCTCAAATTATTTC	0.279000								Mismatch excision repair (MMR)					15	53					0	0	0.004990	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510338	49510338	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49510338C>T	ENST00000413176.2	+	5	1342	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RUVBL2_ENST00000601968.1_Missense_Mutation_p.S65F|RUVBL2_ENST00000595090.1_Missense_Mutation_p.S110F			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	110					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	p.S110F(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GAAATCTTCTCCCTGGAGATG	0.657000													15	71					0	0	0.007413	0	0
CCDC173	129881	broad.mit.edu	37	2	170506887	170506887	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170506887T>C	ENST00000447353.1	-	7	1209	c.1104A>G	c.(1102-1104)gaA>gaG	p.E368E		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.E362E(1)									CTTTGTTTTTTTCATCTTTTT	0.308000													2	16					0	0	0.004672	0	0
BAX	581	broad.mit.edu	37	19	49464256	49464256	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49464256C>T	ENST00000293288.8	+	5	559	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	BAX_ENST00000345358.7_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000415969.2_Intron|BAX_ENST00000539787.1_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.L187L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CGCCACTCCTCTGGGACCCTG	0.627000													28	37					0	0	0.009535	0	0
ELF1	1997	broad.mit.edu	37	13	41507794	41507794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:41507794G>A	ENST00000239882.3	-	9	1941	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q519*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	543					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q543*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCAACCAGCTGTGAACTGCGA	0.453000													10	99					0	0	0.008291	0	0
IGSF10	285313	broad.mit.edu	37	3	151164002	151164002	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151164002G>A	ENST00000282466.3	-	4	3766	c.3767C>T	c.(3766-3768)tCa>tTa	p.S1256L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1256					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1256L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACACTTGTTGAAAGTGTGGT	0.418000													23	123					0	0	0.003330	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91372604	91372604	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:91372604C>G	ENST00000261991.3	-	8	1019	c.846G>C	c.(844-846)atG>atC	p.M282I	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M282I|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M203I|RPS6KA5_ENST00000556304.1_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	282	Protein kinase 1.				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	p.M282I(2)		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)		CTAAAGCACTCATTTCTTGGG	0.383000													4	55					0	0	0.009096	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076837	1076837	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:1076837G>A	ENST00000264930.5	-	13	1763	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	574					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.L574L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGCTGTCCAGAGAGGCGATG	0.667000													6	21					0	0	0.001168	0	0
CENPJ	55835	broad.mit.edu	37	13	25457361	25457361	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:25457361C>G	ENST00000381884.4	-	17	4156	c.3971G>C	c.(3970-3972)aGa>aCa	p.R1324T	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1324					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	p.R1324T(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCCTTAACTCTTATCCGACC	0.428000													3	150					0	0	0.004672	0	0
SP100	6672	broad.mit.edu	37	2	231407626	231407626	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:231407626C>G	ENST00000340126.4	+	29	2654	c.2623C>G	c.(2623-2625)Cag>Gag	p.Q875E	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.Q875E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTTGCAATTCAGGAAACAAG	0.373000													8	56					0	0	0.003080	0	0
TXNRD1	7296	broad.mit.edu	37	12	104725378	104725378	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:104725378G>A	ENST00000526691.1	+	12	1771	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	TXNRD1_ENST00000529546.1_Missense_Mutation_p.E349K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537K|TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431K	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.E537Q(2)|p.E387Q(2)|p.E537K(1)|p.E387K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TGGCCTTTCTGAGGAGAAAGC	0.353000													5	23					0	0	0.003080	0	0
FN3K	64122	broad.mit.edu	37	17	80708353	80708353	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80708353C>G	ENST00000300784.7	+	6	714	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	218					fructoselysine metabolic process		fructosamine-3-kinase activity	p.L218V(1)		central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCACGGGGATCTCTGGTCGGG	0.567000													16	118					0	0	0.003163	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892402	2892402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:2892402G>C	ENST00000254528.3	+	4	2436	c.2277G>C	c.(2275-2277)aaG>aaC	p.K759N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	759					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.K759N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTGGCCTGAAGAATTCAGTCC	0.468000													14	48					0	0	0.001855	0	0
VCAN	1462	broad.mit.edu	37	5	82832829	82832829	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:82832829G>A	ENST00000265077.3	+	8	4572	c.4007G>A	c.(4006-4008)cGa>cAa	p.R1336Q	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.R349Q|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1336	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1336L(1)|p.R1336Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTTTCAGGTCGAATGAGTGAT	0.368000													8	7					0	0	0.003080	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797578	34797578	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34797578A>G	ENST00000338074.2	+	15	1998	c.1837A>G	c.(1837-1839)Acg>Gcg	p.T613A	EPB41L1_ENST00000373950.2_Missense_Mutation_p.T504A|EPB41L1_ENST00000373941.1_Missense_Mutation_p.T613A|EPB41L1_ENST00000202028.5_Missense_Mutation_p.T539A|EPB41L1_ENST00000441639.1_Missense_Mutation_p.T539A|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000479336.1_3'UTR	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	613					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.T613A(1)|p.T902A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGTCAGCTCTACGTCTAGCCT	0.607000													20	24					0	0	0.010504	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390060	52390060	+	RNA	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:52390060G>C	ENST00000443374.2	+	0	1249																											ATGATATCATGAACATTAGTC	0.428000													4	23					0	0	0.000602	0	0
ILDR1	286676	broad.mit.edu	37	3	121725918	121725918	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121725918G>A	ENST00000273691.3	-	2	254	c.149C>T	c.(148-150)tCt>tTt	p.S50F	ILDR1_ENST00000344209.5_Missense_Mutation_p.S50F|ILDR1_ENST00000393631.1_Missense_Mutation_p.S50F|ILDR1_ENST00000462014.1_Missense_Mutation_p.S62F|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	50	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity	p.S50F(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GAGCTGGGCAGAGGTGGTGTA	0.527000													9	58					0	0	0.008291	0	0
PROCA1	147011	broad.mit.edu	37	17	27030605	27030605	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:27030605G>T	ENST00000301039.2	-	4	1175	c.982C>A	c.(982-984)Ccc>Acc	p.P328T	PROCA1_ENST00000439862.3_Missense_Mutation_p.P330T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	356					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.P328T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GATCCTGGGGGAGATTTTCTC	0.547000													22	127					1.55795e-14	1.6639e-14	0.012319	1	0
MBTD1	54799	broad.mit.edu	37	17	49280217	49280217	+	Missense_Mutation	SNP	C	C	T	rs147550029		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:49280217C>T	ENST00000586178.1	-	10	1251	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	MBTD1_ENST00000415868.1_Missense_Mutation_p.R303Q|MBTD1_ENST00000376381.2_Missense_Mutation_p.R303Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	303					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R139Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CACTGCTACTCGTGTTCGACA	0.408000													37	185					0	0	0.005524	0	0
TMED7	51014	broad.mit.edu	37	5	114951919	114951919	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:114951919C>T	ENST00000456936.3	-	3	1042	c.662G>A	c.(661-663)cGt>cAt	p.R221H	AC010226.4_ENST00000515570.1_RNA|TICAM2_ENST00000408996.4_Intron|AC010226.4_ENST00000508517.1_RNA|TMED7-TICAM2_ENST00000333314.3_Intron|TMED7-TICAM2_ENST00000282382.4_Intron|TMED7_ENST00000503010.1_5'UTR	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7									p.R221H(1)		breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TGATCCAACACGAGTTGTGGT	0.378000													12	24					0	0	0.001368	0	0
PDP2	57546	broad.mit.edu	37	16	66919264	66919264	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:66919264G>A	ENST00000311765.2	+	2	1411	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	359					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.L359L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTAAAGAGTTGCAGCGCAGCA	0.557000													4	54					0	0	0.009096	0	0
CXCL13	10563	broad.mit.edu	37	4	78527049	78527049	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:78527049C>T	ENST00000286758.4	+	2	108	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	10					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	p.L10L(1)		large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CTCTGCTTCTCATGCTGCTGG	0.443000													8	48					0	0	0.004482	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29935671	29935671	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:29935671T>C	ENST00000378993.1	+	7	1542	c.869T>C	c.(868-870)aTt>aCt	p.I290T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I290T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	290	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.I290T(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAAAAATTTATTGAAGATCTG	0.363000													19	14					0	0	0.012319	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536540	130536540	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130536540G>A	ENST00000314830.8	-	2	357	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	82					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.R82C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGCTGGGGCGAGGCATGGTG	0.637000													16	29					0	0	0.004007	0	0
LNPEP	4012	broad.mit.edu	37	5	96349455	96349455	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:96349455C>T	ENST00000231368.5	+	12	2831	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	LNPEP_ENST00000395770.3_Silent_p.I699I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	713					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.I713I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAGCACTAATCCATCAGTTGA	0.358000													11	65					0	0	0.010729	0	0
FBXO48	554251	broad.mit.edu	37	2	68691345	68691345	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:68691345C>G	ENST00000377957.3	-	4	871	c.464G>C	c.(463-465)aGa>aCa	p.R155T		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48									p.R155T(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCCCCTTATCTTTCCAGTTC	0.358000													37	185					0	0	0.006999	0	0
TBC1D4	9882	broad.mit.edu	37	13	75869130	75869130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:75869130G>C	ENST00000377636.3	-	18	3522	c.3176C>G	c.(3175-3177)tCc>tGc	p.S1059C	TBC1D4_ENST00000425511.1_Missense_Mutation_p.S223C|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1051C|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S996C|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1059	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.S1059C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGGAGCCTGGACAGCTGGTA	0.363000													13	66					0	0	0.002450	0	0
WDFY3	23001	broad.mit.edu	37	4	85662946	85662946	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:85662946G>C	ENST00000322366.6	-	38	6609	c.6202C>G	c.(6202-6204)Ctt>Gtt	p.L2068V	WDFY3_ENST00000295888.4_Missense_Mutation_p.L2068V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2068						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.L2068V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATCTATAAGAAGTTTAGAT	0.368000													11	66					0	0	0.008291	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325046	52325046	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52325046G>A	ENST00000354773.4	+	3	544	c.448G>A	c.(448-450)Gat>Aat	p.D150N	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000471180.1_Missense_Mutation_p.D23N|GLYCTK_ENST00000436784.2_Missense_Mutation_p.D150N|GLYCTK_ENST00000473032.1_Missense_Mutation_p.D150N|GLYCTK_ENST00000477382.1_Missense_Mutation_p.D150N|GLYCTK_ENST00000305690.8_Missense_Mutation_p.D150N|GLYCTK_ENST00000461183.1_Missense_Mutation_p.D66N	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	150					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.D150N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCCGGACCGCGATGCGCTGCG	0.617000													6	42					0	0	0.001168	0	0
CDC6	990	broad.mit.edu	37	17	38447912	38447912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38447912G>C	ENST00000209728.4	+	4	1123	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	218					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	p.D218H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GATTCTGCAAGACCTCAAGGT	0.388000													20	38					0	0	0.010504	0	0
EAF1	85403	broad.mit.edu	37	3	15475961	15475961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:15475961C>T	ENST00000396842.2	+	4	867	c.442C>T	c.(442-444)Cca>Tca	p.P148S	EAF1_ENST00000432764.2_Missense_Mutation_p.P47S	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	148	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	p.P148S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						ATTCAGAGCTCCAACGAAGCC	0.522000													38	244					0	0	0.004878	0	0
BANK1	55024	broad.mit.edu	37	4	102981490	102981490	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:102981490C>G	ENST00000504592.1	+	16	2465	c.2047C>G	c.(2047-2049)Ctg>Gtg	p.L683V	BANK1_ENST00000508653.1_Missense_Mutation_p.L565V|BANK1_ENST00000444316.2_Missense_Mutation_p.L668V|BANK1_ENST00000322953.4_Missense_Mutation_p.L698V|BANK1_ENST00000428908.1_Missense_Mutation_p.L565V			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	698					B cell activation			p.L698V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGATGAAGCTCTGGAGAAATT	0.453000													4	63					0	0	0.000602	0	0
UNKL	64718	broad.mit.edu	37	16	1416391	1416391	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1416391G>A	ENST00000389221.4	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	UNKL_ENST00000402641.2_Silent_p.I183I|UNKL_ENST00000403703.1_Silent_p.I183I|UNKL_ENST00000508903.2_Silent_p.I684I|UNKL_ENST00000397464.1_Silent_p.I133I|UNKL_ENST00000391893.2_Silent_p.I180I|UNKL_ENST00000248104.7_Silent_p.I180I	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	631						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	p.I183I(1)|p.I631I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGAGCTGGAAGATCACCTGCA	0.697000													9	8					0	0	0.004482	0	0
DNAJC15	29103	broad.mit.edu	37	13	43643082	43643082	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:43643082G>A	ENST00000379221.2	+	3	601	c.177G>A	c.(175-177)cgG>cgA	p.R59R	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	59						integral to membrane	heat shock protein binding	p.R59R(4)		endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		ACGCATTTCGGATCTGGAAAC	0.333000													3	35					0	0	0.009096	0	0
MAP3K5	4217	broad.mit.edu	37	6	136977457	136977457	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:136977457C>G	ENST00000359015.4	-	10	2028	c.1668G>C	c.(1666-1668)gtG>gtC	p.V556V	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	556					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.V556V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAACCTAACCACAGTAACAT	0.408000													9	78					0	0	0.006214	0	0
CNTN3	5067	broad.mit.edu	37	3	74350684	74350684	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:74350684C>A	ENST00000263665.6	-	15	1987	c.1960G>T	c.(1960-1962)Gat>Tat	p.D654Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	654	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D654Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTTCCCATCGATGACCTCA	0.443000													3	71					0.004672	0.00476158	0.004672	1	0
RECQL5	9400	broad.mit.edu	37	17	73624837	73624837	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624837C>T	ENST00000317905.5	-	17	2654	c.2495G>A	c.(2494-2496)tGc>tAc	p.C832Y	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.C805Y	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	832					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.C805Y(2)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTGGGCGGGCAGGTGCTGGT	0.652000								Other identified genes with known or suspected DNA repair function					7	42					0	0	0.003080	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712087	140712087	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140712087C>T	ENST00000517417.1	+	1	1836	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	PCDHGA1_ENST00000378105.3_Silent_p.S612S	NM_018912.2	NP_061735.1												p.S612S(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGCCAGCGAGCCGGGAC	0.692000													16	46					0	0	0.004007	0	0
LLGL2	3993	broad.mit.edu	37	17	73554290	73554290	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73554290G>A	ENST00000392550.3	+	4	345	c.228G>A	c.(226-228)gtG>gtA	p.V76V	LLGL2_ENST00000577200.1_Silent_p.V76V|LLGL2_ENST00000167462.5_Silent_p.V76V|LLGL2_ENST00000578363.1_Silent_p.V76V|LLGL2_ENST00000375227.4_Silent_p.V76V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	76					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.V76V(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACAACGCTGTGACGCAGATCC	0.632000													18	123					0	0	0.008871	0	0
ACTA1	58	broad.mit.edu	37	1	229568092	229568092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:229568092C>T	ENST00000366684.3	-	4	643	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	181			D -> G (in NEM3).|D -> H (in NEM3).|D -> N (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	p.D181N(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCCGCCAGGTCCAGGCGCATG	0.682000													5	35					0	0	0.000602	0	0
PLCH1	23007	broad.mit.edu	37	3	155232674	155232674	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:155232674C>G	ENST00000460012.1	-	12	1738		c.e12-1		PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.?(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCATTACTCTGCAAAGAAT	0.348000													5	36					0	0	0.000602	0	0
RBM4B	83759	broad.mit.edu	37	11	66436149	66436149	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:66436149C>T	ENST00000525754.1	-	2	1694	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	RBM4B_ENST00000310046.4_Missense_Mutation_p.M342I|RBM4B_ENST00000529195.2_5'UTR|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	342	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	p.M342I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CATACCGGGCCATGTCATACA	0.517000													12	32					0	0	0.002450	0	0
ZNF584	201514	broad.mit.edu	37	19	58927283	58927283	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58927283G>C	ENST00000599238.1	+	4	747	c.281G>C	c.(280-282)tGa>tCa	p.*94S	ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.L122F|ZNF584_ENST00000306910.4_Intron|ZNF584_ENST00000596921.1_Intron			Q8IVC4	ZN584_HUMAN	zinc finger protein 584	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TGCGTGTCTTGAAATGTGCAC	0.463000													3	82					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179481355	179481355	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179481355G>A	ENST00000589042.1	-	257	48387	c.48163C>T	c.(48163-48165)Cgc>Tgc	p.R16055C	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7115C|TTN_ENST00000342175.6_Missense_Mutation_p.R7182C|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14414C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13487C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6990C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14414	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R13487C(2)|p.R7182C(1)|p.R6990C(1)|p.R7115C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTGGGCGAGCTGAAAAA	0.383000													10	32					0	0	0.006214	0	0
DOPEY2	9980	broad.mit.edu	37	21	37595610	37595610	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:37595610C>G	ENST00000399151.3	+	11	1417	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	444					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.L444L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGACTTTCTCTGGGATTATA	0.368000													17	91					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57769685	57769685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:57769685C>T	ENST00000371030.2	+	1	3611	c.3611C>T	c.(3610-3612)tCt>tTt	p.S1204F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1204						intracellular	nucleic acid binding|zinc ion binding	p.S1204F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGCGGCATCTGTGTACTTG	0.622000													13	39					0	0	0.001368	0	0
CABIN1	23523	broad.mit.edu	37	22	24468354	24468354	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:24468354C>T	ENST00000398319.2	+	18	2911	c.2526C>T	c.(2524-2526)gtC>gtT	p.V842V	CABIN1_ENST00000263119.5_Silent_p.V842V|CABIN1_ENST00000405822.2_Silent_p.V792V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	842					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.V842V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCCCCACGTCTCTTCAGTGC	0.582000													7	34					0	0	0.003080	0	0
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:82072745G>C	ENST00000356860.3	-	1	369	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.L11V|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11						voltage-gated calcium channel complex	metal ion binding	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAAAGTGTCAGAGTCAAGGCC	0.672000													4	26					0	0	0.009096	0	0
FOXP2	93986	broad.mit.edu	37	7	114304340	114304340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:114304340G>T	ENST00000408937.3	+	17	2301	c.1927G>T	c.(1927-1929)Gag>Tag	p.E643*	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E597*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E618*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E526*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.E618*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E433*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E635*	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	618					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	p.E643*(1)|p.E643Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCCTTGGCAGAGAGCAGTTT	0.388000													7	16					0.000274275	0.000281611	0.004482	1	0
OR3A1	4994	broad.mit.edu	37	17	3195373	3195373	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:3195373C>T	ENST00000323404.1	-	1	503	c.504G>A	c.(502-504)acG>acA	p.T168T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T168T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGAAGTTGAGCGTGGACATGG	0.567000													44	74					0	0	0.003610	0	0
WDR66	144406	broad.mit.edu	37	12	122398579	122398579	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:122398579G>A	ENST00000288912.4	+	14	3076	c.2222G>A	c.(2221-2223)cGc>cAc	p.R741H	WDR66_ENST00000397454.2_Missense_Mutation_p.R741H	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	741							calcium ion binding	p.R741H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CGCTCTCATCGCAAAAGCATT	0.488000													8	100					0	0	0.004482	0	0
DDX60	55601	broad.mit.edu	37	4	169208323	169208323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:169208323C>T	ENST00000393743.3	-	10	1506	c.1215G>A	c.(1213-1215)atG>atA	p.M405I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	405							ATP binding|ATP-dependent helicase activity|RNA binding	p.M405I(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATAATCTTTCATAATGGTAT	0.353000													5	28					0	0	0.001168	0	0
KIAA0100	9703	broad.mit.edu	37	17	26945944	26945944	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26945944C>A	ENST00000528896.2	-	32	5762	c.5688G>T	c.(5686-5688)ctG>ctT	p.L1896L	KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Silent_p.L1753L|KIAA0100_ENST00000544884.1_Silent_p.L1753L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1896						extracellular region		p.L1896L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTGCTTTCGCAGCTCCATCT	0.532000													10	36					3.86212e-05	3.98913e-05	0.008291	1	0
BMS1	9790	broad.mit.edu	37	10	43297618	43297618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:43297618G>A	ENST00000374518.5	+	13	2344	c.2281G>A	c.(2281-2283)Gga>Aga	p.G761R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.G761R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCGTGACTGGAAAGTGGGA	0.413000													5	36					0	0	0.001168	0	0
OR1S2	219958	broad.mit.edu	37	11	57970695	57970695	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57970695C>G	ENST00000302592.6	-	1	958	c.959G>C	c.(958-960)aGa>aCa	p.R320T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R320T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGAAATTTTTCTATTGATGAG	0.428000													10	97					0	0	0.008291	0	0
ITGAV	3685	broad.mit.edu	37	2	187516805	187516805	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187516805C>G	ENST00000261023.3	+	15	1768	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	ITGAV_ENST00000374907.3_Silent_p.L462L|ITGAV_ENST00000433736.2_Silent_p.L452L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	498					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.L498L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GAACAGCTCTCAAAGTTTCCT	0.378000													8	16					0	0	0.004482	0	0
CAPN13	92291	broad.mit.edu	37	2	30976031	30976031	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:30976031G>A	ENST00000295055.8	-	10	1151	c.975C>T	c.(973-975)atC>atT	p.I325I	CAPN13_ENST00000534090.2_Silent_p.I325I	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	325	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.I325I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAAACATGGCGATGAATTTCT	0.438000													5	113					0	0	0.000602	0	0
NPFF	8620	broad.mit.edu	37	12	53900619	53900619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53900619C>G	ENST00000609999.1	-	2	626	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	RP11-793H13.10_ENST00000591834.1_3'UTR|NPFF_ENST00000267017.3_Missense_Mutation_p.E95Q			O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	p.E95Q(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TTCAGCCCCTCTCCAGCCCGG	0.552000													25	124					0	0	0.006320	0	0
APPL2	55198	broad.mit.edu	37	12	105601808	105601808	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105601808C>G	ENST00000551662.1	-	7	503	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	APPL2_ENST00000258530.3_Splice_Site|APPL2_ENST00000539978.2_Splice_Site			Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	139	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGTCATGCTCTAAAAATAAA	0.443000													27	153					0	0	0.005443	0	0
SEC16A	9919	broad.mit.edu	37	9	139371368	139371368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:139371368C>A	ENST00000313050.7	-	1	773	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	SEC16A_ENST00000371706.3_Nonsense_Mutation_p.E56*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E56*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E56*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	56					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.E234*(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAGGTCCTTCAGGGCAGGGT	0.652000													11	28					0.00136819	0.00140063	0.001368	1	0
EIF4G2	1982	broad.mit.edu	37	11	10825066	10825066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10825066C>T	ENST00000526148.1	-	9	1284	c.774G>A	c.(772-774)atG>atA	p.M258I	EIF4G2_ENST00000396525.2_Missense_Mutation_p.M258I|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M258I|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M258I	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	258	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.M258I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCACTGTCCTCATTATCTGAC	0.403000													10	56					0	0	0.010729	0	0
CNKSR3	154043	broad.mit.edu	37	6	154771348	154771348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:154771348C>G	ENST00000607772.1	-	2	641	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	33	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		p.E33Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTGATCTTCTCTCGTTCAAAC	0.517000													11	37					0	0	0.001368	0	0
PTK2	5747	broad.mit.edu	37	8	141856744	141856744	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:141856744G>C	ENST00000522684.1	-	6	713	c.484C>G	c.(484-486)Caa>Gaa	p.Q162E	PTK2_ENST00000519419.1_Missense_Mutation_p.Q206E|PTK2_ENST00000535192.1_Missense_Mutation_p.Q162E|PTK2_ENST00000517887.1_Missense_Mutation_p.Q206E|PTK2_ENST00000521059.1_Missense_Mutation_p.Q162E|PTK2_ENST00000395218.2_Missense_Mutation_p.Q162E|PTK2_ENST00000340930.3_Missense_Mutation_p.Q162E	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	162	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.Q162E(1)|p.Q72E(1)|p.Q184E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTCCACTTGATCAGCTATC	0.303000													4	46					0	0	0.009096	0	0
GRHL1	29841	broad.mit.edu	37	2	10126392	10126392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:10126392C>T	ENST00000324907.9	+	9	1387	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	GRHL1_ENST00000405379.2_Silent_p.I417I|GRHL1_ENST00000324883.5_Silent_p.I228I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	417					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.I417I(1)|p.I228I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACTGCCAGATCAAGGTCTTCT	0.468000													41	219					0	0	0.010771	0	0
KAT2A	2648	broad.mit.edu	37	17	40265686	40265686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40265686C>G	ENST00000225916.5	-	18	2548	c.2495G>C	c.(2494-2496)gGa>gCa	p.G832A		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	832					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.G832A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATGAGGCCTCCCTCCTTGAG	0.607000													8	48					0	0	0.006214	0	0
TF	7018	broad.mit.edu	37	3	133494392	133494392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:133494392C>T	ENST00000402696.3	+	15	2288	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	TF_ENST00000264998.3_Silent_p.A474A	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	601	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.A601A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGCCAGAGCCCCGAATCACG	0.512000													13	179					0	0	0.001855	0	0
TRMT10A	93587	broad.mit.edu	37	4	100479303	100479303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:100479303G>C	ENST00000273962.3	-	3	563	c.251C>G	c.(250-252)tCa>tGa	p.S84*	TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.S84*|TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.S84*	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)									p.S84*(1)									ATGTCCATCTGAGTTTGGTTC	0.338000													8	47					0	0	0.003080	0	0
ERO1LB	56605	broad.mit.edu	37	1	236390014	236390014	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:236390014G>C	ENST00000354619.5	-	11	939	c.738C>G	c.(736-738)ttC>ttG	p.F246L		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	246					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	p.F246L(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TAAGCTTATAGAAGACTCTTT	0.318000													21	59					0	0	0.010504	0	0
RTCB	51493	broad.mit.edu	37	22	32788307	32788307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:32788307C>T	ENST00000216038.5	-	11	1428	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	RTCB_ENST00000451746.2_Silent_p.*176*	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.D444N(1)									TCCTGGAAATCTAAATTACGT	0.413000													8	40					0	0	0.004482	0	0
EIF4G2	1982	broad.mit.edu	37	11	10821742	10821742	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10821742G>T	ENST00000526148.1	-	18	2524	c.2014C>A	c.(2014-2016)Cct>Act	p.P672T	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P634T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P672T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P672T	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	672					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P672T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAAGAGAGGAAAATGGGTG	0.408000													15	40					7.93312e-07	8.31834e-07	0.002450	1	0
ATP7A	538	broad.mit.edu	37	X	77245376	77245376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:77245376G>C	ENST00000341514.6	+	4	1413	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	ATP7A_ENST00000343533.5_Missense_Mutation_p.E420Q|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	420	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.E420Q(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGGGACTGTTGAGTATGATCC	0.403000													6	66					0	0	0.001168	0	0
VIT	5212	broad.mit.edu	37	2	37000939	37000939	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37000939T>C	ENST00000379242.3	+	8	987	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	VIT_ENST00000379241.3_Missense_Mutation_p.W229R|VIT_ENST00000401530.1_Missense_Mutation_p.W229R|VIT_ENST00000404084.1_Intron|VIT_ENST00000389975.3_Missense_Mutation_p.W229R|VIT_ENST00000497382.1_5'UTR	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	229						proteinaceous extracellular matrix		p.W229R(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TACAGATCTCTGGTCCACTGC	0.408000													8	7					0	0	0.003080	0	0
LAMA1	284217	broad.mit.edu	37	18	7024444	7024444	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:7024444G>C	ENST00000389658.3	-	18	2517	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	808	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.L808L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCATCATTGAGGTGGCAGG	0.438000													3	17					0	0	0.009096	0	0
ZNF544	27300	broad.mit.edu	37	19	58772988	58772988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58772988C>T	ENST00000269829.4	+	7	1490	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.S311L|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S197L|ZNF544_ENST00000415203.2_Missense_Mutation_p.S311L|ZNF544_ENST00000596652.1_Missense_Mutation_p.S339L|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.S311L	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S339L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CCCATGGCCTCATCTTTTTCT	0.473000													22	62					0	0	0.002299	0	0
ATP6V1A	523	broad.mit.edu	37	3	113528247	113528247	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113528247G>A	ENST00000273398.3	+	15	1935	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	ATP6V1A_ENST00000538620.1_Silent_p.Q576Q|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	609					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.Q609Q(1)|p.Q609H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGACATGCAGAATGCATTCC	0.393000													7	48					0	0	0.001984	0	0
ACAD10	80724	broad.mit.edu	37	12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	rs142030532	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112194215G>A	ENST00000455480.2	+	22	3388	c.3211G>A	c.(3211-3213)Gac>Aac	p.D1071N	RP11-162P23.2_ENST00000546840.2_Intron|ACAD10_ENST00000313698.4_Missense_Mutation_p.D1040N	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1040							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGCTTTGCCGACGGCCCTGA	0.647000													9	32					0	0	0.004482	0	0
LCTL	197021	broad.mit.edu	37	15	66853624	66853624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66853624C>G	ENST00000341509.5	-	5	641	c.510G>C	c.(508-510)caG>caC	p.Q170H	LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	170					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.Q170H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCACATTCTGCCACCCAC	0.522000													18	103					0	0	0.012319	0	0
ULK1	8408	broad.mit.edu	37	12	132380333	132380333	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:132380333G>A	ENST00000321867.4	+	3	561	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	70	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.L70L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTAGGAACTGAAACATGAAA	0.632000													9	59					0	0	0.006214	0	0
DHRS12	79758	broad.mit.edu	37	13	52373793	52373793	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:52373793C>T	ENST00000444610.2	-	2	80	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Start_Codon_SNP_p.M1I|DHRS12_ENST00000280056.2_Start_Codon_SNP_p.M1I	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	23							binding|oxidoreductase activity	p.M1I(4)		cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGCAGATTCATAGCCACTC	0.493000													78	104					0	0	0.003610	0	0
KMT2C	58508	broad.mit.edu	37	7	151927069	151927069	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:151927069C>T	ENST00000355193.2	-	18	3133	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	KMT2C_ENST00000262189.6_Missense_Mutation_p.G972E					lysine (K)-specific methyltransferase 2C									p.G972E(4)									AAGTAATCTTCCTTCTGCTCC	0.353000													10	165					0	0	0.008871	0	0
PITRM1	10531	broad.mit.edu	37	10	3205933	3205933	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205933G>A	ENST00000380989.2	-	7	813	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.H259Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.H227Y	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	227					proteolysis		metalloendopeptidase activity|zinc ion binding	p.H259Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTGCTTGGGTGATAGTGAGTG	0.463000													16	76					0	0	0.004990	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218754	209218754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:209218754C>T	ENST00000264380.4	+	40	6135	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1993	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.H1993Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTCGTTCTCATTCCAAAGC	0.418000													24	107					0	0	0.005443	0	0
HRNR	388697	broad.mit.edu	37	1	152192570	152192570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:152192570C>T	ENST00000368801.2	-	3	1610	c.1535G>A	c.(1534-1536)gGt>gAt	p.G512D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	512					keratinization		calcium ion binding|protein binding	p.G512D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGATGAACCTGCACTAGA	0.572000													120	236					0	0	0.003610	0	0
RPS6	6194	broad.mit.edu	37	9	19376351	19376351	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:19376351C>G	ENST00000380394.4	-	6	748	c.690G>C	c.(688-690)aaG>aaC	p.K230N	RPS6_ENST00000380384.1_Missense_Mutation_p.K199N|RPS6_ENST00000315377.4_Missense_Mutation_p.K199N|RPS6_ENST00000498815.1_5'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	230					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	p.K230N(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GTCTGCGTCTCTTCGCAATTT	0.408000													23	53					0	0	0.004656	0	0
TMEM41B	440026	broad.mit.edu	37	11	9304976	9304976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9304976C>G	ENST00000528080.1	-	7	1209	c.871G>C	c.(871-873)Gag>Cag	p.E291Q		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	291						integral to membrane		p.E291Q(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TATTTTTACTCAAATTTCTGC	0.333000													2	16					0	0	0.004672	0	0
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:43323891C>T	ENST00000331495.3	+	26	3567	c.3231C>T	c.(3229-3231)ttC>ttT	p.F1077F	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Intron|FMNL1_ENST00000587489.1_Intron	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.F1077F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGTGCCCTTCACGGCCCGCA	0.582000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	0.008871	0	0
MRPL3	11222	broad.mit.edu	37	3	131217033	131217033	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:131217033G>A	ENST00000264995.3	-	4	605	c.458C>T	c.(457-459)tCa>tTa	p.S153L	MRPL3_ENST00000425847.2_Missense_Mutation_p.S180L|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	153					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	p.S153L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ACGAAAACGTGATACAGTTTT	0.348000													18	71					0	0	0.008871	0	0
CCDC180	100499483	broad.mit.edu	37	9	100079488	100079488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:100079488G>T	ENST00000375202.2	+	23	2421	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	CCDC180_ENST00000529487.1_Nonsense_Mutation_p.E357*|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.E496*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.E354*|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Nonsense_Mutation_p.E496*|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180									p.E357*(1)|p.E496*(1)									TCTCAAGAAGGAGGCCCTGCT	0.632000													4	29					0.00024832	0.000255341	0.009096	1	0
PSME1	5720	broad.mit.edu	37	14	24607692	24607692	+	Missense_Mutation	SNP	C	C	T	rs144591736	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:24607692C>T	ENST00000382708.3	+	10	655	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PSME1_ENST00000206451.6_Missense_Mutation_p.R198W|PSME1_ENST00000559123.1_Missense_Mutation_p.R39W|PSME1_ENST00000561435.1_Missense_Mutation_p.R198W	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		p.R198W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GGGTGATTATCGGCAGCTGGT	0.607000													27	105					0	0	0.004656	0	0
ZBTB37	84614	broad.mit.edu	37	1	173839952	173839952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839952C>T	ENST00000367701.5	+	2	780	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	ZBTB37_ENST00000367702.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000427304.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000367704.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000432989.1_Nonsense_Mutation_p.Q197*			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q197*(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CACCAGCCCTCAGATCATTGA	0.552000													12	43					0	0	0.002450	0	0
FRS2	10818	broad.mit.edu	37	12	69964277	69964277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:69964277G>A	ENST00000299293.2	+	7	743	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	FRS2_ENST00000397997.2_Missense_Mutation_p.R78Q|FRS2_ENST00000549921.1_Missense_Mutation_p.R78Q|FRS2_ENST00000550389.1_Missense_Mutation_p.R78Q	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	78	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R78Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAAAGTGGTCGAAGGTGTCAA	0.363000													12	41					0	0	0.010729	0	0
FADS1	3992	broad.mit.edu	37	11	61580081	61580081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:61580081C>T	ENST00000350997.7	-	3	778	c.546G>A	c.(544-546)atG>atA	p.M182I	FADS1_ENST00000542506.1_Missense_Mutation_p.M41I|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Missense_Mutation_p.M41I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	125					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	p.M125I(1)		central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTTGGCCTTCATGAGCCCCA	0.552000													6	23					0	0	0.003080	0	0
SPATA21	374955	broad.mit.edu	37	1	16735685	16735685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:16735685C>T	ENST00000335496.1	-	7	1083	c.601G>A	c.(601-603)Gag>Aag	p.E201K	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.E178K	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	201							calcium ion binding	p.E201K(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGCTCTGCTCTTCCGGCTCC	0.627000													3	36					0	0	0.004672	0	0
CASC4	113201	broad.mit.edu	37	15	44624216	44624216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:44624216G>C	ENST00000299957.6	+	4	815	c.516G>C	c.(514-516)ttG>ttC	p.L172F	CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Missense_Mutation_p.L172F	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	172						integral to membrane		p.L172F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGAAGGAATTGAGAGCACAGC	0.284000													4	29					0	0	0.003080	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74205546	74205546	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74205546G>C	ENST00000286523.5	-	2	1948	c.1166C>G	c.(1165-1167)tCc>tGc	p.S389C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.S389C	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.S389C(1)									CTGCCCCAGGGAGCCAGGTGG	0.677000													6	11					0	0	0.001984	0	0
P2RY2	5029	broad.mit.edu	37	11	72945966	72945966	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945966C>T	ENST00000311131.2	+	3	1229	c.762C>T	c.(760-762)ttC>ttT	p.F254F	P2RY2_ENST00000393596.2_Silent_p.F254F|P2RY2_ENST00000393597.2_Silent_p.F254F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	254					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.F254F(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGGCTGTCTTCGCCCTCTGCT	0.652000													4	42					0	0	0.009096	0	0
TRIT1	54802	broad.mit.edu	37	1	40310268	40310268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40310268C>T	ENST00000316891.5	-	9	1065	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	TRIT1_ENST00000537223.1_Missense_Mutation_p.D47N|TRIT1_ENST00000441669.2_Missense_Mutation_p.D269N|TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000537440.1_Missense_Mutation_p.D47N|TRIT1_ENST00000545233.1_Missense_Mutation_p.D105N|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000372818.1_Missense_Mutation_p.D325N	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	351					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	p.D351N(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCGAGACATCAGATACCTCT	0.433000													6	265					0	0	0.001984	0	0
ANKZF1	55139	broad.mit.edu	37	2	220094995	220094995	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:220094995G>A	ENST00000323348.5	+	2	190	c.16G>A	c.(16-18)Gat>Aat	p.D6N	ANKZF1_ENST00000409849.1_Intron|ANKZF1_ENST00000410034.3_Missense_Mutation_p.D6N	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	6						intracellular	zinc ion binding	p.D6N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGCTCCAGATGCAGCCCC	0.602000													5	24					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578493	7578493	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578493C>G	ENST00000420246.2	-	5	569	c.437G>C	c.(436-438)tGg>tCg	p.W146S	TP53_ENST00000455263.2_Missense_Mutation_p.W146S|TP53_ENST00000413465.2_Missense_Mutation_p.W146S|TP53_ENST00000445888.2_Missense_Mutation_p.W146S|TP53_ENST00000269305.4_Missense_Mutation_p.W146S|TP53_ENST00000359597.4_Missense_Mutation_p.W146S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		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.W146*(33)|p.0?(8)|p.W146S(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.W14S(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W53S(1)|p.V143_S149del(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)		GGAATCAACCCACAGCTGCAC	0.602000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	25					0	0	0.006122	0	0
RFTN2	130132	broad.mit.edu	37	2	198498569	198498569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:198498569C>T	ENST00000295049.4	-	4	1127	c.591G>A	c.(589-591)tgG>tgA	p.W197*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane		p.W197*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCCCTTCATTCCAACTTCTAC	0.408000													16	139					0	0	0.004990	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647241	33647241	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:33647241G>A	ENST00000558425.1	-	2	358	c.359C>T	c.(358-360)gCg>gTg	p.A120V																								ACTTCCCCTCGCTGTGTGTTT	0.572000													23	121					0	0	0.005443	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546253	112546253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546253C>T	ENST00000488794.1	-	5	917	c.328G>A	c.(328-330)Gat>Aat	p.D110N	CD200R1L_ENST00000448932.1_Missense_Mutation_p.D110N|CD200R1L_ENST00000398214.1_Missense_Mutation_p.D131N			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	131	Ig-like V-type.					integral to membrane	receptor activity	p.D131N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AAATTCCCATCAGGTGTTACC	0.453000													20	90					0	0	0.010504	0	0
UTP20	27340	broad.mit.edu	37	12	101767492	101767492	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:101767492G>A	ENST00000261637.4	+	54	7252	c.7078G>A	c.(7078-7080)Gag>Aag	p.E2360K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.E2360K(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AATCAGCCTCGAGAAAAAAGA	0.418000													9	57					0	0	0.008291	0	0
BRDT	676	broad.mit.edu	37	1	92446495	92446495	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:92446495G>A	ENST00000370389.2	+	10	2215	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	BRDT_ENST00000402388.1_Missense_Mutation_p.E504K|BRDT_ENST00000362005.3_Missense_Mutation_p.E504K|BRDT_ENST00000399546.2_Missense_Mutation_p.E504K|BRDT_ENST00000394530.3_Missense_Mutation_p.E458K	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.E504K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCTGAAGATGAAGATAATGC	0.333000													9	82					0	0	0.006214	0	0
SMG9	56006	broad.mit.edu	37	19	44235749	44235749	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:44235749C>G	ENST00000270066.6	-	14	1904	c.1562G>C	c.(1561-1563)tGa>tCa	p.*521S		NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	0					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	p.*521S(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCCTTGGCCTCAGGCCAGCAG	0.637000													12	70					0	0	0.001368	0	0
ZNF536	9745	broad.mit.edu	37	19	31039228	31039228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:31039228G>A	ENST00000355537.3	+	4	2849	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	901					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G901E(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGAGATCGGAAGAGCTTAT	0.512000													33	202					0	0	0.012213	0	0
GTF2H3	2967	broad.mit.edu	37	12	124132646	124132646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:124132646G>A	ENST00000543341.2	+	4	368	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	GTF2H3_ENST00000228955.7_Missense_Mutation_p.E72K	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	113					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	p.E113K(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AGTTATTGTTGAAGAGATTAA	0.353000								Nucleotide excision repair (NER)					13	69					0	0	0.001855	0	0
RNF8	9025	broad.mit.edu	37	6	37328350	37328350	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:37328350G>T	ENST00000373479.4	+	2	433	c.240G>T	c.(238-240)aaG>aaT	p.K80N	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Splice_Site_p.K80N|RNF8_ENST00000394443.4_Splice_Site_p.K80N	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	80	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.K80N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TGGACAACAAGGTACAGGAAT	0.333000													10	28					2.68362e-12	2.85729e-12	0.001368	1	0
FIP1L1	81608	broad.mit.edu	37	4	54324885	54324885	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:54324885G>A	ENST00000337488.6	+	17	1759	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	FIP1L1_ENST00000306932.6_Missense_Mutation_p.R448Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R516Q|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	522	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R522Q(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGAGCAAGTCGAGAAAAAGAA	0.388000			T	PDGFRA	idiopathic hypereosinophilic syndrome								3	19					0	0	0.004672	0	0
ORC3	23595	broad.mit.edu	37	6	88362934	88362934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:88362934G>C	ENST00000392844.3	+	14	1531	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000546266.1_Missense_Mutation_p.E352Q|ORC3_ENST00000257789.4_Missense_Mutation_p.E495Q	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	495					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.E495Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TAAGAGAATAGAGGAGTTCCT	0.403000													6	55					0	0	0.001984	0	0
ZNF671	79891	broad.mit.edu	37	19	58233027	58233027	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58233027C>G	ENST00000317398.6	-	4	522	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	ZNF671_ENST00000335820.3_Missense_Mutation_p.E45Q|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E143Q(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATGCTCTGCTCAGAAGATACC	0.468000													11	92					0	0	0.001368	0	0
PTK2	5747	broad.mit.edu	37	8	141774419	141774419	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:141774419G>T	ENST00000519465.1	-	1	203	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000520151.1_Missense_Mutation_p.S11Y|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TATGTTGAAAGAGGTTAAACA	0.338000													9	49					0.00448238	0.00457507	0.004482	1	0
RAB6C	84084	broad.mit.edu	37	2	130738132	130738132	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:130738132G>A	ENST00000410061.2	+	1	898	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	148					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	p.L148L(1)		large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					CCAAAGGGCTGAATGTTACGT	0.463000													35	158					0	0	0.004878	0	0
FOLH1	2346	broad.mit.edu	37	11	49229913	49229913	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:49229913G>A	ENST00000256999.2	-	1	309	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.R17C	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	17					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R17C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAGCGCGGGCGGCGCGCGGTG	0.711000													3	7					0	0	0.004672	0	0
TDRD1	56165	broad.mit.edu	37	10	115947866	115947866	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:115947866C>T	ENST00000251864.2	+	2	429	c.276C>T	c.(274-276)atC>atT	p.I92I	TDRD1_ENST00000369281.2_Silent_p.I92I|TDRD1_ENST00000369282.1_Silent_p.I92I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Silent_p.I92I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	92					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.I92I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGAATGGCATCAACGGAGAAG	0.398000													13	51					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38976369	38976369	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:38976369C>G	ENST00000355481.4	+	34	5205	c.5074C>G	c.(5074-5076)Cag>Gag	p.Q1692E	RYR1_ENST00000359596.3_Missense_Mutation_p.Q1692E|RYR1_ENST00000360985.3_Missense_Mutation_p.Q1692E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1692	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q1692E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACCAAGCTCAGCTGCTGCA	0.667000													39	81					0	0	0.008740	0	0
KIAA0556	23247	broad.mit.edu	37	16	27640096	27640096	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:27640096G>A	ENST00000261588.4	+	4	274	c.255G>A	c.(253-255)cgG>cgA	p.R85R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	85								p.R85R(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATCACCGCGGAAAGCTATTC	0.532000													12	97					0	0	0.010729	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252142	26252142	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26252142G>C	ENST00000356350.2	+	1	264	c.264G>C	c.(262-264)tcG>tcC	p.S88S		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	88					nucleosome assembly	nucleosome|nucleus	DNA binding	p.S88S(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ACAAGCGTTCGACCATCACCT	0.597000													6	97					0	0	0.001984	0	0
HJURP	55355	broad.mit.edu	37	2	234749538	234749538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234749538C>T	ENST00000411486.2	-	8	1953	c.1888G>A	c.(1888-1890)Gac>Aac	p.D630N	HJURP_ENST00000432087.1_Missense_Mutation_p.D576N|HJURP_ENST00000441687.1_Missense_Mutation_p.D545N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	630					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.D630N(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGTGAGGGTCTGGATTTAAT	0.448000													16	61					0	0	0.004007	0	0
RECQL5	9400	broad.mit.edu	37	17	73623520	73623520	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623520C>T	ENST00000317905.5	-	20	3117	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L959L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	986					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.L959L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGGCCACACAGGCCATGCC	0.632000								Other identified genes with known or suspected DNA repair function					21	126					0	0	0.012319	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101451120	101451120	+	RNA	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:101451120G>C	ENST00000554693.2	+	0	886				SNORD114-24_ENST00000365029.1_RNA																							ATCCTGGATCGATGGTGACTG	0.343000													13	35					0	0	0.004007	0	0
ASPM	259266	broad.mit.edu	37	1	197112229	197112229	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:197112229C>G	ENST00000367409.4	-	3	1409	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E385Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	385					mitosis	cytoplasm|nucleus	calmodulin binding	p.E385Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTAACTGACTCTGATTCTAGA	0.289000													11	58					0	0	0.001855	0	0
BAX	581	broad.mit.edu	37	19	49464129	49464129	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49464129C>T	ENST00000293288.8	+	5	432	c.432C>T	c.(430-432)ctC>ctT	p.L144L	BAX_ENST00000345358.7_Silent_p.L144L|BAX_ENST00000354470.3_Silent_p.L95L|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Silent_p.L144L|BAX_ENST00000539787.1_3'UTR	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	144					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.L144L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TGGACTTCCTCCGGGAGCGGC	0.642000													45	46					0	0	0.013114	0	0
CLDN25	644672	broad.mit.edu	37	11	113650985	113650985	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113650985C>G	ENST00000453129.2	+	1	517	c.468C>G	c.(466-468)atC>atG	p.I156M		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	156						integral to membrane|tight junction	structural molecule activity	p.I156M(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCCTGACATCATACCTCGGT	0.582000													6	26					0	0	0.001168	0	0
INTS12	57117	broad.mit.edu	37	4	106614616	106614616	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:106614616C>G	ENST00000451321.2	-	4	816	c.337G>C	c.(337-339)Gat>Cat	p.D113H	INTS12_ENST00000340139.5_Missense_Mutation_p.D113H|INTS12_ENST00000394735.1_Missense_Mutation_p.D113H	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	113					snRNA processing	integrator complex	protein binding|zinc ion binding	p.D113H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTGGAATATCAACTCCTTCA	0.373000													36	114					0	0	0.003271	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083998	106083998	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:106083998G>C	ENST00000357242.5	+	10	1777	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D529H|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D535H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	535	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D535H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTGAACGTGATTTACGTCG	0.463000													12	56					0	0	0.001855	0	0
FRMD1	79981	broad.mit.edu	37	6	168464360	168464360	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:168464360G>C	ENST00000283309.6	-	6	789	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FRMD1_ENST00000537786.1_Missense_Mutation_p.P13R|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.P174R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	242	FERM.					cytoskeleton	binding	p.P242R(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCTCCTTGGGGCTCAGGCC	0.652000													8	24					0	0	0.006214	0	0
PRKD2	25865	broad.mit.edu	37	19	47207801	47207801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47207801G>A	ENST00000433867.1	-	5	1094	c.617C>T	c.(616-618)tCg>tTg	p.S206L	PRKD2_ENST00000595515.1_Missense_Mutation_p.S206L|PRKD2_ENST00000600194.1_Missense_Mutation_p.S49L|PRKD2_ENST00000601806.1_Missense_Mutation_p.S49L|PRKD2_ENST00000291281.4_Missense_Mutation_p.S206L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	206					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.S206L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGCGCACCGAGTGGCCACT	0.657000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	55					0	0	0.003954	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789920	25789920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:25789920C>G	ENST00000399878.3	-	13	2265	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E562Q|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E680Q	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	715						integral to membrane	binding	p.E715Q(1)|p.E562Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGTACCACTCAATTGCTGCT	0.468000													15	87					0	0	0.003163	0	0
ROCK2	9475	broad.mit.edu	37	2	11427791	11427791	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:11427791G>C	ENST00000315872.6	-	2	661	c.213C>G	c.(211-213)ttC>ttG	p.F71L	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	71					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.F71L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCTATTTAAGAAATTATCTA	0.264000													3	13					0	0	0.004672	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778980	93778980	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93778980G>A	ENST00000315765.9	+	2	320	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	104	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L104L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468000													10	22					0	0	0.008291	0	0
BIRC8	112401	broad.mit.edu	37	19	53793212	53793212	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53793212G>C	ENST00000426466.1	-	1	1663	c.416C>G	c.(415-417)tCt>tGt	p.S139C		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	139					apoptosis		zinc ion binding	p.S139C(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GTTGCTCCCAGATGTTTGAAT	0.383000													23	210					0	0	0.002780	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769523	111769523	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:111769523G>A	ENST00000452346.2	+	9	1099	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E240K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	366	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.E240K(1)|p.E95K(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCAGAGTGTGAAAACACAGT	0.398000													32	207					0	0	0.002836	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196502	74196502	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196502C>T	ENST00000286523.5	-	4	2718	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E646K	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.E646K(1)									AAGCTCCGCTCAGAGGGGTGG	0.622000													14	19					0	0	0.001855	0	0
CLDN25	644672	broad.mit.edu	37	11	113651015	113651015	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113651015C>G	ENST00000453129.2	+	1	547	c.498C>G	c.(496-498)ctC>ctG	p.L166L		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	166						integral to membrane|tight junction	structural molecule activity	p.L166L(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GAGGTGCCCTCTACTTGGGCT	0.557000													10	17					0	0	0.006214	0	0
MACF1	23499	broad.mit.edu	37	1	39827347	39827347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39827347C>T	ENST00000564288.1	+	49	13546	c.12769C>T	c.(12769-12771)Cag>Tag	p.Q4257*	MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q4262*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2697*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4294*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2195*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4262					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q2195*(1)|p.Q2697*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACAGATCCAGGTGAGGAT	0.458000													299	46					0	0	0.003610	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263168	55263168	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55263168C>G	ENST00000342376.3	+	6	814	c.783C>G	c.(781-783)ctC>ctG	p.L261L	KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3									p.L261L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.512000													21	133					0	0	0.010504	0	0
LPHN2	23266	broad.mit.edu	37	1	82456581	82456581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:82456581C>G	ENST00000370728.1	+	25	4777	c.4132C>G	c.(4132-4134)Ctt>Gtt	p.L1378V	LPHN2_ENST00000394879.1_Missense_Mutation_p.L1380V|LPHN2_ENST00000370721.1_Missense_Mutation_p.L1303V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.L1322V|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1393V|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1350V|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1380V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1335V|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1393V|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1322V|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1335V|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1350V|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1378					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L1393V(1)|p.L1322V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATGCCCAATCTTAGAGACTC	0.507000													3	88					0	0	0.004672	0	0
MST1R	4486	broad.mit.edu	37	3	49933757	49933757	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49933757C>T	ENST00000296474.3	-	10	2547	c.2520G>A	c.(2518-2520)ggG>ggA	p.G840G	MST1R_ENST00000344206.4_Silent_p.G840G	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	840	IPT/TIG 3.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.G840G(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTCAGATTCCCTGCCACCC	0.597000													22	75					0	0	0.003954	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55624149	55624149	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55624149C>T	ENST00000263433.3	-	2	351	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PPP1R12C_ENST00000376393.2_Silent_p.E112E|PPP1R12C_ENST00000435544.2_Silent_p.E38E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	112						cytoplasm		p.E112E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCAGGTTCTCATCAATGC	0.647000													8	90					0	0	0.004482	0	0
SCARF1	8578	broad.mit.edu	37	17	1548932	1548932	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:1548932G>A	ENST00000263071.4	-	1	109	c.60C>T	c.(58-60)tcC>tcT	p.S20S	SCARF1_ENST00000571272.1_Silent_p.S20S|SCARF1_ENST00000348987.3_Silent_p.S20S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	20					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	p.S20S(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCCAGCTCGGACCCCTGAG	0.687000													3	3					0	0	0.009096	0	0
PRR13	54458	broad.mit.edu	37	12	53839821	53839821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53839821C>T	ENST00000429243.2	+	4	633	c.425C>T	c.(424-426)tCt>tTt	p.S142F	RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000547368.1_Missense_Mutation_p.S156F|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000379786.4_Missense_Mutation_p.S92F|PRR13_ENST00000549924.1_Missense_Mutation_p.S142F|PRR13_ENST00000549581.1_Missense_Mutation_p.S92F|PRR13_ENST00000551003.1_Missense_Mutation_p.S110F|PRR13_ENST00000549135.1_Missense_Mutation_p.S142F|PRR13_ENST00000549068.1_3'UTR|PRR13_ENST00000546581.1_Missense_Mutation_p.S46F	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	142	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S92F(1)|p.S142F(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCCTCTTCCAGCAGT	0.512000													32	64					0	0	0.002836	0	0
OR10G9	219870	broad.mit.edu	37	11	123893845	123893845	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:123893845C>A	ENST00000375024.1	+	1	126	c.126C>A	c.(124-126)ctC>ctA	p.L42L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L42L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAACCTCCTCATCCTGCTGG	0.572000													25	62					3.1745e-13	3.38515e-13	0.008361	1	0
SLC23A2	9962	broad.mit.edu	37	20	4848512	4848512	+	Silent	SNP	G	G	A	rs72552221	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:4848512G>A	ENST00000379333.1	-	13	1652	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC23A2_ENST00000338244.1_Silent_p.F420F|SLC23A2_ENST00000424750.2_Silent_p.F306F	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	420				GIFVEGL -> YVPEKTS (in Ref. 10).	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.F420F(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCTTCCACGAAAATTCCCC	0.403000													7	21					0	0	0.003080	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559516	46559516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46559516C>G	ENST00000242848.4	-	10	1984	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E546Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	546	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.E546Q(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCTGGACTCATTCCTTATT	0.438000													6	76					0	0	0.001168	0	0
BMX	660	broad.mit.edu	37	X	15548141	15548141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15548141C>G	ENST00000357607.2	+	10	1118	c.930C>G	c.(928-930)ctC>ctG	p.L310L	BMX_ENST00000342014.6_Silent_p.L310L|BMX_ENST00000348343.6_Silent_p.L310L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	310	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.L310L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACAGTTACTCAGACAAAAGG	0.368000													9	16					0	0	0.006214	0	0
DOT1L	84444	broad.mit.edu	37	19	2213597	2213597	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213597G>A	ENST00000398665.3	+	17	1653	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	539						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.Q539Q(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGCCCAGAAGGAGGAGA	0.632000													6	51					0	0	0.001984	0	0
PTGER4	5734	broad.mit.edu	37	5	40681862	40681862	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:40681862G>A	ENST00000302472.3	+	2	1791	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	256					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.R256H(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GACTTTCGGCGCCGCCGGAGC	0.716000													6	26					0	0	0.001984	0	0
ZNF695	57116	broad.mit.edu	37	1	247150452	247150452	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:247150452C>G	ENST00000339986.7	-	4	1512	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	455					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.K455N(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TATGAATTCTCTTATGATTAG	0.373000													30	22					0	0	0.008361	0	0
VIPR1	7433	broad.mit.edu	37	3	42573763	42573763	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:42573763C>T	ENST00000433647.1	+	11	1449	c.825C>T	c.(823-825)atC>atT	p.I275I	VIPR1_ENST00000438259.2_Silent_p.I106I|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I268I|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000325123.4_Silent_p.I316I|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	316					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.I316I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTTGCATCATCCGAATCCTGC	0.567000													18	29					0	0	0.006122	0	0
TIMP3	7078	broad.mit.edu	37	22	33255169	33255169	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:33255169C>T	ENST00000266085.6	+	5	742	c.441C>T	c.(439-441)atC>atT	p.I147I	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	147	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	p.I147I(1)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AATTGCAGATCAAGTCCTGCT	0.537000													12	37					0	0	0.010729	0	0
GJD2	57369	broad.mit.edu	37	15	35044759	35044759	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:35044759C>T	ENST00000290374.4	-	2	1362	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	296					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.E296K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTACGAATCTCATAGATTGAC	0.527000													6	36					0	0	0.001984	0	0
KPNA2	3838	broad.mit.edu	37	17	66042674	66042674	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042674C>A	ENST00000537025.2	+	11	2172	c.1552C>A	c.(1552-1554)Caa>Aaa	p.Q518K	KPNA2_ENST00000582898.1_3'UTR|KPNA2_ENST00000330459.3_Missense_Mutation_p.Q518K			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	518					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	p.Q518K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACACTTTCCAAGTTCAGGA	0.343000													12	78					7.03913e-09	7.44875e-09	0.001368	1	0
LOC647323	647323	broad.mit.edu	37	3	193711626	193711626	+	RNA	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:193711626C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TGCTGTTGTTCAGGGAAAGCA	0.478000													8	10					0	0	0.003080	0	0
TOPORS	10210	broad.mit.edu	37	9	32543021	32543021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32543021G>A	ENST00000360538.2	-	3	1618	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S436F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	501	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	p.S501F(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGTCCTCAGAATCAGAGGA	0.403000													32	41					0	0	0.009535	0	0
TAS2R42	353164	broad.mit.edu	37	12	11339184	11339184	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:11339184G>A	ENST00000334266.1	-	1	359	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	120					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.L120L(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACCTCAGCCAGAGGAAAAGGG	0.398000													13	27					0	0	0.003163	0	0
MSX1	4487	broad.mit.edu	37	4	4864675	4864675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:4864675G>C	ENST00000382723.4	+	2	951	c.717G>C	c.(715-717)aaG>aaC	p.K239N	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	233					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	p.K239N(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGCTGAAGATGGCCGCCA	0.657000													7	26					0	0	0.004482	0	0
UBE4A	9354	broad.mit.edu	37	11	118267074	118267074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267074G>C	ENST00000252108.3	+	20	3251	c.3120G>C	c.(3118-3120)caG>caC	p.Q1040H	UBE4A_ENST00000431736.2_Missense_Mutation_p.Q1047H|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q512H	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1040	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	p.Q1047H(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCATGGACCAGATCCGGCCAA	0.418000													6	60					0	0	0.006214	0	0
GALR2	8811	broad.mit.edu	37	17	74071212	74071212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74071212C>T	ENST00000329003.3	+	1	338	c.248C>T	c.(247-249)gCc>gTc	p.A83V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	83					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	p.A83V(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCCTTCCAGGCCACCATCTAC	0.632000													11	77					0	0	0.010729	0	0
TMEM41B	440026	broad.mit.edu	37	11	9308127	9308127	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9308127C>G	ENST00000528080.1	-	6	919	c.581G>C	c.(580-582)aGa>aCa	p.R194T	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	194						integral to membrane		p.R194T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAGATGTTCTCTATGACGTTC	0.303000													25	127					0	0	0.004656	0	0
KDELR1	10945	broad.mit.edu	37	19	48892915	48892915	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:48892915G>A	ENST00000597017.1	-	2	485	c.60C>T	c.(58-60)ttC>ttT	p.F20F	KDELR1_ENST00000330720.2_Silent_p.F82F			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	82					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	p.F82F(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AAGTAGCTTTGAACTTGCTAT	0.532000													12	74					0	0	0.010729	0	0
C17orf62	79415	broad.mit.edu	37	17	80401915	80401915	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80401915C>T	ENST00000437807.2	-	8	846	c.529G>A	c.(529-531)Gac>Aac	p.D177N	C17orf62_ENST00000336995.7_Silent_p.A28A|C17orf62_ENST00000578919.1_Missense_Mutation_p.D177N|C17orf62_ENST00000577436.1_Missense_Mutation_p.D163N|C17orf62_ENST00000434650.2_Missense_Mutation_p.D163N|C17orf62_ENST00000306645.5_Missense_Mutation_p.D177N|C17orf62_ENST00000585080.1_Missense_Mutation_p.D177N|C17orf62_ENST00000585064.1_Missense_Mutation_p.D177N|C17orf62_ENST00000342572.8_Missense_Mutation_p.D53N|C17orf62_ENST00000577732.1_Missense_Mutation_p.D177N|C17orf62_ENST00000583617.1_Intron	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	177						integral to membrane	protein binding	p.A66A(1)|p.D177N(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTCACTGTCGCTGCTCTGA	0.652000													19	135					0	0	0.008871	0	0
GBF1	8729	broad.mit.edu	37	10	104119055	104119055	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:104119055C>T	ENST00000369983.3	+	11	1300	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	347					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S347L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAGTCCCAGTCAGCATCTGTG	0.537000													20	40					0	0	0.008871	0	0
AFF3	3899	broad.mit.edu	37	2	100199373	100199373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:100199373C>T	ENST00000409236.2	-	15	2792	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	AFF3_ENST00000356421.2_Missense_Mutation_p.E919K|AFF3_ENST00000317233.4_Missense_Mutation_p.E894K|AFF3_ENST00000409579.1_Missense_Mutation_p.E919K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E919K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAGTCCTCGCTGGTGTAT	0.463000													13	52					0	0	0.003163	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622344	234622344	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234622344C>G	ENST00000608381.1	+	1	707	c.707C>G	c.(706-708)tCt>tGt	p.S236C	UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.S236C|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S236C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGCCTTGCCTCTGAGCTTTTT	0.527000													39	161					0	0	0.006999	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876975	39876975	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39876975G>C	ENST00000530275.1	+	1	825	c.630G>C	c.(628-630)aaG>aaC	p.K210N	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	210										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAGGGAAAAGACTTTTCTGA	0.458000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	619					0	0	0.002299	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476718	110476718	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:110476718C>T	ENST00000378402.5	+	49	7761	c.7657C>T	c.(7657-7659)Ctg>Ttg	p.L2553L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2553					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCAGTCTTCTGAATGATGA	0.428000										HNSCC(38;0.096)			6	47					0	0	0.001984	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600882	161600882	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:161600882C>T	ENST00000531221.1	-	1	114	c.111G>A	c.(109-111)atG>atA	p.M37I	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Start_Codon_SNP_p.M1I|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Start_Codon_SNP_p.M1I|FCGR3B_ENST00000294800.3_Start_Codon_SNP_p.M1I			O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	1					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.M1I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGCTGCCACATGATGCCAC	0.542000													7	27					0	0	0.004482	0	0
FANCA	2175	broad.mit.edu	37	16	89862344	89862344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89862344G>A	ENST00000389301.3	-	11	1006	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	FANCA_ENST00000568369.1_Nonsense_Mutation_p.Q326*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	326					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.Q326*(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGAGTATCTGAGTCAGGGTA	0.512000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	46					0	0	0.006214	0	0
SETD1A	9739	broad.mit.edu	37	16	30991419	30991419	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30991419G>C	ENST00000262519.8	+	14	4998	c.4312G>C	c.(4312-4314)Gag>Cag	p.E1438Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1438	Interaction with CFP1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.E1438Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTGGACTCAGAGGACATGAG	0.602000													3	26					0	0	0.004672	0	0
TLR9	54106	broad.mit.edu	37	3	52264889	52264889	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52264889C>T	ENST00000494383.1	-	2	186	c.187G>A	c.(187-189)Gat>Aat	p.D63N	TWF2_ENST00000305533.5_Silent_p.Q202Q|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Silent_p.Q202Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.Q202Q(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CACCCACCATCTGGATGTAGT	0.617000													3	15					0	0	0.004672	0	0
KIAA0947	23379	broad.mit.edu	37	5	5476188	5476188	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5476188G>C	ENST00000296564.7	+	17	6738	c.6516G>C	c.(6514-6516)ctG>ctC	p.L2172L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2172								p.L2172L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TACTGAGGCTGATTGGTAAGT	0.353000													3	10					0	0	0.004672	0	0
FBXL19	54620	broad.mit.edu	37	16	30941563	30941563	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30941563C>T	ENST00000338343.4	+	7	1346	c.959C>T	c.(958-960)tCg>tTg	p.S320L	FBXL19_ENST00000562319.1_Missense_Mutation_p.S320L|FBXL19_ENST00000565690.1_Missense_Mutation_p.S204L|FBXL19_ENST00000471231.2_Missense_Mutation_p.S28L|FBXL19_ENST00000380310.2_Missense_Mutation_p.S340L			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	340							DNA binding|zinc ion binding	p.S170L(1)|p.S340L(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCGGGCACATCGCTGAGTGAG	0.677000													7	41					0	0	0.004482	0	0
FAM83E	54854	broad.mit.edu	37	19	49113235	49113235	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49113235C>T	ENST00000263266.3	-	3	845	c.656G>A	c.(655-657)cGg>cAg	p.R219Q		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	219								p.R219Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGCAGCCCCGCACGACACG	0.627000													24	15					0	0	0.003954	0	0
POLR2F	5435	broad.mit.edu	37	22	38352817	38352817	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:38352817G>A	ENST00000442738.2	+	2	183	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	POLR2F_ENST00000488684.1_Missense_Mutation_p.E20K|POLR2F_ENST00000606538.1_Missense_Mutation_p.E20K|POLR2F_ENST00000470701.1_Missense_Mutation_p.E15K|POLR2F_ENST00000405557.1_Missense_Mutation_p.E20K|POLR2F_ENST00000460648.1_Missense_Mutation_p.E20K|POLR2F_ENST00000407936.1_Missense_Mutation_p.E20K	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	20					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	p.E20K(1)		breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GGAGGAGGATGAAGGGCTAGA	0.488000													8	38					0	0	0.003080	0	0
UTRN	7402	broad.mit.edu	37	6	144803392	144803392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:144803392C>T	ENST00000367545.3	+	26	3555	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1185					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L1185L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAAGATTCTCAAGGACAACA	0.458000													9	37					0	0	0.006214	0	0
LETMD1	25875	broad.mit.edu	37	12	51449628	51449628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:51449628C>T	ENST00000418425.2	+	5	542	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.P45S|LETMD1_ENST00000262055.4_Missense_Mutation_p.P162S|LETMD1_ENST00000550929.1_Missense_Mutation_p.P106S|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Silent_p.F95F	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	162	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding	p.P162S(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTACCTGTTTCCCAGGCAACT	0.418000													27	59					0	0	0.007291	0	0
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771000													5	17					0	0	0.000602	0	0
SON	6651	broad.mit.edu	37	21	34932335	34932335	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:34932335C>T	ENST00000300278.4	+	7	6839	c.6810C>T	c.(6808-6810)ccC>ccT	p.P2270P	SON_ENST00000290239.6_Intron|SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron	NM_032195.1	NP_115571	P18583	SON_HUMAN	SON DNA binding protein	0					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.P2270P(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATCCCTACCCAACATTGGGC	0.448000													7	46					0	0	0.001984	0	0
BBS5	129880	broad.mit.edu	37	2	170359659	170359659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170359659G>C	ENST00000295240.3	+	10	1247	c.871G>C	c.(871-873)Gac>Cac	p.D291H	BBS5_ENST00000554017.1_Missense_Mutation_p.D291H|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D291H|BBS5_ENST00000392663.2_Missense_Mutation_p.D270H	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5									p.D291H(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGTAGAAATAGACTCTGATGG	0.373000									Bardet-Biedl syndrome				9	17					0	0	0.004482	0	0
LTBP1	4052	broad.mit.edu	37	2	33412110	33412110	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:33412110C>T	ENST00000404816.2	+	6	1742	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	LTBP1_ENST00000390003.4_Silent_p.T137T|LTBP1_ENST00000418533.2_Silent_p.T137T|LTBP1_ENST00000404525.1_Silent_p.T137T|LTBP1_ENST00000402934.1_Silent_p.T137T|LTBP1_ENST00000354476.3_Silent_p.T463T|LTBP1_ENST00000407925.1_Silent_p.T137T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	463					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.T463T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACACATACCTTGCCTCTGA	0.517000													13	31					0	0	0.003163	0	0
PTRF	284119	broad.mit.edu	37	17	40556890	40556890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40556890C>T	ENST00000357037.5	-	2	1407	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	330					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.E330K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		ACCTGGCCCTCGCGGATCTTC	0.687000													15	46					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578419C>T	ENST00000420246.2	-	5	643	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.E171K|TP53_ENST00000413465.2_Missense_Mutation_p.E171K|TP53_ENST00000445888.2_Missense_Mutation_p.E171K|TP53_ENST00000269305.4_Missense_Mutation_p.E171K|TP53_ENST00000359597.4_Missense_Mutation_p.E171K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (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.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(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)		CTCACAACCTCCGTCATGTGC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	36					0	0	0.002780	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111640657	111640657	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:111640657G>A	ENST00000369680.4	-	11	1193	c.945C>T	c.(943-945)atC>atT	p.I315I	XPNPEP1_ENST00000369683.1_Silent_p.I244I|XPNPEP1_ENST00000322238.8_Silent_p.I358I|XPNPEP1_ENST00000502935.1_Silent_p.I358I	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	315					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.I358I(1)|p.I315I(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGGCGATGCAGATGGGGGTGT	0.567000													4	19					0	0	0.009096	0	0
PHF20	51230	broad.mit.edu	37	20	34435272	34435272	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34435272G>A	ENST00000374012.3	+	4	385	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Splice_Site_p.E86K			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.E86K(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTTTTTTAGGAATTTCAAAT	0.373000													18	41					0	0	0.010504	0	0
RIC8B	55188	broad.mit.edu	37	12	107208957	107208957	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:107208957G>A	ENST00000392837.4	+	3	767	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D166N|RIC8B_ENST00000392839.2_Missense_Mutation_p.D206N			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	206					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	p.D206N(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAGTGGACCGATGAGTATGA	0.507000													18	88					0	0	0.006122	0	0
MFRP	83552	broad.mit.edu	37	11	119212379	119212379	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:119212379G>C	ENST00000555262.1	-	13	1778	c.1619C>G	c.(1618-1620)tCt>tGt	p.S540C	MFRP_ENST00000530681.1_Missense_Mutation_p.S540C|MFRP_ENST00000449574.2_Missense_Mutation_p.S540C|MFRP_ENST00000360167.4_Missense_Mutation_p.S422C|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.S540C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGGCAGACAGAGCGGCAAGG	0.647000													14	26					0	0	0.001855	0	0
GSTA4	2941	broad.mit.edu	37	6	52850346	52850346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52850346C>T	ENST00000370959.1	-	4	292	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	GSTA4_ENST00000541324.1_5'UTR|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Intron			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCGTCAATTTCAACCATGGGC	0.468000													13	62					0	0	0.001855	0	0
RANGAP1	5905	broad.mit.edu	37	22	41647082	41647082	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:41647082G>T	ENST00000455915.2	-	12	2881	c.1412C>A	c.(1411-1413)tCt>tAt	p.S471Y	RANGAP1_ENST00000405486.1_Missense_Mutation_p.S471Y|RANGAP1_ENST00000407260.4_Missense_Mutation_p.S416Y|RANGAP1_ENST00000356244.3_Missense_Mutation_p.S471Y			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	471					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.S471Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGAAGGCAGAGACCACCTT	0.562000													9	35					1.12685e-05	1.17267e-05	0.004482	1	0
HEBP1	50865	broad.mit.edu	37	12	13142262	13142262	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:13142262G>A	ENST00000536942.1	-	2	316	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	HEBP1_ENST00000014930.4_Missense_Mutation_p.R56W			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	56					circadian rhythm	extracellular region		p.R56W(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATTGCTTCCCGTAGAGCCTCA	0.542000													38	105					0	0	0.005524	0	0
KANSL3	55683	broad.mit.edu	37	2	97276603	97276603	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97276603G>C	ENST00000599854.1	-	11	1385	c.918C>G	c.(916-918)ctC>ctG	p.L306L	KANSL3_ENST00000440133.1_Silent_p.L187L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Silent_p.L306L|KANSL3_ENST00000431828.1_Silent_p.L393L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	393								p.L393L(2)									TCATATCCAAGAGGGGATCAT	0.458000													19	92					0	0	0.008871	0	0
CCRL2	9034	broad.mit.edu	37	3	46450087	46450087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:46450087C>G	ENST00000399036.3	+	2	869	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	CCRL2_ENST00000400880.3_Missense_Mutation_p.Q173E|CCRL2_ENST00000400882.2_Missense_Mutation_p.Q173E|CCRL2_ENST00000357392.4_Missense_Mutation_p.Q185E	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2						chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	p.Q173E(1)		lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTATAAACCTCAGATGGAAGA	0.463000													13	68					0	0	0.001368	0	0
MTFR1	9650	broad.mit.edu	37	8	66619459	66619459	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:66619459G>A	ENST00000262146.4	+	6	858	c.732G>A	c.(730-732)gaG>gaA	p.E244E	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.E211E	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	244						mitochondrion|plasma membrane		p.E244E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TCCTTAAAGAGATGAACAGTG	0.378000													6	83					0	0	0.001168	0	0
TYK2	7297	broad.mit.edu	37	19	10478793	10478793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:10478793C>G	ENST00000525621.1	-	5	884	c.403G>C	c.(403-405)Gat>Cat	p.D135H	TYK2_ENST00000264818.6_Missense_Mutation_p.D135H|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.D135H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	135	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.D135H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGTCTGATCTGAGGATGCC	0.567000													9	27					0	0	0.006214	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038745	34038745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:34038745G>C	ENST00000382499.2	-	16	2066	c.2067C>G	c.(2065-2067)atC>atG	p.I689M	SYNJ1_ENST00000357345.3_Missense_Mutation_p.I650M|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I689M|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I645M|SYNJ1_ENST00000322229.7_Missense_Mutation_p.I650M	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	650	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.I650M(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTACTGACCTGATAAAAGGAG	0.388000													35	208					0	0	0.003755	0	0
MYH1	4619	broad.mit.edu	37	17	10399384	10399384	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10399384C>T	ENST00000226207.5	-	35	5146	c.5052G>A	c.(5050-5052)ctG>ctA	p.L1684L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1684						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L1684L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCCTGCAGCAGGTTGGCTC	0.592000													16	45					0	0	0.004007	0	0
MED13L	23389	broad.mit.edu	37	12	116420239	116420239	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:116420239C>T	ENST00000281928.3	-	22	5331	c.5125G>A	c.(5125-5127)Gaa>Aaa	p.E1709K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1709					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.E1709K(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCAGCATTTCTGTGTAGCAG	0.403000													23	99					0	0	0.003954	0	0
IGHD	3495	broad.mit.edu	37	14	106307448	106307448	+	RNA	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:106307448C>T	ENST00000390556.2	-	0	589																											GAGCATCCTTCAGGTCACTGC	0.657000													5	14					0	0	0.000602	0	0
QKI	9444	broad.mit.edu	37	6	163899843	163899843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:163899843G>C	ENST00000361752.3	+	3	868	c.317G>C	c.(316-318)aGa>aCa	p.R106T	QKI_ENST00000424802.3_Missense_Mutation_p.R106T|QKI_ENST00000275262.7_Missense_Mutation_p.R106T|QKI_ENST00000392127.2_Missense_Mutation_p.R106T|QKI_ENST00000453779.2_Missense_Mutation_p.R106T|QKI_ENST00000361195.2_Missense_Mutation_p.R106T	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	106	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.R106T(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTTGGACCTAGAGGACTTACA	0.358000													14	68					0	0	0.003163	0	0
CAT	847	broad.mit.edu	37	11	34470812	34470812	+	Missense_Mutation	SNP	G	G	A	rs148918137	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:34470812G>A	ENST00000241052.4	+	2	229	c.140G>A	c.(139-141)cGt>cAt	p.R47H		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	47					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	p.R47H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GTAGGGCCCCGTGGGCCCCTT	0.473000													17	72					0	0	0.004007	0	0
N4BP1	9683	broad.mit.edu	37	16	48595890	48595890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:48595890C>T	ENST00000262384.3	-	2	900	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	222					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.G222R(1)|p.G269R(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATATTCAGCCCTGTGGCAGCA	0.408000													7	32					0	0	0.001984	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000378133.3_Silent_p.A454A|PCDHA1_ENST00000394633.3_Silent_p.A454A	NM_018900.2	NP_061723.1												p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677000													25	62					0	0	0.005443	0	0
HRG	3273	broad.mit.edu	37	3	186395041	186395041	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:186395041C>T	ENST00000232003.4	+	7	1027	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	316	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.P316L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCACAAGGCCCTCCTCCACTA	0.498000													13	70					0	0	0.001855	0	0
DOT1L	84444	broad.mit.edu	37	19	2210638	2210638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210638G>A	ENST00000398665.3	+	14	1171	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	379						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E379K(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGAGGAAGAGAAGGCGGG	0.642000													20	151					0	0	0.010504	0	0
KLHL34	257240	broad.mit.edu	37	X	21675005	21675005	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:21675005G>A	ENST00000379499.2	-	1	1443	c.902C>T	c.(901-903)cCg>cTg	p.P301L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	301								p.P301L(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGCCCTCTGCGGGGCCGCGAC	0.682000													6	6					0	0	0.001168	0	0
MEF2D	4209	broad.mit.edu	37	1	156446809	156446809	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:156446809G>A	ENST00000348159.4	-	7	1330	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	MEF2D_ENST00000368240.2_Missense_Mutation_p.H284Y|MEF2D_ENST00000340875.5_Missense_Mutation_p.H283Y|MEF2D_ENST00000353795.3_Missense_Mutation_p.H238Y|MEF2D_ENST00000360595.3_Missense_Mutation_p.H284Y|MEF2D_ENST00000464356.2_Missense_Mutation_p.H283Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	284					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.H284Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTACCAAGTGATGCATTAAC	0.607000													7	61					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152496556	152496556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:152496556G>C	ENST00000397345.3	-	62	8906	c.8704C>G	c.(8704-8706)Ctc>Gtc	p.L2902V	NEB_ENST00000603639.1_Missense_Mutation_p.L2902V|NEB_ENST00000604864.1_Missense_Mutation_p.L2902V|NEB_ENST00000172853.10_Missense_Mutation_p.L2902V|NEB_ENST00000409198.1_Missense_Mutation_p.L2902V|NEB_ENST00000427231.2_Missense_Mutation_p.L2902V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2902					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.L2902V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCCACTGGAGATCAGACTTG	0.378000													25	89					0	0	0.007291	0	0
HM13	81502	broad.mit.edu	37	20	30137129	30137129	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:30137129C>A	ENST00000335574.5	+	6	784	c.660C>A	c.(658-660)gtC>gtA	p.V220V	HM13_ENST00000340852.5_Silent_p.V220V|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Silent_p.V220V	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	220					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	p.V220V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCTACGATGTCTTCTGGGTGA	0.562000													23	167					1.66031e-10	1.76232e-10	0.003954	1	0
GZF1	64412	broad.mit.edu	37	20	23350821	23350821	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:23350821G>A	ENST00000338121.5	+	6	1956	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	GZF1_ENST00000542987.1_Missense_Mutation_p.E136K|GZF1_ENST00000544236.1_Missense_Mutation_p.E151K|GZF1_ENST00000377051.2_Missense_Mutation_p.E627K			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	627					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.E627K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACAGCCTGACGAAGAGTATGT	0.448000													9	29					0	0	0.006214	0	0
FAM50B	26240	broad.mit.edu	37	6	3850759	3850759	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:3850759C>T	ENST00000380274.1	+	1	1140	c.714C>T	c.(712-714)atC>atT	p.I238I	FAM50B_ENST00000380272.3_Silent_p.I238I			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	238						nucleus		p.I238I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATGTTCATCAAGGAGGACC	0.627000													18	35					0	0	0.008871	0	0
KCNK4	50801	broad.mit.edu	37	11	64067068	64067068	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64067068C>G	ENST00000539216.1	+	6	1412	c.1052C>G	c.(1051-1053)tCg>tGg	p.S351W	KCNK4_ENST00000538767.1_Silent_p.L235L|KCNK4_ENST00000394525.2_Missense_Mutation_p.S351W|KCNK4_ENST00000422670.2_Missense_Mutation_p.S351W|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	351						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S351W(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GACGAGTCCTCGGATACGCAG	0.746000													11	32					0	0	0.002450	0	0
RAD1	5810	broad.mit.edu	37	5	34913668	34913668	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:34913668C>T	ENST00000382038.2	-	3	1633	c.214G>A	c.(214-216)Gag>Aag	p.E72K	RAD1_ENST00000341754.4_Missense_Mutation_p.E72K	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	72					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	p.E72K(1)		endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACTTTAAACTCCTGAAATATT	0.284000								Other conserved DNA damage response genes					12	32					0	0	0.001855	0	0
VANGL1	81839	broad.mit.edu	37	1	116206759	116206759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:116206759G>C	ENST00000355485.2	+	4	953	c.682G>C	c.(682-684)Gat>Cat	p.D228H	VANGL1_ENST00000369510.4_Missense_Mutation_p.D226H|VANGL1_ENST00000310260.3_Missense_Mutation_p.D228H|VANGL1_ENST00000369509.1_Missense_Mutation_p.D228H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	228					multicellular organismal development	integral to membrane	protein binding	p.D228H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCCTTGTGGATGCCCTCCT	0.557000													18	67					0	0	0.010504	0	0
GFM1	85476	broad.mit.edu	37	3	158384153	158384153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158384153G>T	ENST00000486715.1	+	13	1936	c.1579G>T	c.(1579-1581)Gag>Tag	p.E527*	GFM1_ENST00000478576.1_Nonsense_Mutation_p.E527*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.E546*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	527					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	p.E527*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCCTTTCGAGAGACCATTAC	0.358000													7	31					8.12818e-05	8.37046e-05	0.001984	1	0
EPPK1	83481	broad.mit.edu	37	8	144943483	144943483	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:144943483C>G	ENST00000525985.1	-	2	4010	c.3939G>C	c.(3937-3939)ctG>ctC	p.L1313L				P58107	EPIPL_HUMAN	epiplakin 1	1313						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.L1313L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCTCACTCAGCTCCCTGC	0.652000													21	74					0	0	0.003954	0	0
DNAH9	1770	broad.mit.edu	37	17	11656266	11656266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:11656266G>A	ENST00000262442.4	+	33	6795	c.6727G>A	c.(6727-6729)Gat>Aat	p.D2243N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2243N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2243N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGTCATGGATGATAACAA	0.453000													18	36					0	0	0.006122	0	0
ZNF681	148213	broad.mit.edu	37	19	23926861	23926861	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926861C>G	ENST00000402377.3	-	4	1632	c.1491G>C	c.(1489-1491)aaG>aaC	p.K497N	ZNF681_ENST00000395385.3_Missense_Mutation_p.K428N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K497N(1)|p.K428N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTCTTATGTGTAG	0.358000													20	55					0	0	0.008871	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929550	94929550	+	Silent	SNP	C	C	T	rs139618805	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94929550C>T	ENST00000337425.5	-	5	1262	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000380365.3_Silent_p.S378S|SERPINA9_ENST00000448305.2_Silent_p.S298S|SERPINA9_ENST00000424550.2_Silent_p.S247S|SERPINA9_ENST00000298845.7_Silent_p.S296S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	378					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S396S(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCCATCCTTCGATCGGACTA	0.498000													20	41					0	0	0.010504	0	0
NWD1	284434	broad.mit.edu	37	19	16860125	16860125	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:16860125C>T	ENST00000524140.2	+	6	1090	c.672C>T	c.(670-672)ctC>ctT	p.L224L	NWD1_ENST00000523826.1_Silent_p.L18L|NWD1_ENST00000339803.6_Silent_p.L89L|NWD1_ENST00000379808.3_Silent_p.L224L|NWD1_ENST00000552788.1_Silent_p.L224L|NWD1_ENST00000549814.1_Silent_p.L224L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	224							ATP binding	p.L224L(1)|p.L89L(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAACCTTCTCAGCAGCCTCA	0.587000													21	57					0	0	0.008871	0	0
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)aggfs	p.R2267fs	MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.R2272fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													8	502	---	---	---	---					
PABPC4	8761	broad.mit.edu	37	1	40038094	40038094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40038094delA	ENST00000372857.3	-	2	1150	c.358delT	c.(358-360)tctfs	p.S120fs	PABPC4_ENST00000372858.3_Frame_Shift_Del_p.S120fs|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.S120fs|PABPC4_ENST00000372856.3_Frame_Shift_Del_p.S120fs|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	120	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAAAAGCAGAAAAAGTATCA	0.343													12	516	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													11	1610	---	---	---	---					
WDR60	55112	broad.mit.edu	37	7	158704352	158704353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:158704352_158704353insA	ENST00000407559.3	+	12	1730_1731	c.1572_1573insA	c.(1573-1575)aaafs	p.K525fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	525										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAAACTTTGGGAAAAAAAATAC	0.332													16	92	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118373957	118373969	+	Frame_Shift_Del	DEL	GGAACCTGGTCAG	GGAACCTGGTCAG	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118373957_118373969delGGAACCTGGTCAG	ENST00000534358.1	+	27	7373_7385	c.7350_7362delGGAACCTGGTCAG	c.(7348-7362)ttggaacctggtcagfs	p.LEPGQ2450fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.LEPGQ2447fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.LEPGQ2409fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AATCTTTTTTGGAACCTGGTCAGGTGACAACTG	0.404													14	53	---	---	---	---					
TMBIM6	7009	broad.mit.edu	37	12	50156659	50156667	+	In_Frame_Del	DEL	AAGAAGAAA	AAGAAGAAA	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:50156659_50156667delAAGAAGAAA	ENST00000423828.1	+	10	1196_1204	c.868_876delAAGAAGAAA	c.(868-876)aagaagaaadel	p.KKK290del	TMBIM6_ENST00000552699.1_In_Frame_Del_p.KKK290del|TMBIM6_ENST00000547798.1_In_Frame_Del_p.KKK195del|TMBIM6_ENST00000549385.1_In_Frame_Del_p.KKK232del|TMBIM6_ENST00000267115.5_In_Frame_Del_p.KKK232del|TMBIM6_ENST00000395006.4_In_Frame_Del_p.KKK232del	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	232					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTAGGATAAGAAGAAAGAGAAGAAAT	0.397											OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	178	---	---	---	---					
GPR180	160897	broad.mit.edu	37	13	95273330	95273330	+	Splice_Site	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:95273330delA	ENST00000376958.4	+	6	761		c.e6-1			NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180							integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATGTCCCATTAGTTTTTGACA	0.333													42	54	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21828595	21828597	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:21828595_21828597delAAT	ENST00000216297.2	-	18	2490_2492	c.2152_2154delATT	c.(2152-2154)attdel	p.I718del		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	718					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTGCAAGACAATAATCATTTCT	0.404													17	98	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29337651	29337652	+	RNA	INS	-	-	CAGAG	rs140530121	by1000genomes	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:29337651_29337652insCAGAG	ENST00000398878.3	+	0	724																											CCCCGTTCACACCTGTTTCCTC	0.599													2	4	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47421942	47421949	+	Frame_Shift_Del	DEL	GCAAGAAA	GCAAGAAA	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47421942_47421949delGCAAGAAA	ENST00000404338.3	+	1	10_17	c.10_17delGCAAGAAA	c.(10-18)gcaagaaagfs	p.ARK4fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	4					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GATGATGATGGCAAGAAAGCAAGATGTC	0.486													9	161	---	---	---	---