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
AC096579.13	0	broad.mit.edu	37	2	89160267	89160267	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:89160267C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							AACTAATTTTCTATCCCTTAC	0.373000													3	12					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25599566	25599566	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:25599566T>C	ENST00000232165.3	-	11	2944	c.2288A>G	c.(2287-2289)gAt>gGt	p.D763G	UBE3A_ENST00000566215.1_Missense_Mutation_p.D743G|UBE3A_ENST00000397954.2_Missense_Mutation_p.D766G|UBE3A_ENST00000428984.2_Missense_Mutation_p.D743G|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.D743G	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	766					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCTTGGAAATCTAGATTCTG	0.363000													14	47					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231926974	231926974	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:231926974C>A	ENST00000308696.6	+	3	235	c.73C>A	c.(73-75)Cac>Aac	p.H25N	PSMD1_ENST00000373635.4_Missense_Mutation_p.H25N|PSMD1_ENST00000409643.1_Missense_Mutation_p.H25N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	25					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 regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATTTGCACTACACAAATTGAA	0.294000													3	25					1	1	1	1	0
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:7578457C>T	ENST00000420246.2	-	5	605	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			21	53					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133723133	133723133	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:133723133G>C	ENST00000523829.1	-	9	1031	c.910C>G	c.(910-912)Caa>Gaa	p.Q304E	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TAAAACACTTGATTCCAAGTA	0.343000													4	28					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100502272	100502272	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:100502272T>C	ENST00000279907.7	-	2	311	c.99A>G	c.(97-99)gaA>gaG	p.E33E	UHRF1BP1L_ENST00000356828.3_Silent_p.E33E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	33										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCAGTTCACCTTCTCCTTTAA	0.328000													10	56					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93558043	93558043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:93558043C>T	ENST00000394196.4	+	37	5878	c.4810C>T	c.(4810-4812)Cag>Tag	p.Q1604*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1604*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1604					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.Q1604*(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTCACCCTCAGAAGCCTCA	0.532000													21	192					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748326	10748326	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:10748326A>T	ENST00000586078.1	+	17	1707	c.1598A>T	c.(1597-1599)gAg>gTg	p.E533V	SLC44A2_ENST00000335757.5_Missense_Mutation_p.E533V|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E531V	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	533					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCAGCTGCAGAGAACAAGTTT	0.502000													15	86					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47879074	47879074	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:47879074G>T	ENST00000289672.2	-	36	5789	c.5739C>A	c.(5737-5739)acC>acA	p.T1913T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1913	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTGCAGACAGGTGAGCTCCC	0.657000													6	37					0.0215528	0.0218086	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140745616	140745616	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:140745616G>A	ENST00000518069.1	+	1	1719	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTTCCACGGGCGTGGAGC	0.617000													34	156					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371114	126371114	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:126371114T>C	ENST00000394329.3	+	9	8956	c.8943T>C	c.(8941-8943)ccT>ccC	p.P2981P	FAT4_ENST00000335110.5_Silent_p.P1279P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2981	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATGCACCTCAATTTCTTA	0.348000													8	50					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898920	175898920	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:175898920C>A	ENST00000359240.3	+	5	2914	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	ADAM29_ENST00000445694.1_Silent_p.S748S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.S748S|ADAM29_ENST00000514159.1_Silent_p.S748S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	748	9 X 9 AA approximate repeats.			S -> Y (in Ref. 2; AAF22163).	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGACGCCTTCCCAGAGTCATC	0.537000													17	98					2.5808e-16	2.91408e-16	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47930194	47930194	+	Missense_Mutation	SNP	C	C	T	rs147468517	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:47930194C>T	ENST00000289672.2	-	16	2671	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	874	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAAGAGTTCCGGCCACCACT	0.567000													8	119					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896573	89896573	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:89896573A>C	ENST00000534061.1	+	10	1401	c.1171A>C	c.(1171-1173)Agt>Cgt	p.S391R	NAALAD2_ENST00000321955.4_Missense_Mutation_p.S358R|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Missense_Mutation_p.S298R	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	391	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATTGCCCGGAGTTTTGGAAA	0.418000													17	121					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082333	16082333	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:16082333C>G	ENST00000281043.3	+	2	444	c.147C>G	c.(145-147)atC>atG	p.I49M	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	49					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGGAGGACATCTGGAAGAAGT	0.662000			A		neuroblastoma								4	35					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217715	150217715	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:150217715A>T	ENST00000313543.4	+	2	810	c.653A>T	c.(652-654)gAg>gTg	p.E218V		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	218							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAACGGGAAGAGGTTTTGAGG	0.378000													11	61					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413382	124413382	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:124413382G>A	ENST00000306842.2	-	1	193	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AAGTACATGGGAGTGTGCAGG	0.463000													20	51					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611263	53611263	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:53611263G>C	ENST00000342160.3	-	40	5501	c.5044C>G	c.(5044-5046)Ctc>Gtc	p.L1682V	HUWE1_ENST00000218328.8_Intron|HUWE1_ENST00000262854.6_Missense_Mutation_p.L1682V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1682					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCCTGAGGAGAGTCAGCATC	0.403000													7	58					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186383914	186383914	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:186383914G>A	ENST00000232003.4	+	1	174	c.94G>A	c.(94-96)Gag>Aag	p.E32K	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	32	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			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)		GCCGGAGGCTGAGAAAGCTCT	0.498000													30	51					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56997186	56997186	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:56997186G>C	ENST00000179765.5	-	19	3345	c.3146C>G	c.(3145-3147)tCt>tGt	p.S1049C	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S1051C|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1081C|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S1079C			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1081					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGGATGCTAGATGCTGTGGC	0.433000													9	33					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118464799	118464799	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:118464799C>G	ENST00000392542.2	+	9	1239	c.706C>G	c.(706-708)Caa>Gaa	p.Q236E	RFC5_ENST00000229043.3_Missense_Mutation_p.Q172E|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Missense_Mutation_p.Q257E	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	257					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGTTGAATCAAGATTTCAC	0.547000													46	124					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897155	175897155	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:175897155C>T	ENST00000359240.3	+	5	1149	c.479C>T	c.(478-480)tCa>tTa	p.S160L	ADAM29_ENST00000445694.1_Missense_Mutation_p.S160L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S160L|ADAM29_ENST00000514159.1_Missense_Mutation_p.S160L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	160					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAACAATTTTCAACCATGAGA	0.368000													9	64					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237972260	237972260	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:237972260C>A	ENST00000366574.2	+	100	14675	c.14358C>A	c.(14356-14358)ttC>ttA	p.F4786L	RYR2_ENST00000360064.6_Missense_Mutation_p.F4792L|RYR2_ENST00000542537.1_Missense_Mutation_p.F4770L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4786					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGCATTCAATTTTTTCC	0.363000													62	185					7.41606e-26	8.45778e-26	1	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817952	62817952	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:62817952C>A	ENST00000582986.1	-	0	546					NR_024386.1																						GACATGGGCTCCTCGCAATGG	0.557000													6	24					0.000274275	0.000286018	1	1	0
FBN3	84467	broad.mit.edu	37	19	8151193	8151193	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:8151193G>T	ENST00000600128.1	-	55	7185	c.6771C>A	c.(6769-6771)caC>caA	p.H2257Q	FBN3_ENST00000270509.2_Missense_Mutation_p.H2257Q|FBN3_ENST00000601739.1_Missense_Mutation_p.H2257Q			Q75N90	FBN3_HUMAN	fibrillin 3	2257	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGCTGAGCGTGGCATTCAT	0.647000													16	123					1.15088e-07	1.26189e-07	1	1	0
PRDM13	59336	broad.mit.edu	37	6	100061944	100061944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:100061944C>T	ENST00000369215.4	+	4	1738	c.1433C>T	c.(1432-1434)gCt>gTt	p.A478V		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCACCACCGCTTATTACCCG	0.637000													4	63					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495618	94495618	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr9:94495618C>A	ENST00000375708.3	-	6	921	c.723G>T	c.(721-723)gcG>gcT	p.A241A	ROR2_ENST00000375715.1_Silent_p.A101A|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	241	FZ.				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			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						TCCGGGAGCGCGCGTCGCACA	0.652000													14	15					1.5842e-08	1.77119e-08	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52287282	52287282	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:52287282G>A	ENST00000356297.4	-	18	3667	c.3567C>T	c.(3565-3567)ggC>ggT	p.G1189G	PXDNL_ENST00000543296.1_Silent_p.G1189G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1189					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTGGAGAGCCGTACAACC	0.473000													14	26					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218480886	218480886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:218480886C>G	ENST00000366932.3	+	4	647	c.617C>G	c.(616-618)tCc>tGc	p.S206C		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	206						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TCAACTGTTTCCAAGAAAGAT	0.358000													3	44					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143575	69143575	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:69143575G>T	ENST00000306560.1	+	2	433	c.277G>T	c.(277-279)Gca>Tca	p.A93S	HAS3_ENST00000569188.1_Missense_Mutation_p.A93S|HAS3_ENST00000219322.3_Missense_Mutation_p.A93S	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	93					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCATTGCCGCATACCAGGA	0.667000													9	40					0.000442599	0.000458743	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	37					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845227	105845227	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:105845227T>C	ENST00000393127.2	+	16	3046	c.2600T>C	c.(2599-2601)tTa>tCa	p.L867S	GRIA4_ENST00000525187.1_Missense_Mutation_p.L867S|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Intron	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	0					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACCCAGAATTTAGCAACCTAT	0.448000													30	37					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37699296	37699296	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr22:37699296C>T	ENST00000248901.6	+	8	736	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	183	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCTCCGCAGACACCTGCTACG	0.617000													17	98					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54186019	54186019	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:54186019C>T	ENST00000375180.2	-	2	786	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	FAM120C_ENST00000328235.4_Missense_Mutation_p.E244K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	244										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCACCACTTCCAAATGGTGG	0.463000													12	52					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31675047	31675047	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:31675047G>A	ENST00000399332.1	-	2	584	c.96C>T	c.(94-96)tgC>tgT	p.C32C	HECTD1_ENST00000553700.1_Silent_p.C32C|HECTD1_ENST00000556474.1_5'UTR	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	32					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAGCAGCATGCATAGCTGTT	0.438000													12	64					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107754479	107754479	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:107754479G>A	ENST00000445937.1	+	14	2526	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	OXR1_ENST00000517566.2_Silent_p.L782L|OXR1_ENST00000521592.1_Silent_p.L28L|OXR1_ENST00000442977.2_Silent_p.L783L|OXR1_ENST00000452423.2_Silent_p.L203L|OXR1_ENST00000531443.1_Silent_p.L755L|OXR1_ENST00000449762.2_Silent_p.L125L|OXR1_ENST00000312046.6_Silent_p.L748L|OXR1_ENST00000297447.6_Silent_p.L152L	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	783	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTGAGCCACTGAAAGTGAGTG	0.338000													9	56					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71374610	71374610	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:71374610G>A	ENST00000304743.2	+	1	489	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PCNX_ENST00000238570.5_Missense_Mutation_p.A15T|PCNX_ENST00000439984.3_Missense_Mutation_p.A15T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	15						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGGGTGTGGGCCGCGCTCAG	0.751000													4	9					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865756	47865756	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:47865756C>T	ENST00000396105.1	-	14	4051	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1269K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1269							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGTGGGTTTCAGGGTGGTTC	0.557000													10	140					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750315	6750315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:6750315G>T	ENST00000600428.1	+	12	1562	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313244.9_Nonsense_Mutation_p.E470*|TRIP10_ENST00000313285.8_Nonsense_Mutation_p.E414*|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.E414*			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	470	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GTGGCTGGCAGAAGCTGAAAG	0.667000													15	85					1.67942e-08	1.86541e-08	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724730	7724730	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:7724730G>T	ENST00000303635.7	+	9	2330	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G708V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCAAGTCTGGGGAGCTGCAG	0.657000			T	WWTR1	epitheliod hemangioendothelioma								7	61					0.0293803	0.0296411	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84685095	84685095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:84685095A>C	ENST00000284136.6	-	7	842	c.799T>G	c.(799-801)Tca>Gca	p.S267A	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S267A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	267	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTGAGATGATTCACGAAAG	0.318000													16	35					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35047314	35047314	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:35047314G>A	ENST00000360359.3	+	15	2443	c.2305G>A	c.(2305-2307)Ggg>Agg	p.G769R	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	769						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGTTATGACGGGAACAGCCC	0.597000													7	42					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791238	237791238	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:237791238C>A	ENST00000366574.2	+	41	6615	c.6298C>A	c.(6298-6300)Cgg>Agg	p.R2100R	RYR2_ENST00000360064.6_Silent_p.R2098R|RYR2_ENST00000542537.1_Silent_p.R2084R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2100	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGTCTTGTTCGGGCCCTGCC	0.572000													9	31					1.76689e-08	1.9562e-08	1	1	0
RFC5	5985	broad.mit.edu	37	12	118469031	118469031	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:118469031C>G	ENST00000392542.2	+	12	1441	c.908C>G	c.(907-909)tCc>tGc	p.S303C	RFC5_ENST00000229043.3_Missense_Mutation_p.S239C|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Missense_Mutation_p.S324C	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	324					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGAGCTCCCTCATTGCT	0.493000													16	62					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23115017	23115017	+	RNA	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr22:23115017G>C	ENST00000390313.2	+	0	298																											CAGCAGGATCGAGGCTGGGGA	0.562000													6	16					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18851057	18851057	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:18851057G>C	ENST00000446231.2	-	42	7320	c.6908C>G	c.(6907-6909)tCt>tGt	p.S2303C	SMG1_ENST00000389467.3_Missense_Mutation_p.S2303C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2303	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTGCAAGATGACCAGAG	0.473000													7	88					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92511153	92511153	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:92511153C>T	ENST00000370383.4	+	4	638	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	180						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TAATTGCCATCTGTTATCCTG	0.353000													6	71					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362399	83362399	+	Silent	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:83362399A>T	ENST00000296591.5	-	7	1096	c.678T>A	c.(676-678)gtT>gtA	p.V226V	EDIL3_ENST00000380138.3_Silent_p.V216V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	226	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCACACCAGTAACTCTCATTT	0.353000													10	55					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135107418	135107418	+	Silent	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:135107418A>G	ENST00000409645.1	+	10	1407	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	MGAT5_ENST00000281923.2_Silent_p.E385E			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	385					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CTGAACCCGAATTTAATCATG	0.423000													7	83					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138982560	138982560	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:138982560A>C	ENST00000473989.3	+	18	4022	c.4022A>C	c.(4021-4023)aAa>aCa	p.K1341T	UBN2_ENST00000288561.8_Missense_Mutation_p.K1258T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGGGACACTAAATTACCACGG	0.398000													16	47					0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743614	38743614	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:38743614C>T	ENST00000591585.1	-	2	394	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PPP1R14A_ENST00000587515.1_5'UTR|PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000301242.4_Splice_Site_p.E68K|PPP1R14A_ENST00000591291.1_Splice_Site_p.E68K			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	68	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGTCTGCCTCCTAGGGCCAG	0.612000													23	162					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992421	96992421	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:96992421G>A	ENST00000361124.4	+	1	487	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A10T|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A18T|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A10T	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	18						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCTTGGCAGTGATGTA	0.522000													8	94					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863297	154863297	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:154863297C>A	ENST00000287907.2	+	1	1264	c.688C>A	c.(688-690)Cgc>Agc	p.R230S		NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	230						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCCAAGTTCCGCGTGGGCTC	0.542000													12	39					1.49906e-05	1.61766e-05	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14827676	14827676	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:14827676G>C	ENST00000261170.3	-	8	1103	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	323					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAATAGGCAAGAGCAAAGTCT	0.358000													13	95					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7510047	7510047	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:7510047C>T	ENST00000313599.3	-	19	4372	c.4315G>A	c.(4315-4317)Gac>Aac	p.D1439N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D1407N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D1449N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1439						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1439N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCGATGTGTCGCTAGCATCT	0.443000													14	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675543	100675543	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:100675543C>A	ENST00000306151.4	+	3	910	c.846C>A	c.(844-846)ctC>ctA	p.L282L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	282	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATGCCTCTCAGCGTGATGC	0.502000													21	235					2.27731e-05	2.44972e-05	1	1	0
RRN3	54700	broad.mit.edu	37	16	15188060	15188060	+	Missense_Mutation	SNP	G	G	A	rs139679899	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:15188060G>A	ENST00000198767.6	-	1	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RRN3_ENST00000563559.1_Missense_Mutation_p.P11S|RRN3_ENST00000429751.2_Missense_Mutation_p.P11S|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000564131.1_Missense_Mutation_p.P11S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	11					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		p.P11S(3)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCATCTCCCGGCAAACGCGTG	0.637000													4	8					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791925	37791925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:37791925G>T	ENST00000254079.4	+	6	980	c.511G>T	c.(511-513)Gag>Tag	p.E171*	PPP1R1B_ENST00000394265.1_Nonsense_Mutation_p.E135*|PPP1R1B_ENST00000579000.1_Nonsense_Mutation_p.E138*|PPP1R1B_ENST00000580825.1_Nonsense_Mutation_p.E171*|PPP1R1B_ENST00000394267.2_Nonsense_Mutation_p.E135*	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	171					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCTCTGGATGAGTCCGAGAG	0.587000													14	95					1.49906e-05	1.61766e-05	1	1	0
CORO1A	11151	broad.mit.edu	37	16	30199132	30199132	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:30199132C>A	ENST00000219150.5	+	7	1148	c.843C>A	c.(841-843)atC>atA	p.I281I	CORO1A_ENST00000570045.1_Silent_p.I281I|CORO1A_ENST00000565497.1_Silent_p.I281I	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	281					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACACCAACATCGTCTACCTCT	0.652000													4	31					0.00024832	0.000259746	1	1	0
LRRC31	79782	broad.mit.edu	37	3	169574601	169574601	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:169574601C>T	ENST00000316428.5	-	4	604	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	LRRC31_ENST00000264676.5_Missense_Mutation_p.V127M|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.V183M	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	183										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTCCTCCCACTTTACTGTTC	0.423000													18	101					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383120	22383120	+	Silent	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:22383120T>G	ENST00000328795.4	+	1	739	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTTCTGGCTTCCTATGCAG	0.502000													7	84					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092377	13092377	+	Splice_Site	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr18:13092377A>G	ENST00000506447.1	+	34	6185	c.6105A>G	c.(6103-6105)gtA>gtG	p.V2035V	CEP192_ENST00000430049.2_Splice_Site_p.V1560V|CEP192_ENST00000325971.8_Splice_Site_p.V1439V|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1630										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTATTTCAGTATATGATCTTC	0.294000													8	30					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85431057	85431057	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:85431057G>A	ENST00000394573.1	+	3	268	c.66G>A	c.(64-66)gaG>gaA	p.E22E	SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000537624.1_Silent_p.E22E|SLC28A1_ENST00000537216.1_Silent_p.E22E|SLC28A1_ENST00000538177.1_Silent_p.E22E|SLC28A1_ENST00000286749.3_Silent_p.E22E|SLC28A1_ENST00000338602.2_Silent_p.E22E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	22					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGTCTGGAGAACATGGGGG	0.567000													6	60					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389975	82389975	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:82389975G>A	ENST00000333891.9	-	24	15605	c.15268C>T	c.(15268-15270)Cct>Tct	p.P5090S		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCTGCAGGACTTAGACTG	0.313000													4	81					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815207	95815207	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:95815207C>G	ENST00000295208.2	-	5	1485	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D	ZNF514_ENST00000411425.1_Missense_Mutation_p.E341D	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGTAAGGTTTCTCTCCAGTAT	0.433000													8	53					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186614	50186614	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:50186614G>C	ENST00000335999.6	-	11	3697	c.3496C>G	c.(3496-3498)Ctt>Gtt	p.L1166V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1162	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTTGGTAAGGGGTGGGGGC	0.672000													3	13					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26994232	26994232	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr10:26994232C>A	ENST00000376215.5	+	4	298	c.245C>A	c.(244-246)cCa>cAa	p.P82Q	PDSS1_ENST00000376203.5_Missense_Mutation_p.P82Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	82					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CACACAACCCCAGACAGTAAA	0.368000													5	40					0.014758	0.0149776	1	1	0
GLG1	2734	broad.mit.edu	37	16	74537566	74537566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:74537566C>A	ENST00000422840.2	-	4	636	c.637G>T	c.(637-639)Gag>Tag	p.E213*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.E213*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.E202*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	213						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACTGATACTCAGTGATGTTG	0.413000													12	85					0.00010058	0.000106515	1	1	0
BCOR	54880	broad.mit.edu	37	X	39911436	39911436	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:39911436C>T	ENST00000342274.4	-	15	5454	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	BCOR_ENST00000397354.3_Missense_Mutation_p.E1698K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1680K|BCOR_ENST00000378463.1_Missense_Mutation_p.E575K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1732K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1732					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.E1698*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCTGAATTTCGTTCGTGAAT	0.517000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	28					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717996	72717996	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:72717996G>C	ENST00000428206.1	-	8	871	c.858C>G	c.(856-858)ggC>ggG	p.G286G	NSUN5_ENST00000438747.2_Silent_p.G324G|NSUN5_ENST00000252594.6_Silent_p.G324G|NSUN5_ENST00000310326.8_Silent_p.G324G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	324	S-adenosyl-L-methionine binding.						methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GGCTAGGTGTGCCTGCCCCGG	0.607000													5	59					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374380	118374380	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:118374380T>A	ENST00000534358.1	+	27	7796	c.7773T>A	c.(7771-7773)taT>taA	p.Y2591*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Y2550*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Y2588*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTAACAACTATCAGAATCTTC	0.493000													31	27					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189406	29189406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:29189406C>T	ENST00000234961.2	+	3	972	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	244					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.R244C(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)	GCGCAGTGTGCGCCTGCTGTC	0.642000													6	37					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69682876	69682876	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr10:69682876G>A	ENST00000395198.3	-	26	3233	c.2986C>T	c.(2986-2988)Cgc>Tgc	p.R996C	HERC4_ENST00000412272.2_Missense_Mutation_p.R918C|HERC4_ENST00000373700.4_Missense_Mutation_p.R988C|HERC4_ENST00000277817.6_Missense_Mutation_p.R886C|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	996	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ATAGGAATGCGATCACTACCT	0.393000													9	102					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771829	72771829	+	Missense_Mutation	SNP	C	C	G	rs149888041		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:72771829C>G	ENST00000261180.4	+	3	1204	c.1108C>G	c.(1108-1110)Ctc>Gtc	p.L370V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	370					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGACTATGCTCTCCATATAAC	0.323000													14	79					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37793258	37793258	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:37793258G>T	ENST00000307599.4	-	7	992	c.893C>A	c.(892-894)aCc>aAc	p.T298N	GOT1L1_ENST00000518826.1_Missense_Mutation_p.T39N	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	298					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GAGGATGGAGGTGATGACACG	0.612000													146	28					2.6563e-64	3.04982e-64	1	1	0
AAR2	25980	broad.mit.edu	37	20	34827931	34827931	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:34827931C>T	ENST00000373932.3	+	2	487	c.141C>T	c.(139-141)ggC>ggT	p.G47G	AAR2_ENST00000320849.4_Silent_p.G47G|AAR2_ENST00000397286.3_Silent_p.G47G	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AGTTCCGGGGCGTGAAGATGA	0.542000													8	44					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007110	94007110	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:94007110A>T	ENST00000553484.1	+	13	1611	c.1457A>T	c.(1456-1458)gAc>gTc	p.D486V	UNC79_ENST00000393151.2_Missense_Mutation_p.D486V|UNC79_ENST00000555664.1_Missense_Mutation_p.D486V|UNC79_ENST00000256339.4_Missense_Mutation_p.D309V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	486						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATAATGCTGACTTTGATAAC	0.473000													11	62					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48832431	48832431	+	Splice_Site	SNP	G	G	T	rs144855492	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:48832431G>T	ENST00000376441.1	-	24	2311	c.2277C>A	c.(2275-2277)atC>atA	p.I759I	GRIPAP1_ENST00000376425.3_Splice_Site_p.I728I|GRIPAP1_ENST00000376444.3_Splice_Site_p.I714I	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	759						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GACACTGACCGATCCGGCTGT	0.617000													7	31					0.000157383	0.000165641	1	1	0
GRHL1	29841	broad.mit.edu	37	2	10126289	10126289	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:10126289C>T	ENST00000324907.9	+	9	1284	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	GRHL1_ENST00000324883.5_Missense_Mutation_p.S194F|GRHL1_ENST00000405379.2_Missense_Mutation_p.S383F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	383					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			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)		ACAGATTTCTCTTCCCAGAAG	0.488000													38	260					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930789	144930789	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:144930789C>T	ENST00000529945.1	-	1	1359	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R307Q|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTGCTCCCTCGGGGGCTCTG	0.507000			T	PDGFRB	MPD								13	164					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366921	248366921	+	Silent	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:248366921A>G	ENST00000456743.1	+	1	590	c.552A>G	c.(550-552)ctA>ctG	p.L184L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCCCTCCCTACTAATCCTCT	0.413000													56	174					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186799	123186799	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:123186799C>T	ENST00000328880.5	-	1	1091	c.1032G>A	c.(1030-1032)gcG>gcA	p.A344A	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	344					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TGGCCATTAACGCCTCTGGAG	0.562000													27	185					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404605	113404605	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:113404605G>A	ENST00000272542.3	+	2	739	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	67					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ATCCTAGCTAGCATCTTTGAA	0.517000													9	29					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340939	39340939	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:39340939C>T	ENST00000398472.1	-	1	655	c.168G>A	c.(166-168)caG>caA	p.Q56Q				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	56	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAAGTGGTCTGGCAGCAGG	0.657000													7	44					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71800140	71800140	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:71800140G>A	ENST00000324866.7	+	3	177	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	LRTOMT_ENST00000289488.2_Missense_Mutation_p.R4Q|LRTOMT_ENST00000539271.1_Intron|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000423494.2_Intron|LRTOMT_ENST00000447974.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000439209.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000541614.1_Missense_Mutation_p.R4Q|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000536917.1_Missense_Mutation_p.R4Q			Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	4						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						ATGAACAAACGGGACTATATG	0.522000													4	85					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171521	124171521	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:124171521C>G	ENST00000303372.5	+	6	831	c.703C>G	c.(703-705)Ctg>Gtg	p.L235V	TCTN2_ENST00000426174.2_Missense_Mutation_p.L234V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	235					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTTTCCCTTTCTGTGTGTGCA	0.557000													36	277					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50154451	50154451	+	Silent	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:50154451C>G	ENST00000284509.6	-	27	3429	c.3288G>C	c.(3286-3288)ctG>ctC	p.L1096L	ATP8B4_ENST00000559829.1_Silent_p.L1096L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1096					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTGATCACTCAGGGTTGGGT	0.448000													9	57					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170513955	170513955	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:170513955G>A	ENST00000367763.3	+	4	726	c.706G>A	c.(706-708)Gat>Aat	p.D236N	GORAB_ENST00000367762.1_Missense_Mutation_p.D236N	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	236	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAACCGGATTGATCAGGCCAG	0.443000													23	206					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2225398	2225398	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:2225398A>T	ENST00000398665.3	+	26	3644	c.3608A>T	c.(3607-3609)aAa>aTa	p.K1203I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1203						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGAGAGAAAAATTGCAACA	0.458000													22	72					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36518043	36518043	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:36518043G>A	ENST00000360535.4	-	3	524	c.297C>T	c.(295-297)atC>atT	p.I99I	CLIP3_ENST00000593074.1_Silent_p.I99I|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	99					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTCATTGCCGATGACGTCTA	0.592000													4	60					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810801	140810801	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:140810801G>C	ENST00000509479.2	-	2	2645	c.1789C>G	c.(1789-1791)Ctg>Gtg	p.L597V	MAML3_ENST00000327122.5_Missense_Mutation_p.L441V|MAML3_ENST00000398940.1_Missense_Mutation_p.L125V	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	593	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCATAAGTCAGAATATTGTGC	0.443000													52	307					0	0	1	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720845	31720845	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr21:31720845C>A	ENST00000334160.4	-	1	79	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	27						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						CGAGGAGCCACCACGGGAGTA	0.557000													28	52					7.76418e-22	8.82529e-22	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350406	50350406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:50350406C>T	ENST00000376020.2	-	6	3761	c.3736G>A	c.(3736-3738)Gga>Aga	p.G1246R	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1130R|SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1246R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1246	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTTCCTGTCCCGATGTCCTC	0.488000													4	37					0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26765126	26765126	+	Silent	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:26765126A>G	ENST00000345317.2	-	9	1030	c.717T>C	c.(715-717)gaT>gaC	p.D239D	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Silent_p.D67D	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	239					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GATGATCAACATCATCATATA	0.318000													17	29					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69549359	69549359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:69549359C>G	ENST00000374403.3	+	8	965	c.883C>G	c.(883-885)Cga>Gga	p.R295G	KIF4A_ENST00000374388.3_Missense_Mutation_p.R295G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	295	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAGTTGACTCGACTGCTTCA	0.423000													9	54					0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153293475	153293475	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:153293475G>C	ENST00000367241.3	-	4	1266	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Q342E	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	342	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AACTTGGTTTGAGCATCTTTT	0.368000													13	64					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503228	110503228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:110503228C>T	ENST00000378402.5	+	61	10116	c.10012C>T	c.(10012-10014)Cga>Tga	p.R3338*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3338					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)			ATCTTATATTCGAGGCTGTGC	0.343000										HNSCC(38;0.096)			23	49					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615114	615114	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:615114C>T	ENST00000409413.3	+	3	1802	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	508										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCCCTGCAGCGCCCCAACCC	0.716000													5	19					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184772	130184772	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:130184772C>T	ENST00000422113.2	-	2	877	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCCTGCAGCCGGCAGCTGCC	0.692000													8	36					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267761	46267761	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:46267761G>C	ENST00000372004.3	+	14	2738	c.2522G>C	c.(2521-2523)aGt>aCt	p.S841T	NCOA3_ENST00000371997.3_Missense_Mutation_p.S851T|NCOA3_ENST00000371998.3_Missense_Mutation_p.S841T|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	841					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTTTGAAAAGTTCACAGTCT	0.383000													11	105					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104752891	104752891	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:104752891C>G	ENST00000334877.4	+	26	5096	c.4562C>G	c.(4561-4563)tCt>tGt	p.S1521C	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1563C|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1563C|KMT2E_ENST00000334914.7_Intron					lysine (K)-specific methyltransferase 2E																		CAGCAGCCCTCTGCAAACTTT	0.463000													16	116					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143576	69143576	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:69143576C>T	ENST00000306560.1	+	2	434	c.278C>T	c.(277-279)gCa>gTa	p.A93V	HAS3_ENST00000569188.1_Missense_Mutation_p.A93V|HAS3_ENST00000219322.3_Missense_Mutation_p.A93V	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	93					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCATTGCCGCATACCAGGAG	0.667000													9	40					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447616	82447616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:82447616C>T	ENST00000370728.1	+	21	3871	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*	LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q1078*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q1078*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q1001*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q1063*			O95490	LPHN2_HUMAN	latrophilin 2	1076					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATGCTTTCCAGGGAGTGTT	0.378000													8	70					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56143467	56143467	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:56143467C>T	ENST00000257868.5	+	3	1062	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	342					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						AACTACTGCTCCGGCCAGTGC	0.572000													29	152					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078593	10078593	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:10078593G>A	ENST00000264828.3	-	61	4476	c.4391C>T	c.(4390-4392)tCa>tTa	p.S1464L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1464	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGACCCTTTTGAGCCTTTCTG	0.587000													13	96					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132399773	132399773	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:132399773C>G	ENST00000321867.4	+	17	1870	c.1519C>G	c.(1519-1521)Caa>Gaa	p.Q507E		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	507					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			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)		GCCATCTCCTCAAGGTGCGCC	0.662000													5	10					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37388581	37388581	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:37388581G>A	ENST00000338564.5	-	4	742	c.296C>T	c.(295-297)gCg>gTg	p.A99V	MEIS2_ENST00000561208.1_Missense_Mutation_p.A99V|MEIS2_ENST00000444725.1_Missense_Mutation_p.A99V|MEIS2_ENST00000559561.1_Missense_Mutation_p.A99V|MEIS2_ENST00000559085.1_Missense_Mutation_p.A86V|MEIS2_ENST00000340545.5_Missense_Mutation_p.A86V|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.A86V|MEIS2_ENST00000397624.3_Missense_Mutation_p.A11V|MEIS2_ENST00000424352.2_Missense_Mutation_p.A99V|MEIS2_ENST00000397620.2_Missense_Mutation_p.A11V|MEIS2_ENST00000382766.2_Missense_Mutation_p.A99V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	99					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			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)		AGTGCAGGTCGCCAGCTCGCA	0.622000													11	45					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43982208	43982208	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr21:43982208G>A	ENST00000352133.2	+	12	1984	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	SLC37A1_ENST00000398341.3_Silent_p.L334L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	334					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AGTTCTCACTGTGTCTGCTGT	0.473000													15	106					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599852	3599852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:3599852G>T	ENST00000302006.3	+	2	842	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCTTGCCCGGGACCAAGGCTC	0.687000													4	31					0.00024832	0.000259746	1	1	0
OR56B4	196335	broad.mit.edu	37	11	6129076	6129076	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:6129076T>A	ENST00000316529.3	+	1	163	c.68T>A	c.(67-69)tTa>tAa	p.L23*		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGGATTACCAGGCATT	0.512000													22	39					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54387438	54387438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:54387438C>T	ENST00000263431.3	+	3	508	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PRKCG_ENST00000542049.1_5'UTR|PRKCG_ENST00000536044.1_Nonsense_Mutation_p.R76*|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.R76*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	76					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGTTCATCGACGATGCCACGA	0.567000													24	60					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23811886	23811886	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:23811886A>T	ENST00000354639.3	+	15	2349	c.1885A>T	c.(1885-1887)Aat>Tat	p.N629Y	STK31_ENST00000428484.1_Missense_Mutation_p.N629Y|STK31_ENST00000433467.2_Missense_Mutation_p.N652Y|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.N652Y	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	652							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGAAAAGAGTAATTTGGAAGA	0.328000													37	60					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27137084	27137084	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr21:27137084C>T	ENST00000354828.3	+	9	1649	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	GABPA_ENST00000400075.3_Silent_p.L374L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	374					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ATGAGAAACTCAGTCGTGCAT	0.338000													5	62					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745164	50745164	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:50745164T>C	ENST00000300589.2	+	4	1447	c.1342T>C	c.(1342-1344)Tct>Cct	p.S448P		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	448	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAAGGGCTTCTCTGAACAGGG	0.637000													17	94					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158567876	158567876	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:158567876G>C	ENST00000367102.2	-	6	566	c.425C>G	c.(424-426)tCa>tGa	p.S142*	SERAC1_ENST00000607000.1_Nonsense_Mutation_p.S142*|SERAC1_ENST00000367104.3_Nonsense_Mutation_p.S142*|SERAC1_ENST00000367101.1_Nonsense_Mutation_p.S142*			Q96JX3	SRAC1_HUMAN	serine active site containing 1	142					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TTTGTCATCTGACTTGCTCTT	0.478000													16	128					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492719	149492719	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:149492719C>T	ENST00000378016.2	+	0	6499							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCATGACTATCGTGACCTCCT	0.597000													5	273					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15341819	15341819	+	Silent	SNP	G	G	T	rs144077872		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:15341819G>T	ENST00000221730.3	-	4	790	c.570C>A	c.(568-570)gtC>gtA	p.V190V	EPHX3_ENST00000602233.1_Silent_p.V190V|EPHX3_ENST00000435261.1_Silent_p.V190V	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	190						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCATCCGCTCGACCAGGGATG	0.577000													13	40					9.31168e-06	1.01124e-05	1	1	0
MLH1	4292	broad.mit.edu	37	3	37089167	37089167	+	Missense_Mutation	SNP	T	T	C	rs63751639		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:37089167T>C	ENST00000231790.2	+	16	2105	c.1889T>C	c.(1888-1890)aTt>aCt	p.I630T	MLH1_ENST00000458205.2_Missense_Mutation_p.I389T|MLH1_ENST00000536378.1_Missense_Mutation_p.I389T|MLH1_ENST00000435176.1_Missense_Mutation_p.I532T|MLH1_ENST00000455445.2_Missense_Mutation_p.I389T|MLH1_ENST00000539477.1_Missense_Mutation_p.I389T	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	630	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCTTTGGAAATTGATGAGGTG	0.438000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				24	144					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186276	50186276	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:50186276G>A	ENST00000335999.6	-	12	3946	c.3745C>T	c.(3745-3747)Ctc>Ttc	p.L1249F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1245	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGCACATGAGAGGGTCCGAG	0.627000													3	28					0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717724	2717724	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:2717724G>A	ENST00000323469.4	-	2	264	c.81C>T	c.(79-81)ttC>ttT	p.F27F	DIRAS1_ENST00000585334.1_Silent_p.F27F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	27					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCTTCACGAAGCGCAGCA	0.652000													12	46					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756736	54756736	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:54756736G>A	ENST00000450632.1	-	9	1522	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	LILRB5_ENST00000449561.2_Missense_Mutation_p.S491L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S490L|LILRB5_ENST00000345866.6_Missense_Mutation_p.S391L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	490					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTACTCACCCGATGTCCTGTG	0.597000													19	152					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70786834	70786834	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:70786834G>C	ENST00000358731.4	+	11	1779	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	506					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAGGCCTGAGCTAAAGGA	0.368000													13	46					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023670	32023670	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:32023670C>G	ENST00000375244.3	-	24	8626	c.8425G>C	c.(8425-8427)Gag>Cag	p.E2809Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2809Q			P22105	TENX_HUMAN	tenascin XB	2867	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E2896*(1)|p.E2809*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCGCCCCTCGTGGAGGCCG	0.637000													9	74					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95934283	95934283	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:95934283C>T	ENST00000334258.5	-	2	180	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E56K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E56K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						ACACGCCCCTCGGGCTCCAGC	0.602000													7	37					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43986079	43986079	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:43986079C>T	ENST00000282406.4	+	27	4092	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1328	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATGGCCCTCCGGGGACACAG	0.423000													9	51					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913087	2913087	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr18:2913087T>C	ENST00000254528.3	+	8	3006	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	949	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCCTTATGATGGGCGCTACC	0.632000													7	48					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399668	47399668	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:47399668C>G	ENST00000310638.4	-	9	1203	c.1172G>C	c.(1171-1173)aGa>aCa	p.R391T	CYP4A11_ENST00000462347.1_Missense_Mutation_p.R293T|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R391T|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R392T|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000496519.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	391					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGAGCTCTCTGCCAATGCC	0.577000													6	43					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235391	81235391	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:81235391C>G	ENST00000394685.3	+	28	4224	c.3805C>G	c.(3805-3807)Ctg>Gtg	p.L1269V	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L1269V|KIAA1199_ENST00000220244.3_Missense_Mutation_p.L1269V			Q8WUJ3	K1199_HUMAN	KIAA1199	1269										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACTCCATTCTGCAAGGCAT	0.557000													51	329					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067798	60067798	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:60067798C>T	ENST00000505959.1	-	6	674	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ELOVL7_ENST00000438340.1_Missense_Mutation_p.E63K|ELOVL7_ENST00000425382.1_Missense_Mutation_p.E63K|ELOVL7_ENST00000508821.1_Missense_Mutation_p.E63K			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	63					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTCTTGAGTTCAAAGGGCTTG	0.408000													3	26					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517131	36517131	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:36517131G>C	ENST00000360535.4	-	6	826	c.599C>G	c.(598-600)tCa>tGa	p.S200*	CLIP3_ENST00000593074.1_Nonsense_Mutation_p.S200*|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	200					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGCAGGGCTGAGCCGTGGTT	0.662000													14	86					0	0	1	0	0
GRB2	2885	broad.mit.edu	37	17	73322005	73322005	+	Silent	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:73322005A>T	ENST00000392562.1	-	4	1055	c.273T>A	c.(271-273)gcT>gcA	p.A91A	GRB2_ENST00000316615.5_Intron|GRB2_ENST00000392564.1_Silent_p.A91A|GRB2_ENST00000392563.1_Intron|GRB2_ENST00000316804.5_Silent_p.A91A|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Silent_p.A91A			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	91	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	AGTCCCCAGGAGCGCTCTCAC	0.507000													15	103					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052286	55052286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:55052286G>C	ENST00000330807.5	-	2	285	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	ALAS2_ENST00000335854.4_Missense_Mutation_p.Q50E|ALAS2_ENST00000396198.3_Missense_Mutation_p.Q74E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	50					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGGTGGATTTGAGAACAGTTT	0.507000													10	55					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17435009	17435009	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:17435009C>T	ENST00000302539.4	-	20	2535	c.2410G>A	c.(2410-2412)Gaa>Aaa	p.E804K	ABCC8_ENST00000389817.3_Missense_Mutation_p.E803K	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	803	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GAGCAGGCTTCAATGACCATC	0.567000													38	64					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109895713	109895713	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:109895713G>A	ENST00000399132.1	-	7	971	c.441C>T	c.(439-441)ggC>ggT	p.G147G	COL25A1_ENST00000399126.1_Silent_p.G147G|COL25A1_ENST00000399127.1_Silent_p.G147G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	147	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GACCAGGAGGGCCCTGAAAAA	0.323000													6	65					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68660882	68660882	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:68660882G>A	ENST00000328663.4	-	3	1149	c.683C>T	c.(682-684)aCt>aTt	p.T228I	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.T228I|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.T228I	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CATCATATTAGTGGTAATAAG	0.358000													12	40					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226753	87226753	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:87226753T>C	ENST00000297524.3	-	4	1405	c.1302A>G	c.(1300-1302)ctA>ctG	p.L434L	SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	434						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATGTAAAATAGTAATCCGC	0.353000													17	32					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16025230	16025230	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:16025230C>G	ENST00000402914.1	+	13	1003	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000378058.3_Missense_Mutation_p.Q181E|MACROD2_ENST00000407045.3_Missense_Mutation_p.Q67E|MACROD2_ENST00000310348.4_Missense_Mutation_p.Q416E	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	416	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AATGAATAGTCAGGTTGACAA	0.338000													5	35					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773308	140773308	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:140773308G>A	ENST00000398604.2	+	1	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGATTATGAAGAATGTTC	0.363000													12	117					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48740973	48740973	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:48740973G>A	ENST00000448928.3	-	3	393	c.338C>T	c.(337-339)tCg>tTg	p.S113L	ZNF641_ENST00000301042.3_Intron|ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000547026.1_Intron	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN	zinc finger protein 641	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GGGCTGATGCGAAAGCAATAC	0.488000													3	25					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368269	37368269	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:37368269C>G	ENST00000361924.2	+	14	5266	c.4892C>G	c.(4891-4893)tCa>tGa	p.S1631*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S1653*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1631	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCTTGAGTCAGAAAGTGCT	0.353000													9	112					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441828	114441828	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:114441828G>T	ENST00000375478.3	-	6	1647	c.1467C>A	c.(1465-1467)gaC>gaA	p.D489E	NXPE4_ENST00000424261.2_Missense_Mutation_p.D205E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AACCATGAAAGTCACTAAATC	0.378000													27	61					2.14196e-07	2.34105e-07	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196640662	196640662	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:196640662C>T	ENST00000312428.6	-	60	11210	c.11110G>A	c.(11110-11112)Gca>Aca	p.A3704T	DNAH7_ENST00000409063.1_Missense_Mutation_p.A187T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3704					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCTGGTGCTGGGGTCAGT	0.403000													10	51					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902506	52902506	+	Missense_Mutation	SNP	T	T	C	rs78125257	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:52902506T>C	ENST00000261844.7	-	6	757	c.605A>G	c.(604-606)aAt>aGt	p.N202S	FAM214A_ENST00000546305.2_Missense_Mutation_p.N209S	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	202																	GTGAGAAACATTGGGAACAGG	0.398000													15	73					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113320461	113320461	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:113320461C>G	ENST00000264852.4	+	11	1798	c.1072C>G	c.(1072-1074)Ccc>Gcc	p.P358A	SIDT1_ENST00000393830.3_Missense_Mutation_p.P358A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	358						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGCATCTCATCCCATTGCTGC	0.413000													4	44					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68353908	68353908	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:68353908A>C	ENST00000487270.1	+	7	791	c.743A>C	c.(742-744)gAg>gCg	p.E248A	RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.E248A|RAD51B_ENST00000488612.1_Missense_Mutation_p.E248A|RAD51B_ENST00000390683.3_Missense_Mutation_p.E248A|RAD51B_ENST00000487861.1_Missense_Mutation_p.E248A	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	248					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTGGCTGAGGAGTTTTCAATC	0.338000								Direct reversal of damage					19	39					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27238031	27238031	+	Missense_Mutation	SNP	G	G	C	rs146259736		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:27238031G>C	ENST00000222753.4	-	2	981	c.953C>G	c.(952-954)tCc>tGc	p.S318C		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	318					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCTCCTATAGGAGCTGGCATC	0.507000			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	39	65					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38528984	38528984	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr21:38528984C>T	ENST00000399017.2	+	28	5515	c.2768C>T	c.(2767-2769)tCt>tTt	p.S923F	TTC3_ENST00000355666.1_Missense_Mutation_p.S923F|TTC3_ENST00000354749.2_Missense_Mutation_p.S923F|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	923					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACTTTCTTTTCTCGTTATGGA	0.343000													6	71					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5307512	5307512	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:5307512C>G	ENST00000573584.1	-	7	1608	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	367					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCAACACATTCAAACACATAC	0.383000													12	79					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745037	42745037	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:42745037T>G	ENST00000409122.2	+	5	1900	c.1758T>G	c.(1756-1758)aaT>aaG	p.N586K	C17orf104_ENST00000409464.1_Missense_Mutation_p.N420K|C17orf104_ENST00000359945.3_Missense_Mutation_p.N586K	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	586								p.N586N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGCAGCCAAATGGATTTTGTG	0.353000													7	19					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933776	22933776	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:22933776C>G	ENST00000313077.7	+	8	820	c.695C>G	c.(694-696)tCt>tGt	p.S232C	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S232C	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	232					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GAAGTGATTTCTGGCTACGAA	0.527000													38	123					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590641	56590641	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:56590641C>G	ENST00000338222.5	+	1	616	c.335C>G	c.(334-336)tCc>tGc	p.S112C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	112						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CAGGGCCAGTCCACGCAGCCT	0.507000													8	45					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63885089	63885089	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:63885089A>G	ENST00000371108.4	+	12	1341	c.1036A>G	c.(1036-1038)Aaa>Gaa	p.K346E	ALG6_ENST00000263440.4_Missense_Mutation_p.K348E	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	346					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTACATGAAAAATCCATTCT	0.274000													10	96					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913566	16913566	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:16913566C>A	ENST00000430580.2	-	11	1644	c.757G>T	c.(757-759)Gat>Tat	p.D253Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	253	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTTACAGCATCCTGACATTCA	0.438000													22	266					1.36615e-20	1.54769e-20	1	1	0
ATOH8	84913	broad.mit.edu	37	2	85982004	85982004	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:85982004G>T	ENST00000306279.3	+	1	988	c.692G>T	c.(691-693)cGg>cTg	p.R231L	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	231					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CAGCAGACCCGGAGGCTCCTG	0.662000													6	82					0.00116845	0.00120739	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16456900	16456900	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:16456900G>T	ENST00000358432.5	-	15	2644	c.2490C>A	c.(2488-2490)atC>atA	p.I830I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	830	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCATCATTGATGGCTTTCA	0.637000													8	26					0.00448238	0.00457632	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64421483	64421483	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:64421483G>C	ENST00000358025.3	+	8	867	c.637G>C	c.(637-639)Ggg>Cgg	p.G213R	SYNE2_ENST00000356081.3_Missense_Mutation_p.G213R|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G213R|SYNE2_ENST00000341472.5_Missense_Mutation_p.G213R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G213R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	213	Actin-binding.|CH 2.				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			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)		TTGGAGAAATGGGATGGCTTT	0.393000													6	35					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61748631	61748631	+	Splice_Site	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:61748631G>A	ENST00000423902.2	+	16	4257		c.e16-1		CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATCTCTGCAGGTGCTGAAGA	0.403000													4	17					0	0	1	0	0
STYXL1	51657	broad.mit.edu	37	7	75634644	75634644	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:75634644C>G	ENST00000451157.1	-	6	701	c.532G>C	c.(532-534)Gac>Cac	p.D178H	STYXL1_ENST00000340062.5_Missense_Mutation_p.D82H|STYXL1_ENST00000359697.3_Missense_Mutation_p.D178H|STYXL1_ENST00000431581.1_Missense_Mutation_p.D178H|STYXL1_ENST00000248600.1_Missense_Mutation_p.D178H|STYXL1_ENST00000360591.3_3'UTR			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	178	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ATCTTGGGGTCACAGGCTTGA	0.448000													6	86					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567067	84567067	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:84567067G>C	ENST00000369689.1	+	4	497	c.346G>C	c.(346-348)Gat>Cat	p.D116H	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D58H	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	116					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGAAGATTCTGATAGCGAAGA	0.308000													13	63					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655178	46655178	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:46655178C>T	ENST00000371992.1	-	21	2497	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	POMGNT1_ENST00000371986.3_Missense_Mutation_p.R616Q|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R616Q|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R594Q|POMGNT1_ENST00000396420.3_3'UTR	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	616					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTTCTTCTTCCGAAACAATCT	0.582000													3	10					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437135	16437135	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr9:16437135G>A	ENST00000380672.4	-	6	1114	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	BNC2_ENST00000545497.1_Missense_Mutation_p.R258W|BNC2_ENST00000380667.2_Missense_Mutation_p.R286W|BNC2_ENST00000380666.2_Missense_Mutation_p.R353W	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R353W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGGTTCCCGCAGCCTCAAC	0.468000													4	84					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946311	65946311	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:65946311G>C	ENST00000261892.6	+	10	3481	c.3194G>C	c.(3193-3195)aGa>aCa	p.R1065T	SLC24A1_ENST00000339868.6_Missense_Mutation_p.R1047T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.R951T|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R1047T|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_Missense_Mutation_p.R1035T|SLC24A1_ENST00000537259.1_Intron	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1065					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTAAATGGAGAATGAACAAG	0.398000													7	118					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89224388	89224388	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:89224388G>A	ENST00000263317.4	-	1	265	c.27C>T	c.(25-27)ctC>ctT	p.L9L	NOX4_ENST00000424319.1_Intron|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000393282.2_Silent_p.L9L|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000531342.1_Silent_p.L9L|NOX4_ENST00000534731.1_Silent_p.L9L|NOX4_ENST00000527956.1_Intron|NOX4_ENST00000375979.3_Silent_p.L9L|NOX4_ENST00000535633.1_5'UTR|NOX4_ENST00000525196.1_Silent_p.L9L|NOX4_ENST00000532825.1_Intron			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	9					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTCGTTGGCGAGCCAGCTCC	0.662000													12	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413332	179413332	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:179413332G>C	ENST00000589042.1	-	339	93245	c.93021C>G	c.(93019-93021)atC>atG	p.I31007M	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29366M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I28439M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I22067M|TTN_ENST00000460472.2_Missense_Mutation_p.I21942M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I22134M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29366	Fibronectin type-III 126.						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)			CGGTGAATGTGATTGACTTAC	0.483000													9	144					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46000540	46000540	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:46000540G>A	ENST00000376741.4	+	4	1409	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	424					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCATCAGCCTGAATGCAGCCC	0.587000													8	45					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10602054	10602054	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:10602054G>C	ENST00000334534.5	+	7	678	c.498G>C	c.(496-498)ctG>ctC	p.L166L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GAAATGCTCTGAAAGAAATGT	0.423000													10	34					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691530	90691530	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:90691530G>A	ENST00000312600.3	+	2	1168	c.954G>A	c.(952-954)ctG>ctA	p.L318L	PABPC5_ENST00000373105.1_Silent_p.L154L	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	318	RRM 4.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATGAAAAACTGAAGGAGGAAT	0.448000													8	59					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94910954	94910954	+	Silent	SNP	C	C	T	rs35416438	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:94910954C>T	ENST00000357742.4	+	10	1422	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	MCTP2_ENST00000451018.3_Silent_p.S474S|MCTP2_ENST00000331706.4_Silent_p.S62S|MCTP2_ENST00000557742.1_Silent_p.S62S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	474					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.S474S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGGGGTCTCCGTCTCTGATC	0.547000													6	76					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640347	104640347	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:104640347G>T	ENST00000304883.2	-	1	626	c.486C>A	c.(484-486)aaC>aaA	p.N162K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	162						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAGGAAAGAAGTTCTGGAAGC	0.547000													6	38					5.18039e-06	5.64381e-06	1	1	0
IRAK3	11213	broad.mit.edu	37	12	66620608	66620608	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:66620608G>T	ENST00000261233.4	+	7	1180	c.759G>T	c.(757-759)ttG>ttT	p.L253F	IRAK3_ENST00000457197.2_Missense_Mutation_p.L192F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	253	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTGACAGATTGCAGTGTGTAG	0.428000													3	41					0.115264	0.115944	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117301488	117301488	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:117301488G>A	ENST00000321322.6	-	32	5817	c.5816C>T	c.(5815-5817)gCg>gTg	p.A1939V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1669V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1879					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCCGGTCCGCATCCTGGGG	0.657000													4	185					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179310414	179310414	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:179310414C>T	ENST00000367619.3	+	7	892	c.749C>T	c.(748-750)cCa>cTa	p.P250L	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Missense_Mutation_p.P192L|SOAT1_ENST00000539888.1_Missense_Mutation_p.P185L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	250					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACACTGCCACCAGCTTCCCGG	0.413000													24	207					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817937	62817937	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:62817937C>A	ENST00000582986.1	-	0	561					NR_024386.1																						AGGTCTGAGTCATAGGACATG	0.532000													6	25					0.000442599	0.000458743	1	1	0
C20orf195	79025	broad.mit.edu	37	20	62187184	62187184	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:62187184G>C	ENST00000370098.3	+	2	260	c.168G>C	c.(166-168)ctG>ctC	p.L56L	C20orf195_ENST00000370097.1_Silent_p.L56L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	56										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTCGGACCTGAGTCCGCACC	0.647000													3	45					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341528	25341528	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:25341528G>A	ENST00000330560.3	+	10	1644	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CDCA2_ENST00000380665.3_Silent_p.K374K|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	389					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATATGAGGAAGAGGAAGAGAG	0.348000													11	27					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43351570	43351570	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:43351570C>T	ENST00000378852.3	+	10	1308	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F	API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Missense_Mutation_p.L395F|API5_ENST00000534600.1_Missense_Mutation_p.L395F|API5_ENST00000455725.2_Missense_Mutation_p.L384F|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_Missense_Mutation_p.L341F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	395					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCGCTTAGCTCTCCAGGGTAA	0.388000													8	46					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35693864	35693864	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:35693864C>T	ENST00000373664.3	-	7	925	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RBL1_ENST00000344359.3_Missense_Mutation_p.E287K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	287					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGGAGGCATTCTCCTTTTAAT	0.308000													18	101					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396180	122396180	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:122396180A>T	ENST00000288912.4	+	12	2587	c.1733A>T	c.(1732-1734)aAt>aTt	p.N578I	WDR66_ENST00000397454.2_Missense_Mutation_p.N578I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	578							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCAAACAGGAATTTTATCATT	0.453000													17	110					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573363	25573363	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:25573363G>C	ENST00000243189.7	-	2	368	c.92C>G	c.(91-93)tCg>tGg	p.S31W	C1orf63_ENST00000417642.2_Missense_Mutation_p.S24W|C1orf63_ENST00000431849.2_Missense_Mutation_p.S31W	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	31	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACCGCGACGACAGCCGGCT	0.642000													13	89					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686724	108686724	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:108686724C>T	ENST00000312143.7	-	3	379	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	CMKLR1_ENST00000412676.1_Missense_Mutation_p.E6K|CMKLR1_ENST00000552995.1_Missense_Mutation_p.E4K|CMKLR1_ENST00000397688.2_Missense_Mutation_p.E4K|CMKLR1_ENST00000550402.1_Missense_Mutation_p.E6K	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	6					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGTAATCTTCATCCTCCATT	0.463000													8	47					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395192	186395192	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:186395192C>T	ENST00000232003.4	+	7	1178	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	366	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			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)		gacaccatccccatgcacacc	0.517000													3	11					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6027390	6027390	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:6027390G>C	ENST00000378156.4	-	5	751	c.486C>G	c.(484-486)ctC>ctG	p.L162L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	162					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGGTGCAGGAGGGCTCTGG	0.607000													3	15					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006840	58006840	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:58006840C>T	ENST00000286494.4	+	2	685	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ARHGEF25_ENST00000333972.7_Silent_p.V114V|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	75					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGGGCCCGTCAGTGGCCTGA	0.617000													14	35					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420120	49420120	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:49420120T>G	ENST00000301067.7	-	48	15628	c.15629A>C	c.(15628-15630)tAc>tCc	p.Y5210S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CGTGGCCTCGTAGCCCACGGG	0.582000													14	29					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976604	38976604	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:38976604C>T	ENST00000355481.4	+	34	5440	c.5309C>T	c.(5308-5310)tCg>tTg	p.S1770L	RYR1_ENST00000360985.3_Missense_Mutation_p.S1770L|RYR1_ENST00000359596.3_Missense_Mutation_p.S1770L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1770	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			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)	GTCACCACTTCGCTGAGGCCC	0.682000													10	84					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18837145	18837145	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr10:18837145C>G	ENST00000377304.4	-	10	1511	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	365							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCACACCCTCTGGCTTCAGC	0.453000													7	23					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55855167	55855167	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:55855167G>T	ENST00000255613.3	+	5	754	c.506G>T	c.(505-507)cGg>cTg	p.R169L	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	169	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACCCGCAAGCGGAGTGCTCAG	0.637000													7	19					0.000157383	0.000165641	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7478464	7478464	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:7478464C>G	ENST00000293831.8	+	4	249	c.233C>G	c.(232-234)tCt>tGt	p.S78C	EIF4A1_ENST00000577269.1_Missense_Mutation_p.S78C|EIF4A1_ENST00000582746.1_Missense_Mutation_p.S78C|EIF4A1_ENST00000380512.5_Missense_Mutation_p.S62C|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	78	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAAGCCCAATCTGGGACTGGG	0.433000													5	71					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112499328	112499328	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:112499328A>T	ENST00000230538.7	-	10	1581	c.1184T>A	c.(1183-1185)aTc>aAc	p.I395N	LAMA4_ENST00000424408.2_Missense_Mutation_p.I388N|LAMA4_ENST00000522006.1_Missense_Mutation_p.I388N|LAMA4_ENST00000389463.4_Missense_Mutation_p.I388N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	395	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTACCTTGGATTTTATCCCT	0.393000													12	48					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2129415	2129415	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:2129415C>T	ENST00000219476.3	+	28	3900	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	TSC2_ENST00000439673.2_Silent_p.S1010S|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000401874.2_Silent_p.S1046S|TSC2_ENST00000382538.6_Silent_p.S998S|TSC2_ENST00000568454.1_Silent_p.S1057S|TSC2_ENST00000353929.4_Silent_p.S1047S|TSC2_ENST00000350773.4_Silent_p.S1090S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1090					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGCTGCAGTCCGGCCCGGAGT	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	73					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304421	28304421	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr21:28304421C>T	ENST00000284987.5	-	6	2072	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGAACCCATTCCACAAAAGTT	0.448000													9	82					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95099235	95099235	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:95099235G>A	ENST00000379982.3	+	7	1580	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	358					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GGAAGAATTGGAAGAAGATAT	0.313000													8	57					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119153695	119153695	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:119153695G>A	ENST00000319172.5	-	8	1567	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	383						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGCCGCACCAGCACCCCTTGA	0.458000													24	58					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468000													4	30					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415891	57415891	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:57415891C>A	ENST00000313949.7	+	1	1119	c.730C>A	c.(730-732)Cgt>Agt	p.R244S	GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R244S|GNAS_ENST00000371075.3_Missense_Mutation_p.R244S|GNAS-AS1_ENST00000443966.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R244G(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCATCCGGCGTCACTAATG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	33					1	1	1	1	0
AGGF1	55109	broad.mit.edu	37	5	76335389	76335389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:76335389A>G	ENST00000312916.7	+	5	1097	c.715A>G	c.(715-717)Att>Gtt	p.I239V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	239					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTCCACTGGAATTTATTACTA	0.303000													4	12					0	0	1	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21974609	21974609	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:21974609G>C	ENST00000400590.3	-	7	695	c.497C>G	c.(496-498)tCt>tGt	p.S166C	ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S103C|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S166C|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.S166C|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S166C			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	166						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTGTAATTAGAAAATCCCAC	0.328000													4	12					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37790188	37790188	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:37790188G>C	ENST00000254079.4	+	5	763	c.294G>C	c.(292-294)gaG>gaC	p.E98D	PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E62D|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E65D|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E98D|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E62D	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	98					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTGAATGAGAACCAGGCCT	0.552000													13	78					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925281	188925281	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:188925281G>C	ENST00000345063.3	+	2	275	c.108G>C	c.(106-108)ccG>ccC	p.P36P	TPRG1_ENST00000433971.1_Silent_p.P36P	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	36								p.P36P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AAGAGGACCCGATGCCAAGAC	0.478000													6	104					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421757	50421757	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:50421757C>T	ENST00000435965.1	-	6	695	c.522G>A	c.(520-522)gaG>gaA	p.E174E	CACNA2D2_ENST00000479441.1_Silent_p.E174E|CACNA2D2_ENST00000429770.1_Silent_p.E174E|CACNA2D2_ENST00000266039.3_Silent_p.E174E|CACNA2D2_ENST00000360963.3_Silent_p.E105E|CACNA2D2_ENST00000424201.2_Silent_p.E174E|CACNA2D2_ENST00000423994.2_Silent_p.E174E|CACNA2D2_ENST00000395083.1_Silent_p.E174E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	174					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATCCTCACTCTCAGGGTCGT	0.562000													37	147					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724868	71724868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:71724868G>C	ENST00000393695.3	-	15	4012	c.3681C>G	c.(3679-3681)atC>atG	p.I1227M	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.I1227M	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1227					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.I1227I(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						CCAAGCTGCTGATGAGGCTAT	0.597000			T	RARA	APL								8	107					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38134400	38134400	+	Splice_Site	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:38134400C>G	ENST00000339363.3	-	16	2874		c.e16-1		RPGR_ENST00000338898.3_Splice_Site|RPGR_ENST00000309513.3_Splice_Site|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Splice_Site			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTTTTCTTTCTATAAACAAT	0.328000													6	36					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740264	162740264	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:162740264G>T	ENST00000367922.3	+	13	1904	c.1466G>T	c.(1465-1467)cGa>cTa	p.R489L	DDR2_ENST00000367921.3_Missense_Mutation_p.R489L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			AGGCTGATACGAAAACTCCCA	0.532000													10	80					2.80697e-09	3.14861e-09	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5920200	5920200	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr9:5920200T>C	ENST00000399933.3	-	8	5795	c.5796A>G	c.(5794-5796)caA>caG	p.Q1932Q	KIAA2026_ENST00000381461.2_Silent_p.Q1902Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1932										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGGTGTAGATTGAATGCCTT	0.428000													71	85					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595984	36595984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:36595984C>G	ENST00000299440.5	+	2	1242	c.1130C>G	c.(1129-1131)tCa>tGa	p.S377*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	377					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S377*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CACCACATCTCAAGTCACAAG	0.468000									Familial Hemophagocytic Lymphohistiocytosis				7	70					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693072	49693072	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:49693072C>T	ENST00000296452.4	+	5	6197	c.6083C>T	c.(6082-6084)gCg>gTg	p.A2028V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2028					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGGGCTTTGCGGATGGACGC	0.597000													4	121					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22053101	22053101	+	Splice_Site	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:22053101G>T	ENST00000306385.5	+	13	2435		c.e13+1		BMP1_ENST00000397816.3_Splice_Site|BMP1_ENST00000397814.3_Splice_Site|BMP1_ENST00000306349.8_Splice_Site|BMP1_ENST00000354870.5_Splice_Site	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCTGTGAGGGTGAGTGCCCC	0.607000													8	61					0.00448238	0.00457632	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3481493	3481493	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:3481493T>G	ENST00000324266.5	+	10	1999	c.1804T>G	c.(1804-1806)Tat>Gat	p.Y602D	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Y602D	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	602							binding										AGCTGAAAAGTATTTTCAAGA	0.284000													5	64					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62166352	62166352	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:62166352G>A	ENST00000217185.2	-	2	318	c.291C>T	c.(289-291)aaC>aaT	p.N97N	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	97	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CGCCCGTGGCGTTGCCCTCGG	0.692000													3	19					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428782	142428782	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:142428782C>T	ENST00000390400.2	+	0	162																											GGATATGGACCATGAAAATAT	0.423000													4	43					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679219	87679219	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:87679219G>C	ENST00000320005.5	-	6	833	c.786C>G	c.(784-786)atC>atG	p.I262M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	262					signal transduction|visual perception	integral to membrane	cGMP binding	p.I262I(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAGGTAGATGATATCACATA	0.428000													8	73					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60882753	60882753	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:60882753C>A	ENST00000253003.2	+	7	771	c.725C>A	c.(724-726)cCg>cAg	p.P242Q		NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	242	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCAACTAGCCCGAGCCCCGCG	0.682000													5	28					3.59834e-05	3.8465e-05	1	1	0
OR7A5	26659	broad.mit.edu	37	19	14938808	14938808	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:14938808C>T	ENST00000322301.3	-	2	333	c.246G>A	c.(244-246)ctG>ctA	p.L82L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.L82L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGATGTTCATCAGCATTTTTG	0.443000													21	145					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456859	16456859	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:16456859G>A	ENST00000358432.5	-	15	2685	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	844	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGATGGCGGAGGGGCAGTC	0.622000													9	41					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130830396	130830396	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:130830396C>T	ENST00000245255.3	+	4	561	c.289C>T	c.(289-291)Cta>Tta	p.L97L		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	97					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AAGGCAGAACCTAGACCATGT	0.398000													9	52					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545848	82545848	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:82545848C>T	ENST00000333891.9	-	7	11791	c.11454G>A	c.(11452-11454)aaG>aaA	p.K3818K	PCLO_ENST00000437081.1_Silent_p.K538K|PCLO_ENST00000423517.2_Silent_p.K3818K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCGTTCTCTCTTTTCTCTCT	0.453000													4	68					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142481285	142481285	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:142481285C>A	ENST00000430863.1	-	0	1956					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTGAAGTCCTCTTTTGGCTGT	0.582000													4	53					0.00909568	0.00925859	1	1	0
PDP1	54704	broad.mit.edu	37	8	94935518	94935518	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:94935518A>T	ENST00000396200.3	+	3	1582	c.1306A>T	c.(1306-1308)Aag>Tag	p.K436*	PDP1_ENST00000297598.4_Nonsense_Mutation_p.K411*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.K411*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.K411*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	411					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCCACAGGATAAGTTTCTGGT	0.453000													16	110					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791935	37791935	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:37791935G>A	ENST00000254079.4	+	6	990	c.521G>A	c.(520-522)aGa>aAa	p.R174K	PPP1R1B_ENST00000394265.1_Missense_Mutation_p.R138K|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.R141K|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.R174K|PPP1R1B_ENST00000394267.2_Missense_Mutation_p.R138K	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	174					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAGTCCGAGAGAGATGGAGGC	0.602000													12	86					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793211	29793211	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr18:29793211C>T	ENST00000269202.6	+	11	1315	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S423L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	423	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCAATCTTTCGGAAACACGG	0.438000													8	42					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1653117	1653117	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:1653117C>G	ENST00000356200.3	-	2	277	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	CDK11A_ENST00000404249.3_Missense_Mutation_p.E49Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.E49Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.E49Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E49Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.E49Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.E15Q					cyclin-dependent kinase 11A									p.E49Q(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						tccccctcctcaagggaatcc	0.408000													8	46					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416734	29416734	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:29416734C>T	ENST00000389048.3	-	29	5125	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1407					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCTCTTCCTCTTCCACAAGT	0.517000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				22	56					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30826957	30826957	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:30826957G>C	ENST00000256079.4	-	8	1214	c.876C>G	c.(874-876)ttC>ttG	p.F292L	IPO8_ENST00000544829.1_Missense_Mutation_p.F87L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	292					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTTCAAAAAGAATTCAGAAA	0.308000													8	43					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167060	140167060	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:140167060C>T	ENST00000504120.2	+	1	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PCDHA1_ENST00000394633.3_Silent_p.F395F|PCDHA1_ENST00000378133.3_Silent_p.F395F	NM_018900.2	NP_061723.1														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)			ACGTCCCCTTCAAGCTGGTGT	0.602000													27	119					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437132	16437132	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr9:16437132C>T	ENST00000380672.4	-	6	1117	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	BNC2_ENST00000545497.1_Missense_Mutation_p.E259K|BNC2_ENST00000380667.2_Missense_Mutation_p.E287K|BNC2_ENST00000380666.2_Missense_Mutation_p.E354K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGGCTGGGTTCCCGCAGCCTC	0.468000													5	80					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365489	37365489	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:37365489G>C	ENST00000233057.4	-	8	933	c.611C>G	c.(610-612)tCt>tGt	p.S204C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S204C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S204C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	204					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTCACCTTCAGATGATGATTC	0.333000													16	82					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872757	55872757	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:55872757C>A	ENST00000313503.1	+	1	239	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTCGTCACACCTAAAACCTTA	0.423000										HNSCC(53;0.14)			145	256					8.66588e-61	9.91632e-61	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130287443	130287443	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:130287443G>C	ENST00000358511.6	+	5	2427	c.2396G>C	c.(2395-2397)cGt>cCt	p.R799P	COL6A6_ENST00000453409.2_Missense_Mutation_p.R799P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	799	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCAGCCCCCGTGAAGGTAGG	0.403000													22	53					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127230187	127230187	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:127230187A>T	ENST00000000233.5	+	4	480	c.326A>T	c.(325-327)aAg>aTg	p.K109M	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	109					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GAACTCCAGAAGATGGTGAGT	0.542000													21	88					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:91083357G>A	ENST00000420329.2	+	2	366	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Silent_p.A73A	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423000			T	MAML2	salivary gland mucoepidermoid								5	45					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68269852	68269852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:68269852G>A	ENST00000473183.2	-	1	635	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	ESRP2_ENST00000565858.1_Missense_Mutation_p.L33F			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	33					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCCCGAAGAGGACGACCAGT	0.746000													3	16					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46718648	46718648	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:46718648C>T	ENST00000398576.2	-	14	1570	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	LCP1_ENST00000323076.2_Silent_p.T394T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	394	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		GCTCTTCTCTCGTCTCACCTA	0.393000			T	BCL6	NHL								8	41					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													3	18					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156758994	156758994	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:156758994A>C	ENST00000275820.3	+	8	2079	c.2064A>C	c.(2062-2064)gaA>gaC	p.E688D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	688	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGGAGAGAGAAATCATTCACG	0.413000													58	117					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709613	67709613	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:67709613G>C	ENST00000268797.7	-	3	948	c.603C>G	c.(601-603)ctC>ctG	p.L201L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	201						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CGAATGTCTTGAGCAGCCCGT	0.612000													7	43					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148314	74148314	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:74148314G>T	ENST00000324896.4	+	16	1743	c.1354G>T	c.(1354-1356)Gct>Tct	p.A452S	GTF2I_ENST00000346152.4_Missense_Mutation_p.A431S|GTF2I_ENST00000353920.4_Missense_Mutation_p.A432S|GTF2I_ENST00000416070.1_Missense_Mutation_p.A411S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	452					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TGATAAGCCAGCTTCAGGAGG	0.363000													6	88					0.00307968	0.00316316	1	1	0
IRAK3	11213	broad.mit.edu	37	12	66620604	66620604	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:66620604G>C	ENST00000261233.4	+	7	1176	c.755G>C	c.(754-756)aGa>aCa	p.R252T	IRAK3_ENST00000457197.2_Missense_Mutation_p.R191T	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	252	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTTTTGACAGATTGCAGTGT	0.428000													4	42					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11322787	11322787	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:11322787G>A	ENST00000294618.7	-	36	4543	c.4532C>T	c.(4531-4533)tCg>tTg	p.S1511L	DOCK6_ENST00000319867.7_Missense_Mutation_p.S850L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1511	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACCAGGGACGAGAGAGACAT	0.607000													4	18					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639027	74639027	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr18:74639027G>A	ENST00000253159.8	+	23	4254	c.4056G>A	c.(4054-4056)ggG>ggA	p.G1352G	ZNF236_ENST00000320610.9_Silent_p.G1354G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1352					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAGATGGGAGCCTGGCTA	0.438000													8	55					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633626	69633626	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:69633626T>A	ENST00000337103.4	+	9	2617	c.1025T>A	c.(1024-1026)aTg>aAg	p.M342K	C8orf34_ENST00000518698.1_Missense_Mutation_p.M453K|C8orf34_ENST00000539993.1_Missense_Mutation_p.M367K|C8orf34_ENST00000325233.3_Missense_Mutation_p.M111K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	367					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAAGCACTAATGGAGGAGGGT	0.279000													5	43					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183442278	183442278	+	Silent	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:183442278A>T	ENST00000305135.5	+	6	804	c.609A>T	c.(607-609)cgA>cgT	p.R203R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	203					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGACTTCACGACTTTTTGTAA	0.338000													6	45					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110301327	110301327	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:110301327C>T	ENST00000414000.2	+	3	1296	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	GPR6_ENST00000275169.3_Missense_Mutation_p.R338C			P46095	GPR6_HUMAN	G protein-coupled receptor 6	338						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGAGATCCAGCGCGCCCTGTG	0.607000													17	167					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542335	48542335	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:48542335G>A	ENST00000376701.4	+	1	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	31			E -> K (in WAS).		blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGGACCACGAGAACCAGCGAC	0.622000			"""Mis, N, F, S"""			lymphoma							15	75					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172503	207172503	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:207172503C>G	ENST00000374423.3	+	5	3637	c.3251C>G	c.(3250-3252)tCt>tGt	p.S1084C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1084							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTTTTGATTCTGAACAACTT	0.313000													17	39					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148858099	148858099	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:148858099G>C	ENST00000296051.2	+	2	666	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	176						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATTGGACTTTGAACGTTCTTT	0.353000									Hermansky-Pudlak syndrome				11	87					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089188	86089188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:86089188C>G	ENST00000330753.4	+	2	2097	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	FLRT2_ENST00000554746.1_Missense_Mutation_p.L444V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	444	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGGCTCTCTCTCTTCACCGT	0.493000													10	36					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737501	247737501	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:247737501C>T	ENST00000366491.2	+	7	662	c.165C>T	c.(163-165)atC>atT	p.I55I	GCSAML_ENST00000527541.1_Silent_p.I43I|GCSAML_ENST00000463359.1_Silent_p.I43I|GCSAML_ENST00000366489.1_Silent_p.I55I|GCSAML_ENST00000527084.1_Silent_p.I43I|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366488.4_Silent_p.I75I|GCSAML_ENST00000536561.1_Silent_p.I55I|RP11-978I15.10_ENST00000446347.1_RNA	NM_001281834.1	NP_001268763.1			germinal center-associated, signaling and motility-like																		TTAATCACATCCCCCATCAGA	0.453000													13	69					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472745	39472745	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:39472745T>A	ENST00000518318.2	+	7	1138	c.1096T>A	c.(1096-1098)Ttg>Atg	p.L366M	POU6F2_ENST00000559001.1_Missense_Mutation_p.L311M|POU6F2_ENST00000403058.1_Missense_Mutation_p.L366M			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	366	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACTCAGGGCTTGCAAGTGCA	0.587000													7	57					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852031	38852031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:38852031G>A	ENST00000310803.5	-	2	388	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.Q23*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.Q122*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	71	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCAAAAGATTGAATGCAGCTG	0.458000													4	21					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876554	196876554	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:196876554C>T	ENST00000367416.2	+	5	859	c.722C>T	c.(721-723)tCc>tTc	p.S241F	CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTGCCAGTCCTACTATGAA	0.438000													6	72					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493461	101493461	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:101493461G>T	ENST00000392979.3	+	21	2368	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	ANO4_ENST00000299222.9_Missense_Mutation_p.M224I|ANO4_ENST00000550015.1_Missense_Mutation_p.M224I|ANO4_ENST00000392977.3_Missense_Mutation_p.M704I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	704						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTCAGCCGATGAATGCCTATG	0.338000										HNSCC(74;0.22)			10	68					3.86212e-05	4.11557e-05	1	1	0
DPYD	1806	broad.mit.edu	37	1	98060676	98060676	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:98060676C>T	ENST00000370192.3	-	9	997	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	299					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCCCTGGTCCTGCGTCAGGC	0.393000													12	78					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519811	58519811	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:58519811G>T	ENST00000302819.5	-	4	676	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ACOX2_ENST00000459701.2_Missense_Mutation_p.L129M	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	129					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTGAGCCCAGGCTCCTGAGG	0.512000													17	91					1.67942e-08	1.86541e-08	1	1	0
LEFTY2	7044	broad.mit.edu	37	1	226127680	226127680	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:226127680C>T	ENST00000366820.5	-	2	621	c.273G>A	c.(271-273)gcG>gcA	p.A91A	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.A91A	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	91					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGCCTCCGACGCCAGGAACC	0.701000													4	29					0	0	1	0	0
MIR520H	574493	broad.mit.edu	37	19	54245826	54245826	+	RNA	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:54245826T>C	ENST00000385126.1	+	0	61					NR_030215.1																						AAAAACAAAGTGCTTCCCTTT	0.408000													23	74					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127238525	127238525	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:127238525C>T	ENST00000265825.5	+	4	1216	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L	FSCN3_ENST00000420086.2_Silent_p.L199L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	333						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGCACCCCCTGGAGTCTGA	0.557000													54	84					0	0	1	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972684	116972684	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:116972684C>T	ENST00000480237.1	+	0	955					NR_027345.1																						CCCTTACCTCCGCAGCCTCTC	0.642000													11	43					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767577	31767577	+	Missense_Mutation	SNP	T	T	A	rs142718315		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:31767577T>A	ENST00000240587.4	-	2	3449	c.3122A>T	c.(3121-3123)tAt>tTt	p.Y1041F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1041					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTGCACTGATAGGAAGTCCC	0.483000													6	35					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704648	109704648	+	Splice_Site	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:109704648C>G	ENST00000356711.2	+	25	2933	c.2807C>G	c.(2806-2808)aCt>aGt	p.T936S	MYO16_ENST00000357550.2_Splice_Site_p.T936S|MYO16_ENST00000457511.2_Splice_Site_p.T448S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	936	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TATTTCCTAGCTAGTGAAAAT	0.358000													6	45					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006801	58006801	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:58006801C>T	ENST00000286494.4	+	2	646	c.186C>T	c.(184-186)ctC>ctT	p.L62L	ARHGEF25_ENST00000333972.7_Silent_p.L101L|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	62					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						gctctggcctcagctctggcc	0.607000													25	45					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68651779	68651779	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:68651779C>T	ENST00000380822.4	-	3	174	c.123G>A	c.(121-123)gaG>gaA	p.E41E	TAF9_ENST00000380818.3_Splice_Site_p.E38E|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Splice_Site_p.E10E	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	41						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CATACAATTGCTCTAAAAGAG	0.284000													14	41					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712451	95712451	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:95712451G>A	ENST00000524717.1	-	5	4416	c.3132C>T	c.(3130-3132)ctC>ctT	p.L1044L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1044					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGACCCCTGAGGGGACCCA	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								11	28					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12531405	12531405	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:12531405G>A	ENST00000444864.1	+	2	493	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TSEN2_ENST00000402228.3_Missense_Mutation_p.E36K|TSEN2_ENST00000314571.7_Missense_Mutation_p.E36K|TSEN2_ENST00000454502.2_Missense_Mutation_p.E36K|TSEN2_ENST00000284995.6_Missense_Mutation_p.E36K|TSEN2_ENST00000383797.5_Missense_Mutation_p.E36K|TSEN2_ENST00000415684.1_Missense_Mutation_p.E36K	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	36					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCCTCTGAAAGAATTCAAGAT	0.448000													11	84					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362398	83362398	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr5:83362398T>G	ENST00000296591.5	-	7	1097	c.679A>C	c.(679-681)Act>Cct	p.T227P	EDIL3_ENST00000380138.3_Missense_Mutation_p.T217P|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	227	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATCACACCAGTAACTCTCATT	0.353000													10	56					0	0	1	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136105	220136105	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:220136105C>T	ENST00000490341.1	+	0	575					NR_003063.1																						CTGGAGCACTCAGACTGTGCC	0.547000													20	69					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	24					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392687	79392687	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:79392687C>T	ENST00000370742.3	-	8	1030	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	323					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAGAATTATCATAATTTTGA	0.323000													8	54					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412026	63412026	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:63412026C>T	ENST00000330258.3	-	2	1413	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AMER1_ENST00000403336.1_Missense_Mutation_p.E381K|AMER1_ENST00000374869.3_Missense_Mutation_p.E381K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									tcttcttcctcctcGTCATCA	0.522000													15	79					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250786	35250786	+	Missense_Mutation	SNP	C	C	G	rs142778619	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:35250786C>G	ENST00000329285.8	-	4	1293	c.920G>C	c.(919-921)cGa>cCa	p.R307P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R307L(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGGTTTTTCTCGAGTGTGAGT	0.413000													15	107					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37457266	37457266	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:37457266C>T	ENST00000264658.6	-	4	482	c.222G>A	c.(220-222)caG>caA	p.Q74Q	FBXL20_ENST00000583610.1_Silent_p.Q74Q|FBXL20_ENST00000394294.3_Silent_p.Q74Q|FBXL20_ENST00000577399.1_Silent_p.Q76Q	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	74						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CAATATCCCTCTGGAAATCAA	0.403000													4	44					0	0	1	0	0
PCGF1	84759	broad.mit.edu	37	2	74734257	74734257	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:74734257C>G	ENST00000233630.6	-	2	1022	c.111G>C	c.(109-111)aaG>aaC	p.K37N	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	37	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						AGTCTTTGATCTTCACTCGAA	0.537000													11	26					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308922	248308922	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:248308922T>C	ENST00000366476.1	+	1	473	c.473T>C	c.(472-474)aTt>aCt	p.I158T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GATGCAATCATTGATGCTGTA	0.473000													92	213					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518665	93518665	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:93518665G>T	ENST00000377067.3	+	8	2064	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	564						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGATAAGTGTGGTGATGTTAC	0.433000													12	72					3.27435e-08	3.61344e-08	1	1	0
DNAJC12	56521	broad.mit.edu	37	10	69556908	69556908	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr10:69556908T>A	ENST00000225171.2	-	5	715	c.563A>T	c.(562-564)gAa>gTa	p.E188V	DNAJC12_ENST00000483798.2_Missense_Mutation_p.E218V	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	188					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CCTCAGGAGTTCTGAGGGAGC	0.403000													5	24					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734448	42734448	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr15:42734448C>T	ENST00000263805.4	-	7	3843	c.3517G>A	c.(3517-3519)Gga>Aga	p.G1173R	ZNF106_ENST00000565380.1_Missense_Mutation_p.G401R|ZNF106_ENST00000565611.1_Missense_Mutation_p.G358R	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		AGAGAGGCTCCGGTGGGTGAT	0.507000													13	66					0	0	1	0	0
NCBP2L	392517	broad.mit.edu	37	X	107037473	107037473	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:107037473T>A	ENST00000509000.2	+	2	221	c.23T>A	c.(22-24)cTa>cAa	p.L8Q	NCBP2L_ENST00000372379.2_Missense_Mutation_p.L8Q					nuclear cap binding protein subunit 2-like											large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CTGAAAATTCTATGTAAAGAC	0.498000													7	21					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102572448	102572448	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr12:102572448G>A	ENST00000327680.2	+	9	1304	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.E439K|PARPBP_ENST00000358383.5_Missense_Mutation_p.E362K|PARPBP_ENST00000392911.2_Missense_Mutation_p.E281K|PARPBP_ENST00000543784.1_Intron	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	362					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TCTTTTGGACGAAGAAGCAGC	0.368000													8	48					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518666	93518666	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:93518666G>T	ENST00000377067.3	+	8	2065	c.1693G>T	c.(1693-1695)Gtg>Ttg	p.V565L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	565						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATAAGTGTGGTGATGTTACT	0.438000													13	72					2.32078e-09	2.61184e-09	1	1	0
TAF1	6872	broad.mit.edu	37	X	70627847	70627847	+	Silent	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:70627847C>G	ENST00000449580.1	+	28	4278	c.4227C>G	c.(4225-4227)gtC>gtG	p.V1409V	TAF1_ENST00000423759.1_Silent_p.V1430V|TAF1_ENST00000276072.3_Silent_p.V1430V|TAF1_ENST00000373790.4_Silent_p.V1409V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1409	Bromo 1.|Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACACTCCAGTCAATGCAAAGG	0.468000													18	49					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164112	95164112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:95164112C>A	ENST00000027335.3	-	13	1904	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.E380*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.E594*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	594	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCAGACCTTCTGGATCCTTG	0.532000													7	84					0.00307968	0.00316316	1	1	0
ACY3	91703	broad.mit.edu	37	11	67414389	67414389	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:67414389C>G	ENST00000255082.3	-	3	296	c.126G>C	c.(124-126)caG>caC	p.Q42H	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	42					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	AGCTGGCTCTCTGCAGCTCTG	0.682000													5	19					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63568657	63568657	+	Silent	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chrX:63568657A>G	ENST00000374852.3	-	6	682	c.615T>C	c.(613-615)tgT>tgC	p.C205C	MTMR8_ENST00000453546.1_Silent_p.C205C	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	205	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGGCTGGCTACAGCGGCAAA	0.458000													6	63					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53048131	53048131	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr13:53048131C>G	ENST00000378037.5	+	8	1807	c.1717C>G	c.(1717-1719)Cca>Gca	p.P573A	CKAP2_ENST00000490903.1_Missense_Mutation_p.P524A|CKAP2_ENST00000258607.5_Missense_Mutation_p.P572A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	573					apoptosis|cell cycle	centrosome|microtubule|spindle pole				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)		AACAAAAGATCCAACCCATGA	0.333000													9	33					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71209212	71209212	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:71209212A>G	ENST00000272421.6	+	4	1030	c.764A>G	c.(763-765)aAc>aGc	p.N255S	ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.N221S|ANKRD53_ENST00000360589.3_Missense_Mutation_p.N255S|AC007040.11_ENST00000606025.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	255										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AAAATATGGAACCACCGTGCC	0.602000													15	48					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968118	68968118	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr8:68968118G>A	ENST00000288368.4	+	10	1424	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACAGGGTGAGAAACTTTA	0.373000													5	59					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817983	62817983	+	RNA	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr17:62817983C>G	ENST00000582986.1	-	0	515					NR_024386.1																						TGGAGCCATTCTCTTGGAGTA	0.562000													4	29					0	0	1	0	0
NHLRC4	283948	broad.mit.edu	37	16	618163	618163	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr16:618163C>T	ENST00000424439.2	+	2	773	c.116C>T	c.(115-117)tCc>tTc	p.S39F	NHLRC4_ENST00000540585.1_Missense_Mutation_p.S39F|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	39																	CCCCTGGGCTCCCTGGGGGGC	0.667000													5	13					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949691	118949691	+	Silent	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:118949691C>G	ENST00000300793.6	+	14	2289	c.2247C>G	c.(2245-2247)ctC>ctG	p.L749L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	750					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACAAGAACCTCATGCCACCTC	0.562000													17	51					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778075	41778075	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr19:41778075G>A	ENST00000392006.3	+	3	680	c.507G>A	c.(505-507)caG>caA	p.Q169Q	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.Q69Q|HNRNPUL1_ENST00000352456.3_Silent_p.Q69Q|HNRNPUL1_ENST00000263367.3_Silent_p.Q80Q|HNRNPUL1_ENST00000602130.1_Silent_p.Q169Q|HNRNPUL1_ENST00000593587.1_Silent_p.Q69Q|HNRNPUL1_ENST00000378215.4_Silent_p.Q126Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	169					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCAATTCCAGAGTCGAAAGA	0.532000													43	197					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202863851	202863851	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:202863851C>G	ENST00000367261.3	-	9	1380	c.1162G>C	c.(1162-1164)Gat>Cat	p.D388H	KLHL12_ENST00000435533.3_Missense_Mutation_p.D426H|KLHL12_ENST00000367259.1_Missense_Mutation_p.D121H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	388					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGCTTCCATCAAAGCCTCCA	0.448000													21	127					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530723	47530723	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:47530723G>T	ENST00000426342.1	-	7	1106	c.360C>A	c.(358-360)atC>atA	p.I120I	MDGA2_ENST00000399232.2_Silent_p.I349I|MDGA2_ENST00000357362.3_Silent_p.I120I|MDGA2_ENST00000439988.3_Silent_p.I418I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	349	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGCCAATCTGGATGTTGTCAT	0.363000													11	44					1.08611e-07	1.19472e-07	1	1	0
NISCH	11188	broad.mit.edu	37	3	52512227	52512227	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:52512227G>A	ENST00000345716.4	+	10	1236	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000479054.1_Missense_Mutation_p.E368K|NISCH_ENST00000420808.2_Missense_Mutation_p.E368K|NISCH_ENST00000488380.1_Missense_Mutation_p.E368K	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	368	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAACCTCCTAGAGAGTCTGAG	0.542000													8	81					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146541	154146541	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr3:154146541G>A	ENST00000389740.2	-	1	963	c.864C>T	c.(862-864)tgC>tgT	p.C288C		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	288						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTCACGCCTGCAGGCTTCAG	0.652000													40	86					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21795231	21795231	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:21795231G>A	ENST00000318220.6	+	6	1064	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	NBPF3_ENST00000318249.5_Missense_Mutation_p.G62S|NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Missense_Mutation_p.G62S			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	62						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGTATCTGCCGGCCCTTGGTC	0.517000											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	167					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	51					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149399062	149399062	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:149399062C>T	ENST00000609879.1	-	0	514				HIST2H2BB_ENST00000609585.1_RNA																							TACACGTAAACGGAGTAGCTC	0.572000													22	179					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187833	152187833	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:152187833G>C	ENST00000368801.2	-	3	6347	c.6272C>G	c.(6271-6273)tCt>tGt	p.S2091C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2091					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCTGGAAGACCGACCGGA	0.622000													9	96					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89160267	89160267	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:89160267C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							AACTAATTTTCTATCCCTTAC	0.373000													3	12					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25599566	25599566	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:25599566T>C	ENST00000232165.3	-	11	2944	c.2288A>G	c.(2287-2289)gAt>gGt	p.D763G	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.D743G|UBE3A_ENST00000438097.1_Missense_Mutation_p.D743G|UBE3A_ENST00000397954.2_Missense_Mutation_p.D766G|UBE3A_ENST00000566215.1_Missense_Mutation_p.D743G	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	766					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCTTGGAAATCTAGATTCTG	0.363000													14	47					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231926974	231926974	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:231926974C>A	ENST00000308696.6	+	3	235	c.73C>A	c.(73-75)Cac>Aac	p.H25N	PSMD1_ENST00000373635.4_Missense_Mutation_p.H25N|PSMD1_ENST00000409643.1_Missense_Mutation_p.H25N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	25					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 regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATTTGCACTACACAAATTGAA	0.294000													3	25					1	1	1	1	0
RYR1	6261	broad.mit.edu	37	19	38976604	38976604	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:38976604C>T	ENST00000355481.4	+	34	5440	c.5309C>T	c.(5308-5310)tCg>tTg	p.S1770L	RYR1_ENST00000360985.3_Missense_Mutation_p.S1770L|RYR1_ENST00000359596.3_Missense_Mutation_p.S1770L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1770	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			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)	GTCACCACTTCGCTGAGGCCC	0.682000													10	84					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133723133	133723133	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:133723133G>C	ENST00000523829.1	-	9	1031	c.910C>G	c.(910-912)Caa>Gaa	p.Q304E	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TAAAACACTTGATTCCAAGTA	0.343000													4	28					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100502272	100502272	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:100502272T>C	ENST00000279907.7	-	2	311	c.99A>G	c.(97-99)gaA>gaG	p.E33E	UHRF1BP1L_ENST00000356828.3_Silent_p.E33E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	33										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCAGTTCACCTTCTCCTTTAA	0.328000													10	56					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938808	14938808	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:14938808C>T	ENST00000322301.3	-	2	333	c.246G>A	c.(244-246)ctG>ctA	p.L82L	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.L82L			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGATGTTCATCAGCATTTTTG	0.443000													21	145					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745616	140745616	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:140745616G>A	ENST00000518069.1	+	1	1719	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTTCCACGGGCGTGGAGC	0.617000													34	156					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250786	35250786	+	Missense_Mutation	SNP	C	C	G	rs142778619	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:35250786C>G	ENST00000329285.8	-	4	1293	c.920G>C	c.(919-921)cGa>cCa	p.R307P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R307L(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGGTTTTTCTCGAGTGTGAGT	0.413000													15	107					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898920	175898920	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr4:175898920C>A	ENST00000359240.3	+	5	2914	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	ADAM29_ENST00000404450.4_Silent_p.S748S|ADAM29_ENST00000445694.1_Silent_p.S748S|ADAM29_ENST00000514159.1_Silent_p.S748S|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	748	9 X 9 AA approximate repeats.			S -> Y (in Ref. 2; AAF22163).	proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGACGCCTTCCCAGAGTCATC	0.537000													17	98					2.5808e-16	2.91228e-16	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47930194	47930194	+	Missense_Mutation	SNP	C	C	T	rs147468517	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:47930194C>T	ENST00000289672.2	-	16	2671	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	874	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAAGAGTTCCGGCCACCACT	0.567000													8	119					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	66					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082333	16082333	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:16082333C>G	ENST00000281043.3	+	2	444	c.147C>G	c.(145-147)atC>atG	p.I49M	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	49					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGGAGGACATCTGGAAGAAGT	0.662000			A		neuroblastoma								4	35					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50154451	50154451	+	Silent	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:50154451C>G	ENST00000284509.6	-	27	3429	c.3288G>C	c.(3286-3288)ctG>ctC	p.L1096L	ATP8B4_ENST00000559829.1_Silent_p.L1096L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1096					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTGATCACTCAGGGTTGGGT	0.448000													9	57					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530723	47530723	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:47530723G>T	ENST00000426342.1	-	7	1106	c.360C>A	c.(358-360)atC>atA	p.I120I	MDGA2_ENST00000357362.3_Silent_p.I120I|MDGA2_ENST00000399232.2_Silent_p.I349I|MDGA2_ENST00000439988.3_Silent_p.I418I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	349	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGCCAATCTGGATGTTGTCAT	0.363000													11	44					1.08611e-07	1.20897e-07	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53611263	53611263	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:53611263G>C	ENST00000342160.3	-	40	5501	c.5044C>G	c.(5044-5046)Ctc>Gtc	p.L1682V	HUWE1_ENST00000262854.6_Missense_Mutation_p.L1682V|HUWE1_ENST00000218328.8_Intron			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1682					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCCTGAGGAGAGTCAGCATC	0.403000													7	58					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186383914	186383914	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:186383914G>A	ENST00000232003.4	+	1	174	c.94G>A	c.(94-96)Gag>Aag	p.E32K	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	32	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			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)		GCCGGAGGCTGAGAAAGCTCT	0.498000													30	51					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56997186	56997186	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:56997186G>C	ENST00000179765.5	-	19	3345	c.3146C>G	c.(3145-3147)tCt>tGt	p.S1049C	BAZ2A_ENST00000549884.1_Missense_Mutation_p.S1079C|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S1051C|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1081C			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1081					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGGATGCTAGATGCTGTGGC	0.433000													9	33					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118464799	118464799	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:118464799C>G	ENST00000392542.2	+	9	1239	c.706C>G	c.(706-708)Caa>Gaa	p.Q236E	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Missense_Mutation_p.Q172E|RFC5_ENST00000454402.2_Missense_Mutation_p.Q257E	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	257					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGTTGAATCAAGATTTCAC	0.547000													46	124					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897155	175897155	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr4:175897155C>T	ENST00000359240.3	+	5	1149	c.479C>T	c.(478-480)tCa>tTa	p.S160L	ADAM29_ENST00000404450.4_Missense_Mutation_p.S160L|ADAM29_ENST00000445694.1_Missense_Mutation_p.S160L|ADAM29_ENST00000514159.1_Missense_Mutation_p.S160L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	160					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAACAATTTTCAACCATGAGA	0.368000													9	64					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54387438	54387438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:54387438C>T	ENST00000263431.3	+	3	508	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PRKCG_ENST00000542049.1_5'UTR|PRKCG_ENST00000540413.1_Nonsense_Mutation_p.R76*|PRKCG_ENST00000536044.1_Nonsense_Mutation_p.R76*	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	76					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGTTCATCGACGATGCCACGA	0.567000													24	60					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8151193	8151193	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:8151193G>T	ENST00000600128.1	-	55	7185	c.6771C>A	c.(6769-6771)caC>caA	p.H2257Q	FBN3_ENST00000601739.1_Missense_Mutation_p.H2257Q|FBN3_ENST00000270509.2_Missense_Mutation_p.H2257Q			Q75N90	FBN3_HUMAN	fibrillin 3	2257	EGF-like 37; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGCTGAGCGTGGCATTCAT	0.647000													16	123					1.15088e-07	1.2753e-07	1	1	0
PRDM13	59336	broad.mit.edu	37	6	100061944	100061944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:100061944C>T	ENST00000369215.4	+	4	1738	c.1433C>T	c.(1432-1434)gCt>gTt	p.A478V		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCCACCACCGCTTATTACCCG	0.637000													4	63					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495618	94495618	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr9:94495618C>A	ENST00000375708.3	-	6	921	c.723G>T	c.(721-723)gcG>gcT	p.A241A	ROR2_ENST00000375715.1_Silent_p.A101A|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	241	FZ.				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			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						TCCGGGAGCGCGCGTCGCACA	0.652000													14	15					1.5842e-08	1.77951e-08	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64421483	64421483	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:64421483G>C	ENST00000358025.3	+	8	867	c.637G>C	c.(637-639)Ggg>Cgg	p.G213R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G213R|SYNE2_ENST00000341472.5_Missense_Mutation_p.G213R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G213R|SYNE2_ENST00000356081.3_Missense_Mutation_p.G213R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	213	Actin-binding.|CH 2.				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			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)		TTGGAGAAATGGGATGGCTTT	0.393000													6	35					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218480886	218480886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:218480886C>G	ENST00000366932.3	+	4	647	c.617C>G	c.(616-618)tCc>tGc	p.S206C		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	206						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TCAACTGTTTCCAAGAAAGAT	0.358000													3	44					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66620608	66620608	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:66620608G>T	ENST00000261233.4	+	7	1180	c.759G>T	c.(757-759)ttG>ttT	p.L253F	IRAK3_ENST00000457197.2_Missense_Mutation_p.L192F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	253	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTGACAGATTGCAGTGTGTAG	0.428000													3	41					0.115264	0.116209	1	1	0
CYTH4	27128	broad.mit.edu	37	22	37699296	37699296	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr22:37699296C>T	ENST00000248901.6	+	8	736	c.549C>T	c.(547-549)gaC>gaT	p.D183D		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	183	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCTCCGCAGACACCTGCTACG	0.617000													17	98					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54186019	54186019	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:54186019C>T	ENST00000375180.2	-	2	786	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	FAM120C_ENST00000328235.4_Missense_Mutation_p.E244K	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	244										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCACCACTTCCAAATGGTGG	0.463000													12	52					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107754479	107754479	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:107754479G>A	ENST00000445937.1	+	14	2526	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	OXR1_ENST00000452423.2_Silent_p.L203L|OXR1_ENST00000531443.1_Silent_p.L755L|OXR1_ENST00000297447.6_Silent_p.L152L|OXR1_ENST00000521592.1_Silent_p.L28L|OXR1_ENST00000517566.2_Silent_p.L782L|OXR1_ENST00000442977.2_Silent_p.L783L|OXR1_ENST00000312046.6_Silent_p.L748L|OXR1_ENST00000449762.2_Silent_p.L125L	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	783	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTGAGCCACTGAAAGTGAGTG	0.338000													9	56					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71374610	71374610	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:71374610G>A	ENST00000304743.2	+	1	489	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PCNX_ENST00000238570.5_Missense_Mutation_p.A15T|PCNX_ENST00000439984.3_Missense_Mutation_p.A15T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	15						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGGGTGTGGGCCGCGCTCAG	0.751000													4	9					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679219	87679219	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:87679219G>C	ENST00000320005.5	-	6	833	c.786C>G	c.(784-786)atC>atG	p.I262M		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	262					signal transduction|visual perception	integral to membrane	cGMP binding	p.I262I(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAAGGTAGATGATATCACATA	0.428000													8	73					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35047314	35047314	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:35047314G>A	ENST00000360359.3	+	15	2443	c.2305G>A	c.(2305-2307)Ggg>Agg	p.G769R	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	769						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGTTATGACGGGAACAGCCC	0.597000													7	42					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167060	140167060	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:140167060C>T	ENST00000504120.2	+	1	1185	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PCDHA1_ENST00000378133.3_Silent_p.F395F|PCDHA1_ENST00000394633.3_Silent_p.F395F	NM_018900.2	NP_061723.1														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)			ACGTCCCCTTCAAGCTGGTGT	0.602000													27	119					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118469031	118469031	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:118469031C>G	ENST00000392542.2	+	12	1441	c.908C>G	c.(907-909)tCc>tGc	p.S303C	RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_Missense_Mutation_p.S239C|RFC5_ENST00000454402.2_Missense_Mutation_p.S324C	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	324					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGAGCTCCCTCATTGCT	0.493000													16	62					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23115017	23115017	+	RNA	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr22:23115017G>C	ENST00000390313.2	+	0	298																											CAGCAGGATCGAGGCTGGGGA	0.562000													6	16					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18851057	18851057	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:18851057G>C	ENST00000446231.2	-	42	7320	c.6908C>G	c.(6907-6909)tCt>tGt	p.S2303C	SMG1_ENST00000389467.3_Missense_Mutation_p.S2303C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2303	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTGCAAGATGACCAGAG	0.473000													7	88					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92511153	92511153	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:92511153C>T	ENST00000370383.4	+	4	638	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	180						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TAATTGCCATCTGTTATCCTG	0.353000													6	71					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362399	83362399	+	Silent	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:83362399A>T	ENST00000296591.5	-	7	1096	c.678T>A	c.(676-678)gtT>gtA	p.V226V	EDIL3_ENST00000380138.3_Silent_p.V216V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	226	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCACACCAGTAACTCTCATTT	0.353000													10	55					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138982560	138982560	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:138982560A>C	ENST00000473989.3	+	18	4022	c.4022A>C	c.(4021-4023)aAa>aCa	p.K1341T	UBN2_ENST00000288561.8_Missense_Mutation_p.K1258T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGGGACACTAAATTACCACGG	0.398000													16	47					0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743614	38743614	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:38743614C>T	ENST00000591585.1	-	2	394	c.202G>A	c.(202-204)Gag>Aag	p.E68K	PPP1R14A_ENST00000591291.1_Splice_Site_p.E68K|PPP1R14A_ENST00000301242.4_Splice_Site_p.E68K|PPP1R14A_ENST00000347262.4_Intron|PPP1R14A_ENST00000587515.1_5'UTR			Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14A	68	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGTCTGCCTCCTAGGGCCAG	0.612000													23	162					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992421	96992421	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:96992421G>A	ENST00000361124.4	+	1	487	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A10T|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A18T|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A10T	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	18						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCTTGGCAGTGATGTA	0.522000													8	94					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827676	14827676	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:14827676G>C	ENST00000261170.3	-	8	1103	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	323					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAATAGGCAAGAGCAAAGTCT	0.358000													13	95					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675543	100675543	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:100675543C>A	ENST00000306151.4	+	3	910	c.846C>A	c.(844-846)ctC>ctA	p.L282L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	282	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATGCCTCTCAGCGTGATGC	0.502000													21	235					2.27731e-05	2.47884e-05	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130287443	130287443	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:130287443G>C	ENST00000358511.6	+	5	2427	c.2396G>C	c.(2395-2397)cGt>cCt	p.R799P	COL6A6_ENST00000453409.2_Missense_Mutation_p.R799P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	799	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCAGCCCCCGTGAAGGTAGG	0.403000													22	53					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791925	37791925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:37791925G>T	ENST00000254079.4	+	6	980	c.511G>T	c.(511-513)Gag>Tag	p.E171*	PPP1R1B_ENST00000394267.2_Nonsense_Mutation_p.E135*|PPP1R1B_ENST00000394265.1_Nonsense_Mutation_p.E135*|PPP1R1B_ENST00000580825.1_Nonsense_Mutation_p.E171*|PPP1R1B_ENST00000579000.1_Nonsense_Mutation_p.E138*	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	171					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCCTCTGGATGAGTCCGAGAG	0.587000													14	95					1.49906e-05	1.63897e-05	1	1	0
CORO1A	11151	broad.mit.edu	37	16	30199132	30199132	+	Silent	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:30199132C>A	ENST00000219150.5	+	7	1148	c.843C>A	c.(841-843)atC>atA	p.I281I	CORO1A_ENST00000565497.1_Silent_p.I281I|CORO1A_ENST00000570045.1_Silent_p.I281I	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	281					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACACCAACATCGTCTACCTCT	0.652000													4	31					0.00024832	0.000259943	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84685095	84685095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:84685095A>C	ENST00000284136.6	-	7	842	c.799T>G	c.(799-801)Tca>Gca	p.S267A	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S267A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	267	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTGAGATGATTCACGAAAG	0.318000													16	35					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383120	22383120	+	Silent	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:22383120T>G	ENST00000328795.4	+	1	739	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTTCTGGCTTCCTATGCAG	0.502000													7	84					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092377	13092377	+	Splice_Site	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr18:13092377A>G	ENST00000506447.1	+	34	6185	c.6105A>G	c.(6103-6105)gtA>gtG	p.V2035V	CEP192_ENST00000325971.8_Splice_Site_p.V1439V|CEP192_ENST00000430049.2_Splice_Site_p.V1560V|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1630										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTATTTCAGTATATGATCTTC	0.294000													8	30					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389975	82389975	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:82389975G>A	ENST00000333891.9	-	24	15605	c.15268C>T	c.(15268-15270)Cct>Tct	p.P5090S		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCTGCAGGACTTAGACTG	0.313000													4	81					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815207	95815207	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:95815207C>G	ENST00000295208.2	-	5	1485	c.1023G>C	c.(1021-1023)gaG>gaC	p.E341D	ZNF514_ENST00000411425.1_Missense_Mutation_p.E341D	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGTAAGGTTTCTCTCCAGTAT	0.433000													8	53					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186614	50186614	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:50186614G>C	ENST00000335999.6	-	11	3697	c.3496C>G	c.(3496-3498)Ctt>Gtt	p.L1166V		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1162	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTTGGTAAGGGGTGGGGGC	0.672000													3	13					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26994232	26994232	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr10:26994232C>A	ENST00000376215.5	+	4	298	c.245C>A	c.(244-246)cCa>cAa	p.P82Q	PDSS1_ENST00000376203.5_Missense_Mutation_p.P82Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	82					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CACACAACCCCAGACAGTAAA	0.368000													5	40					0.014758	0.0150019	1	1	0
GLG1	2734	broad.mit.edu	37	16	74537566	74537566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:74537566C>A	ENST00000422840.2	-	4	636	c.637G>T	c.(637-639)Gag>Tag	p.E213*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.E213*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.E202*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	213						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACTGATACTCAGTGATGTTG	0.413000													12	85					0.00010058	0.000107577	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350406	50350406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:50350406C>T	ENST00000376020.2	-	6	3761	c.3736G>A	c.(3736-3738)Gga>Aga	p.G1246R	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1246R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1130R	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1246	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTTCCTGTCCCGATGTCCTC	0.488000													4	37					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37790188	37790188	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:37790188G>C	ENST00000254079.4	+	5	763	c.294G>C	c.(292-294)gaG>gaC	p.E98D	PPP1R1B_ENST00000394267.2_Missense_Mutation_p.E62D|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.E62D|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.E98D|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.E65D	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	98					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTGAATGAGAACCAGGCCT	0.552000													13	78					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189406	29189406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:29189406C>T	ENST00000234961.2	+	3	972	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	244					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	p.R244C(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)	GCGCAGTGTGCGCCTGCTGTC	0.642000													6	37					0	0	1	0	0
HERC4	26091	broad.mit.edu	37	10	69682876	69682876	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr10:69682876G>A	ENST00000395198.3	-	26	3233	c.2986C>T	c.(2986-2988)Cgc>Tgc	p.R996C	HERC4_ENST00000373700.4_Missense_Mutation_p.R988C|HERC4_ENST00000277817.6_Missense_Mutation_p.R886C|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.R918C	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	996	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ATAGGAATGCGATCACTACCT	0.393000													9	102					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771829	72771829	+	Missense_Mutation	SNP	C	C	G	rs149888041		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:72771829C>G	ENST00000261180.4	+	3	1204	c.1108C>G	c.(1108-1110)Ctc>Gtc	p.L370V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	370					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGACTATGCTCTCCATATAAC	0.323000													14	79					0	0	1	0	0
AAR2	25980	broad.mit.edu	37	20	34827931	34827931	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:34827931C>T	ENST00000373932.3	+	2	487	c.141C>T	c.(139-141)ggC>ggT	p.G47G	AAR2_ENST00000320849.4_Silent_p.G47G|AAR2_ENST00000397286.3_Silent_p.G47G	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AGTTCCGGGGCGTGAAGATGA	0.542000													8	44					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007110	94007110	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:94007110A>T	ENST00000553484.1	+	13	1611	c.1457A>T	c.(1456-1458)gAc>gTc	p.D486V	UNC79_ENST00000256339.4_Missense_Mutation_p.D309V|UNC79_ENST00000555664.1_Missense_Mutation_p.D486V|UNC79_ENST00000393151.2_Missense_Mutation_p.D486V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	486						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATAATGCTGACTTTGATAAC	0.473000													11	62					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48832431	48832431	+	Splice_Site	SNP	G	G	T	rs144855492	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:48832431G>T	ENST00000376441.1	-	24	2311	c.2277C>A	c.(2275-2277)atC>atA	p.I759I	GRIPAP1_ENST00000376444.3_Splice_Site_p.I714I|GRIPAP1_ENST00000376425.3_Splice_Site_p.I728I	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	759						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GACACTGACCGATCCGGCTGT	0.617000													7	31					0.000157383	0.000166881	1	1	0
GRHL1	29841	broad.mit.edu	37	2	10126289	10126289	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:10126289C>T	ENST00000324907.9	+	9	1284	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	GRHL1_ENST00000405379.2_Missense_Mutation_p.S383F|GRHL1_ENST00000324883.5_Missense_Mutation_p.S194F	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	383					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			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)		ACAGATTTCTCTTCCCAGAAG	0.488000													38	260					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404605	113404605	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:113404605G>A	ENST00000272542.3	+	2	739	c.200G>A	c.(199-201)aGc>aAc	p.S67N		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	67					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ATCCTAGCTAGCATCTTTGAA	0.517000													9	29					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340939	39340939	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:39340939C>T	ENST00000398472.1	-	1	655	c.168G>A	c.(166-168)caG>caA	p.Q56Q				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	56	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAAGTGGTCTGGCAGCAGG	0.657000													7	44					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16025230	16025230	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:16025230C>G	ENST00000402914.1	+	13	1003	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	MACROD2_ENST00000378058.3_Missense_Mutation_p.Q181E|MACROD2_ENST00000407045.3_Missense_Mutation_p.Q67E|MACROD2_ENST00000310348.4_Missense_Mutation_p.Q416E|MACROD2_ENST00000217246.4_Intron	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	416	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AATGAATAGTCAGGTTGACAA	0.338000													5	35					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94910954	94910954	+	Silent	SNP	C	C	T	rs35416438	byFrequency	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:94910954C>T	ENST00000357742.4	+	10	1422	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	MCTP2_ENST00000557742.1_Silent_p.S62S|MCTP2_ENST00000451018.3_Silent_p.S474S|MCTP2_ENST00000331706.4_Silent_p.S62S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	474					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.S474S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGGGGTCTCCGTCTCTGATC	0.547000													6	76					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66620604	66620604	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:66620604G>C	ENST00000261233.4	+	7	1176	c.755G>C	c.(754-756)aGa>aCa	p.R252T	IRAK3_ENST00000457197.2_Missense_Mutation_p.R191T	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	252	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTTTTGACAGATTGCAGTGT	0.428000													4	42					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69549359	69549359	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:69549359C>G	ENST00000374403.3	+	8	965	c.883C>G	c.(883-885)Cga>Gga	p.R295G	KIF4A_ENST00000374388.3_Missense_Mutation_p.R295G	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	295	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAGTTGACTCGACTGCTTCA	0.423000													9	54					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767577	31767577	+	Missense_Mutation	SNP	T	T	A	rs142718315		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:31767577T>A	ENST00000240587.4	-	2	3449	c.3122A>T	c.(3121-3123)tAt>tTt	p.Y1041F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1041					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTGCACTGATAGGAAGTCCC	0.483000													6	35					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	615114	615114	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:615114C>T	ENST00000409413.3	+	3	1802	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	508										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GGCCCTGCAGCGCCCCAACCC	0.716000													5	19					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46267761	46267761	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:46267761G>C	ENST00000372004.3	+	14	2738	c.2522G>C	c.(2521-2523)aGt>aCt	p.S841T	NCOA3_ENST00000371998.3_Missense_Mutation_p.S841T|NCOA3_ENST00000371997.3_Missense_Mutation_p.S851T|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	841					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTTTGAAAAGTTCACAGTCT	0.383000													11	105					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104752891	104752891	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:104752891C>G	ENST00000334877.4	+	26	5096	c.4562C>G	c.(4561-4563)tCt>tGt	p.S1521C	KMT2E_ENST00000257745.4_Missense_Mutation_p.S1563C|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1563C|KMT2E_ENST00000334914.7_Intron					lysine (K)-specific methyltransferase 2E																		CAGCAGCCCTCTGCAAACTTT	0.463000													16	116					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143576	69143576	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:69143576C>T	ENST00000306560.1	+	2	434	c.278C>T	c.(277-279)gCa>gTa	p.A93V	HAS3_ENST00000219322.3_Missense_Mutation_p.A93V|HAS3_ENST00000569188.1_Missense_Mutation_p.A93V	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	93					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCATTGCCGCATACCAGGAG	0.667000													9	40					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82447616	82447616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:82447616C>T	ENST00000370728.1	+	21	3871	c.3226C>T	c.(3226-3228)Cag>Tag	p.Q1076*	LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q1001*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q1091*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q1063*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q1078*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q1076*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q1078*			O95490	LPHN2_HUMAN	latrophilin 2	1076					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATGCTTTCCAGGGAGTGTT	0.378000													8	70					0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56143467	56143467	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:56143467C>T	ENST00000257868.5	+	3	1062	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	342					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						AACTACTGCTCCGGCCAGTGC	0.572000													29	152					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:106691922C>T	ENST00000390607.2	-	0	180																											TCAGGGACCCCCCAGGCTTGA	0.587000													4	178					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132399773	132399773	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:132399773C>G	ENST00000321867.4	+	17	1870	c.1519C>G	c.(1519-1521)Caa>Gaa	p.Q507E		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	507					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			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)		GCCATCTCCTCAAGGTGCGCC	0.662000													5	10					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37388581	37388581	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:37388581G>A	ENST00000338564.5	-	4	742	c.296C>T	c.(295-297)gCg>gTg	p.A99V	MEIS2_ENST00000424352.2_Missense_Mutation_p.A99V|MEIS2_ENST00000444725.1_Missense_Mutation_p.A99V|MEIS2_ENST00000397620.2_Missense_Mutation_p.A11V|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000557796.2_Missense_Mutation_p.A86V|MEIS2_ENST00000382766.2_Missense_Mutation_p.A99V|MEIS2_ENST00000559085.1_Missense_Mutation_p.A86V|MEIS2_ENST00000559561.1_Missense_Mutation_p.A99V|MEIS2_ENST00000397624.3_Missense_Mutation_p.A11V|MEIS2_ENST00000561208.1_Missense_Mutation_p.A99V|MEIS2_ENST00000340545.5_Missense_Mutation_p.A86V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	99					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			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)		AGTGCAGGTCGCCAGCTCGCA	0.622000													11	45					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43982208	43982208	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr21:43982208G>A	ENST00000352133.2	+	12	1984	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	SLC37A1_ENST00000398341.3_Silent_p.L334L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	334					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AGTTCTCACTGTGTCTGCTGT	0.473000													15	106					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599852	3599852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:3599852G>T	ENST00000302006.3	+	2	842	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCTTGCCCGGGACCAAGGCTC	0.687000													4	31					0.00024832	0.000259943	1	1	0
SYNE3	161176	broad.mit.edu	37	14	95934283	95934283	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:95934283C>T	ENST00000334258.5	-	2	180	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E56K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E56K	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						ACACGCCCCTCGGGCTCCAGC	0.602000													7	37					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85431057	85431057	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:85431057G>A	ENST00000394573.1	+	3	268	c.66G>A	c.(64-66)gaG>gaA	p.E22E	SLC28A1_ENST00000538177.1_Silent_p.E22E|SLC28A1_ENST00000338602.2_Silent_p.E22E|SLC28A1_ENST00000537624.1_Silent_p.E22E|SLC28A1_ENST00000286749.3_Silent_p.E22E|SLC28A1_ENST00000537216.1_Silent_p.E22E|SLC28A1_ENST00000537703.1_5'UTR	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	22					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGGTCTGGAGAACATGGGGG	0.567000													6	60					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27137084	27137084	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr21:27137084C>T	ENST00000354828.3	+	9	1649	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	GABPA_ENST00000400075.3_Silent_p.L374L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	374					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ATGAGAAACTCAGTCGTGCAT	0.338000													5	62					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745164	50745164	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:50745164T>C	ENST00000300589.2	+	4	1447	c.1342T>C	c.(1342-1344)Tct>Cct	p.S448P		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	448	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CAAGGGCTTCTCTGAACAGGG	0.637000													17	94					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149492719	149492719	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:149492719C>T	ENST00000378016.2	+	0	6499							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCATGACTATCGTGACCTCCT	0.597000													5	273					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186276	50186276	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:50186276G>A	ENST00000335999.6	-	12	3946	c.3745C>T	c.(3745-3747)Ctc>Ttc	p.L1249F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1245	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGCACATGAGAGGGTCCGAG	0.627000													3	28					0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26765126	26765126	+	Silent	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:26765126A>G	ENST00000345317.2	-	9	1030	c.717T>C	c.(715-717)gaT>gaC	p.D239D	SKAP2_ENST00000539623.1_Silent_p.D67D|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	239					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GATGATCAACATCATCATATA	0.318000													17	29					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023670	32023670	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:32023670C>G	ENST00000375244.3	-	24	8626	c.8425G>C	c.(8425-8427)Gag>Cag	p.E2809Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2809Q			P22105	TENX_HUMAN	tenascin XB	2867	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E2896*(1)|p.E2809*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGCCGCCCCTCGTGGAGGCCG	0.637000													9	74					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143575	69143575	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:69143575G>T	ENST00000306560.1	+	2	433	c.277G>T	c.(277-279)Gca>Tca	p.A93S	HAS3_ENST00000219322.3_Missense_Mutation_p.A93S|HAS3_ENST00000569188.1_Missense_Mutation_p.A93S	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	93					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTGCATTGCCGCATACCAGGA	0.667000													9	40					0.000442599	0.000457477	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2913087	2913087	+	Silent	SNP	T	T	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr18:2913087T>C	ENST00000254528.3	+	8	3006	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	949	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCCTTATGATGGGCGCTACC	0.632000													7	48					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399668	47399668	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:47399668C>G	ENST00000310638.4	-	9	1203	c.1172G>C	c.(1171-1173)aGa>aCa	p.R391T	CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R391T|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R392T|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000462347.1_Missense_Mutation_p.R293T	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	391					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGAGCTCTCTGCCAATGCC	0.577000													6	43					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70786834	70786834	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:70786834G>C	ENST00000358731.4	+	11	1779	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	506					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAGGCCTGAGCTAAAGGA	0.368000													13	46					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55052286	55052286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:55052286G>C	ENST00000330807.5	-	2	285	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	ALAS2_ENST00000335854.4_Missense_Mutation_p.Q50E|ALAS2_ENST00000396198.3_Missense_Mutation_p.Q74E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	50					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGGTGGATTTGAGAACAGTTT	0.507000													10	55					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68660882	68660882	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:68660882G>A	ENST00000328663.4	-	3	1149	c.683C>T	c.(682-684)aCt>aTt	p.T228I	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.T228I|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.T228I	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CATCATATTAGTGGTAATAAG	0.358000													12	40					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71800140	71800140	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:71800140G>A	ENST00000324866.7	+	3	177	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000439209.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000541614.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000536917.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000538478.1_Missense_Mutation_p.R4Q|LRTOMT_ENST00000423494.2_Intron|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000289488.2_Missense_Mutation_p.R4Q|LRTOMT_ENST00000539271.1_Intron			Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	4						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						ATGAACAAACGGGACTATATG	0.522000													4	85					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39911436	39911436	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:39911436C>T	ENST00000342274.4	-	15	5454	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	BCOR_ENST00000378444.4_Missense_Mutation_p.E1732K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1680K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1698K|BCOR_ENST00000378463.1_Missense_Mutation_p.E575K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1732					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.E1698*(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCTGAATTTCGTTCGTGAAT	0.517000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	28					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773308	140773308	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:140773308G>A	ENST00000398604.2	+	1	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGATTATGAAGAATGTTC	0.363000													12	117					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48740973	48740973	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:48740973G>A	ENST00000448928.3	-	3	393	c.338C>T	c.(337-339)tCg>tTg	p.S113L	ZNF641_ENST00000547026.1_Intron|ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000301042.3_Intron	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN	zinc finger protein 641	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GGGCTGATGCGAAAGCAATAC	0.488000													3	25					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368269	37368269	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:37368269C>G	ENST00000361924.2	+	14	5266	c.4892C>G	c.(4891-4893)tCa>tGa	p.S1631*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.S1653*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1631	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGCTTGAGTCAGAAAGTGCT	0.353000													9	112					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114441828	114441828	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:114441828G>T	ENST00000375478.3	-	6	1647	c.1467C>A	c.(1465-1467)gaC>gaA	p.D489E	NXPE4_ENST00000424261.2_Missense_Mutation_p.D205E	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		AACCATGAAAGTCACTAAATC	0.378000													27	61					2.14196e-07	2.36287e-07	1	1	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													3	18					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113320461	113320461	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:113320461C>G	ENST00000264852.4	+	11	1798	c.1072C>G	c.(1072-1074)Ccc>Gcc	p.P358A	SIDT1_ENST00000393830.3_Missense_Mutation_p.P358A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	358						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGCATCTCATCCCATTGCTGC	0.413000													4	44					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16437135	16437135	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr9:16437135G>A	ENST00000380672.4	-	6	1114	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	BNC2_ENST00000545497.1_Missense_Mutation_p.R258W|BNC2_ENST00000380666.2_Missense_Mutation_p.R353W|BNC2_ENST00000380667.2_Missense_Mutation_p.R286W	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R353W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGGTTCCCGCAGCCTCAAC	0.468000													4	84					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712451	95712451	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:95712451G>A	ENST00000524717.1	-	5	4416	c.3132C>T	c.(3130-3132)ctC>ctT	p.L1044L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1044					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGACCCCTGAGGGGACCCA	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								11	28					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38528984	38528984	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr21:38528984C>T	ENST00000399017.2	+	28	5515	c.2768C>T	c.(2767-2769)tCt>tTt	p.S923F	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.S923F|TTC3_ENST00000354749.2_Missense_Mutation_p.S923F	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	923					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACTTTCTTTTCTCGTTATGGA	0.343000													6	71					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5307512	5307512	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:5307512C>G	ENST00000573584.1	-	7	1608	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	367					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCAACACATTCAAACACATAC	0.383000													12	79					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590641	56590641	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:56590641C>G	ENST00000338222.5	+	1	616	c.335C>G	c.(334-336)tCc>tGc	p.S112C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	112						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CAGGGCCAGTCCACGCAGCCT	0.507000													8	45					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913566	16913566	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:16913566C>A	ENST00000430580.2	-	11	1644	c.757G>T	c.(757-759)Gat>Tat	p.D253Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	253	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTTACAGCATCCTGACATTCA	0.438000													22	266					1.36615e-20	1.54872e-20	1	1	0
ATOH8	84913	broad.mit.edu	37	2	85982004	85982004	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:85982004G>T	ENST00000306279.3	+	1	988	c.692G>T	c.(691-693)cGg>cTg	p.R231L	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	231					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CAGCAGACCCGGAGGCTCCTG	0.662000													6	82					0.00116845	0.00120267	1	1	0
RIPPLY2	134701	broad.mit.edu	37	6	84567067	84567067	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:84567067G>C	ENST00000369689.1	+	4	497	c.346G>C	c.(346-348)Gat>Cat	p.D116H	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D58H	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	116					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGAAGATTCTGATAGCGAAGA	0.308000													13	63					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655178	46655178	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:46655178C>T	ENST00000371992.1	-	21	2497	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	POMGNT1_ENST00000371986.3_Missense_Mutation_p.R616Q|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R616Q|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R594Q	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	616					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTTCTTCTTCCGAAACAATCT	0.582000													3	10					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65946311	65946311	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:65946311G>C	ENST00000261892.6	+	10	3481	c.3194G>C	c.(3193-3195)aGa>aCa	p.R1065T	SLC24A1_ENST00000399033.4_Missense_Mutation_p.R1035T|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000339868.6_Missense_Mutation_p.R1047T|SLC24A1_ENST00000544319.2_Missense_Mutation_p.R951T|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R1047T	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1065					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTAAATGGAGAATGAACAAG	0.398000													7	118					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89224388	89224388	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:89224388G>A	ENST00000263317.4	-	1	265	c.27C>T	c.(25-27)ctC>ctT	p.L9L	NOX4_ENST00000527956.1_Intron|NOX4_ENST00000531342.1_Silent_p.L9L|NOX4_ENST00000424319.1_Intron|NOX4_ENST00000525196.1_Silent_p.L9L|NOX4_ENST00000375979.3_Silent_p.L9L|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000542487.1_Intron|NOX4_ENST00000535633.1_5'UTR|NOX4_ENST00000534731.1_Silent_p.L9L|NOX4_ENST00000393282.2_Silent_p.L9L|NOX4_ENST00000527626.1_5'UTR			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	9					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTCGTTGGCGAGCCAGCTCC	0.662000													12	62					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93558043	93558043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:93558043C>T	ENST00000394196.4	+	37	5878	c.4810C>T	c.(4810-4812)Cag>Tag	p.Q1604*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.Q1604*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1604					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.Q1604*(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTTCACCCTCAGAAGCCTCA	0.532000													21	192					0	0	1	0	0
SLX4IP	128710	broad.mit.edu	37	20	10602054	10602054	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:10602054G>C	ENST00000334534.5	+	7	678	c.498G>C	c.(496-498)ctG>ctC	p.L166L		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GAAATGCTCTGAAAGAAATGT	0.423000													10	34					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10078593	10078593	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:10078593G>A	ENST00000264828.3	-	61	4476	c.4391C>T	c.(4390-4392)tCa>tTa	p.S1464L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1464	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGACCCTTTTGAGCCTTTCTG	0.587000													13	96					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640347	104640347	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr4:104640347G>T	ENST00000304883.2	-	1	626	c.486C>A	c.(484-486)aaC>aaA	p.N162K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	162						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAGGAAAGAAGTTCTGGAAGC	0.547000													6	38					5.18039e-06	5.68918e-06	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117301488	117301488	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:117301488G>A	ENST00000321322.6	-	32	5817	c.5816C>T	c.(5815-5817)gCg>gTg	p.A1939V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1669V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1879					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCCGGTCCGCATCCTGGGG	0.657000													4	185					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817937	62817937	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:62817937C>A	ENST00000582986.1	-	0	561					NR_024386.1																						AGGTCTGAGTCATAGGACATG	0.532000													6	25					0.000442599	0.000457477	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2264					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438000													4	155					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341528	25341528	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:25341528G>A	ENST00000330560.3	+	10	1644	c.1167G>A	c.(1165-1167)aaG>aaA	p.K389K	CDCA2_ENST00000380665.3_Silent_p.K374K|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	389					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATATGAGGAAGAGGAAGAGAG	0.348000													11	27					0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43351570	43351570	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:43351570C>T	ENST00000378852.3	+	10	1308	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F	RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000531273.1_Missense_Mutation_p.L395F|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Missense_Mutation_p.L341F|API5_ENST00000534600.1_Missense_Mutation_p.L395F|API5_ENST00000455725.2_Missense_Mutation_p.L384F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	395					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCGCTTAGCTCTCCAGGGTAA	0.388000													8	46					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25573363	25573363	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:25573363G>C	ENST00000243189.7	-	2	368	c.92C>G	c.(91-93)tCg>tGg	p.S31W	C1orf63_ENST00000431849.2_Missense_Mutation_p.S31W|C1orf63_ENST00000417642.2_Missense_Mutation_p.S24W	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	31	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGACCGCGACGACAGCCGGCT	0.642000													13	89					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686724	108686724	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:108686724C>T	ENST00000312143.7	-	3	379	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	CMKLR1_ENST00000412676.1_Missense_Mutation_p.E6K|CMKLR1_ENST00000550402.1_Missense_Mutation_p.E6K|CMKLR1_ENST00000397688.2_Missense_Mutation_p.E4K|CMKLR1_ENST00000552995.1_Missense_Mutation_p.E4K	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	6					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TTGTAATCTTCATCCTCCATT	0.463000													8	47					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395192	186395192	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:186395192C>T	ENST00000232003.4	+	7	1178	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	366	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			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)		gacaccatccccatgcacacc	0.517000													3	11					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6027390	6027390	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:6027390G>C	ENST00000378156.4	-	5	751	c.486C>G	c.(484-486)ctC>ctG	p.L162L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	162					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGGTGCAGGAGGGCTCTGG	0.607000													3	15					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006840	58006840	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:58006840C>T	ENST00000286494.4	+	2	685	c.225C>T	c.(223-225)gtC>gtT	p.V75V	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.V114V|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	75					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGGGCCCGTCAGTGGCCTGA	0.617000													14	35					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18837145	18837145	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr10:18837145C>G	ENST00000377304.4	-	10	1511	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	NSUN6_ENST00000493816.1_5'UTR	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	365							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGCACACCCTCTGGCTTCAGC	0.453000													7	23					0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55855167	55855167	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:55855167G>T	ENST00000255613.3	+	5	754	c.506G>T	c.(505-507)cGg>cTg	p.R169L	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	169	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACCCGCAAGCGGAGTGCTCAG	0.637000													7	19					0.000157383	0.000166881	1	1	0
EIF4A1	1973	broad.mit.edu	37	17	7478464	7478464	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:7478464C>G	ENST00000293831.8	+	4	249	c.233C>G	c.(232-234)tCt>tGt	p.S78C	EIF4A1_ENST00000582746.1_Missense_Mutation_p.S78C|EIF4A1_ENST00000577269.1_Missense_Mutation_p.S78C|EIF4A1_ENST00000380512.5_Missense_Mutation_p.S62C|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	78	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAAGCCCAATCTGGGACTGGG	0.433000													5	71					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112499328	112499328	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:112499328A>T	ENST00000230538.7	-	10	1581	c.1184T>A	c.(1183-1185)aTc>aAc	p.I395N	LAMA4_ENST00000424408.2_Missense_Mutation_p.I388N|LAMA4_ENST00000389463.4_Missense_Mutation_p.I388N|LAMA4_ENST00000522006.1_Missense_Mutation_p.I388N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	395	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTACCTTGGATTTTATCCCT	0.393000													12	48					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304421	28304421	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr21:28304421C>T	ENST00000284987.5	-	6	2072	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGAACCCATTCCACAAAAGTT	0.448000													9	82					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:21806606T>G	ENST00000318220.6	+	14	2151	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 2.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468000													4	30					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76335389	76335389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:76335389A>G	ENST00000312916.7	+	5	1097	c.715A>G	c.(715-717)Att>Gtt	p.I239V		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	239					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTCCACTGGAATTTATTACTA	0.303000													4	12					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925281	188925281	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:188925281G>C	ENST00000345063.3	+	2	275	c.108G>C	c.(106-108)ccG>ccC	p.P36P	TPRG1_ENST00000433971.1_Silent_p.P36P	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	36								p.P36P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		AAGAGGACCCGATGCCAAGAC	0.478000													6	104					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421757	50421757	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:50421757C>T	ENST00000435965.1	-	6	695	c.522G>A	c.(520-522)gaG>gaA	p.E174E	CACNA2D2_ENST00000424201.2_Silent_p.E174E|CACNA2D2_ENST00000479441.1_Silent_p.E174E|CACNA2D2_ENST00000266039.3_Silent_p.E174E|CACNA2D2_ENST00000429770.1_Silent_p.E174E|CACNA2D2_ENST00000395083.1_Silent_p.E174E|CACNA2D2_ENST00000423994.2_Silent_p.E174E|CACNA2D2_ENST00000360963.3_Silent_p.E105E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	174					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATCCTCACTCTCAGGGTCGT	0.562000													37	147					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456900	16456900	+	Silent	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:16456900G>T	ENST00000358432.5	-	15	2644	c.2490C>A	c.(2488-2490)atC>atA	p.I830I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	830	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCATCATTGATGGCTTTCA	0.637000													8	26					0.00448238	0.00459444	1	1	0
RPGR	6103	broad.mit.edu	37	X	38134400	38134400	+	Splice_Site	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:38134400C>G	ENST00000339363.3	-	16	2874		c.e16-1		RPGR_ENST00000338898.3_Splice_Site|RPGR_ENST00000318842.7_Splice_Site|RPGR_ENST00000309513.3_Splice_Site|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTTTTTCTTTCTATAAACAAT	0.328000													6	36					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949691	118949691	+	Silent	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:118949691C>G	ENST00000300793.6	+	14	2289	c.2247C>G	c.(2245-2247)ctC>ctG	p.L749L	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	750					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACAAGAACCTCATGCCACCTC	0.562000													17	51					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595984	36595984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:36595984C>G	ENST00000299440.5	+	2	1242	c.1130C>G	c.(1129-1131)tCa>tGa	p.S377*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	377					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S377*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CACCACATCTCAAGTCACAAG	0.468000									Familial Hemophagocytic Lymphohistiocytosis				7	70					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693072	49693072	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:49693072C>T	ENST00000296452.4	+	5	6197	c.6083C>T	c.(6082-6084)gCg>gTg	p.A2028V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2028					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGGGCTTTGCGGATGGACGC	0.597000													4	121					0	0	1	0	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720845	31720845	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr21:31720845C>A	ENST00000334160.4	-	1	79	c.80G>T	c.(79-81)gGt>gTt	p.G27V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	27						intermediate filament				large_intestine(1)|lung(4)|prostate(1)	6						CGAGGAGCCACCACGGGAGTA	0.557000													28	52					7.76418e-22	8.84254e-22	1	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3481493	3481493	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:3481493T>G	ENST00000324266.5	+	10	1999	c.1804T>G	c.(1804-1806)Tat>Gat	p.Y602D	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Y602D	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	602							binding										AGCTGAAAAGTATTTTCAAGA	0.284000													5	64					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62166352	62166352	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:62166352G>A	ENST00000217185.2	-	2	318	c.291C>T	c.(289-291)aaC>aaT	p.N97N	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	97	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CGCCCGTGGCGTTGCCCTCGG	0.692000													3	19					0	0	1	0	0
TRBV28	28559	broad.mit.edu	37	7	142428782	142428782	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:142428782C>T	ENST00000390400.2	+	0	162																											GGATATGGACCATGAAAATAT	0.423000													4	43					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415891	57415891	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:57415891C>A	ENST00000313949.7	+	1	1119	c.730C>A	c.(730-732)Cgt>Agt	p.R244S	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R244S|GNAS_ENST00000371098.2_Missense_Mutation_p.R244S			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R244G(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCATCCGGCGTCACTAATG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	33					1	1	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16456859	16456859	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:16456859G>A	ENST00000358432.5	-	15	2685	c.2531C>T	c.(2530-2532)tCc>tTc	p.S844F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	844	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTAGATGGCGGAGGGGCAGTC	0.622000													9	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545848	82545848	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:82545848C>T	ENST00000333891.9	-	7	11791	c.11454G>A	c.(11452-11454)aaG>aaA	p.K3818K	PCLO_ENST00000423517.2_Silent_p.K3818K|PCLO_ENST00000437081.1_Silent_p.K538K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCGTTCTCTCTTTTCTCTCT	0.453000													4	68					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142481285	142481285	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:142481285C>A	ENST00000430863.1	-	0	1956					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TTGAAGTCCTCTTTTGGCTGT	0.582000													4	53					0.00909568	0.00928439	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47865756	47865756	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:47865756C>T	ENST00000396105.1	-	14	4051	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1269K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1269							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGTGGGTTTCAGGGTGGTTC	0.557000													10	140					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791935	37791935	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:37791935G>A	ENST00000254079.4	+	6	990	c.521G>A	c.(520-522)aGa>aAa	p.R174K	PPP1R1B_ENST00000394267.2_Missense_Mutation_p.R138K|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.R138K|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.R174K|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.R141K	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	174					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAGTCCGAGAGAGATGGAGGC	0.602000													12	86					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29793211	29793211	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr18:29793211C>T	ENST00000269202.6	+	11	1315	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	MEP1B_ENST00000581447.1_Missense_Mutation_p.S423L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	423	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCAATCTTTCGGAAACACGG	0.438000													8	42					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1653117	1653117	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:1653117C>G	ENST00000356200.3	-	2	277	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	CDK11A_ENST00000378633.1_Missense_Mutation_p.E49Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.E49Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.E49Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.E49Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.E49Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.E15Q					cyclin-dependent kinase 11A									p.E49Q(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						tccccctcctcaagggaatcc	0.408000													8	46					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30826957	30826957	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:30826957G>C	ENST00000256079.4	-	8	1214	c.876C>G	c.(874-876)ttC>ttG	p.F292L	IPO8_ENST00000544829.1_Missense_Mutation_p.F87L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	292					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTTCAAAAAGAATTCAGAAA	0.308000													8	43					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734448	42734448	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:42734448C>T	ENST00000263805.4	-	7	3843	c.3517G>A	c.(3517-3519)Gga>Aga	p.G1173R	ZNF106_ENST00000565380.1_Missense_Mutation_p.G401R|ZNF106_ENST00000565611.1_Missense_Mutation_p.G358R	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		AGAGAGGCTCCGGTGGGTGAT	0.507000													13	66					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365489	37365489	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:37365489G>C	ENST00000233057.4	-	8	933	c.611C>G	c.(610-612)tCt>tGt	p.S204C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S204C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S204C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	204					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTCACCTTCAGATGATGATTC	0.333000													16	82					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46000540	46000540	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:46000540G>A	ENST00000376741.4	+	4	1409	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	424					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TCATCAGCCTGAATGCAGCCC	0.587000													8	45					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067798	60067798	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:60067798C>T	ENST00000505959.1	-	6	674	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	ELOVL7_ENST00000508821.1_Missense_Mutation_p.E63K|ELOVL7_ENST00000438340.1_Missense_Mutation_p.E63K|ELOVL7_ENST00000425382.1_Missense_Mutation_p.E63K			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	63					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTCTTGAGTTCAAAGGGCTTG	0.408000													3	26					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756736	54756736	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:54756736G>A	ENST00000450632.1	-	9	1522	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	LILRB5_ENST00000345866.6_Missense_Mutation_p.S391L|LILRB5_ENST00000316219.5_Missense_Mutation_p.S490L|LILRB5_ENST00000449561.2_Missense_Mutation_p.S491L			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	490					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTACTCACCCGATGTCCTGTG	0.597000													19	152					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:91083357G>A	ENST00000420329.2	+	2	366	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_ENST00000268184.6_Silent_p.A73A|CRTC3_ENST00000560098.1_Silent_p.A73A|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	73	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423000			T	MAML2	salivary gland mucoepidermoid								5	45					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68269852	68269852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:68269852G>A	ENST00000473183.2	-	1	635	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	ESRP2_ENST00000565858.1_Missense_Mutation_p.L33F			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	33					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GCCCCGAAGAGGACGACCAGT	0.746000													3	16					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46718648	46718648	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr13:46718648C>T	ENST00000398576.2	-	14	1570	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	LCP1_ENST00000323076.2_Silent_p.T394T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	394	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		GCTCTTCTCTCGTCTCACCTA	0.393000			T	BCL6	NHL								8	41					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507637	+	Splice_Site	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:64507637T>G	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAG	0.572000													5	63					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817952	62817952	+	RNA	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:62817952C>A	ENST00000582986.1	-	0	546					NR_024386.1																						GACATGGGCTCCTCGCAATGG	0.557000													6	24					0.000274275	0.000285897	1	1	0
GFOD2	81577	broad.mit.edu	37	16	67709613	67709613	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr16:67709613G>C	ENST00000268797.7	-	3	948	c.603C>G	c.(601-603)ctC>ctG	p.L201L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	201						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CGAATGTCTTGAGCAGCCCGT	0.612000													7	43					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35693864	35693864	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:35693864C>T	ENST00000373664.3	-	7	925	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	RBL1_ENST00000344359.3_Missense_Mutation_p.E287K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	287					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AGGAGGCATTCTCCTTTTAAT	0.308000													18	101					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11322787	11322787	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:11322787G>A	ENST00000294618.7	-	36	4543	c.4532C>T	c.(4531-4533)tCg>tTg	p.S1511L	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.S850L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1511	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACCAGGGACGAGAGAGACAT	0.607000													4	18					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639027	74639027	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr18:74639027G>A	ENST00000253159.8	+	23	4254	c.4056G>A	c.(4054-4056)ggG>ggA	p.G1352G	ZNF236_ENST00000320610.9_Silent_p.G1354G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1352					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAGATGGGAGCCTGGCTA	0.438000													8	55					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542335	48542335	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:48542335G>A	ENST00000376701.4	+	1	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	31			E -> K (in WAS).		blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGGACCACGAGAACCAGCGAC	0.622000			"""Mis, N, F, S"""			lymphoma							15	75					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172503	207172503	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:207172503C>G	ENST00000374423.3	+	5	3637	c.3251C>G	c.(3250-3252)tCt>tGt	p.S1084C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1084							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTTTTGATTCTGAACAACTT	0.313000													17	39					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148858099	148858099	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:148858099G>C	ENST00000296051.2	+	2	666	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	176						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATTGGACTTTGAACGTTCTTT	0.353000									Hermansky-Pudlak syndrome				11	87					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089188	86089188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:86089188C>G	ENST00000330753.4	+	2	2097	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V	FLRT2_ENST00000554746.1_Missense_Mutation_p.L444V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	444	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGGCTCTCTCTCTTCACCGT	0.493000													10	36					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737501	247737501	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:247737501C>T	ENST00000366491.2	+	7	662	c.165C>T	c.(163-165)atC>atT	p.I55I	GCSAML_ENST00000366489.1_Silent_p.I55I|GCSAML_ENST00000527084.1_Silent_p.I43I|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Silent_p.I43I|GCSAML_ENST00000536561.1_Silent_p.I55I|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Silent_p.I75I|GCSAML_ENST00000527541.1_Silent_p.I43I	NM_001281834.1	NP_001268763.1			germinal center-associated, signaling and motility-like																		TTAATCACATCCCCCATCAGA	0.453000													13	69					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472745	39472745	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr7:39472745T>A	ENST00000518318.2	+	7	1138	c.1096T>A	c.(1096-1098)Ttg>Atg	p.L366M	POU6F2_ENST00000559001.1_Missense_Mutation_p.L311M|POU6F2_ENST00000403058.1_Missense_Mutation_p.L366M			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	366	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CACTCAGGGCTTGCAAGTGCA	0.587000													7	57					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852031	38852031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:38852031G>A	ENST00000310803.5	-	2	388	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	RASGRP1_ENST00000559830.1_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000539159.1_Nonsense_Mutation_p.Q23*|RASGRP1_ENST00000450598.2_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000558164.1_Nonsense_Mutation_p.Q71*|RASGRP1_ENST00000561180.1_Nonsense_Mutation_p.Q122*	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	71	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CCAAAAGATTGAATGCAGCTG	0.458000													4	21					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876554	196876554	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:196876554C>T	ENST00000367416.2	+	5	859	c.722C>T	c.(721-723)tCc>tTc	p.S241F	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTGCCAGTCCTACTATGAA	0.438000													6	72					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493461	101493461	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:101493461G>T	ENST00000392979.3	+	21	2368	c.2007G>T	c.(2005-2007)atG>atT	p.M669I	ANO4_ENST00000550015.1_Missense_Mutation_p.M224I|ANO4_ENST00000392977.3_Missense_Mutation_p.M704I|ANO4_ENST00000299222.9_Missense_Mutation_p.M224I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	704						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTCAGCCGATGAATGCCTATG	0.338000										HNSCC(74;0.22)			10	68					3.86212e-05	4.16702e-05	1	1	0
ADRM1	11047	broad.mit.edu	37	20	60882753	60882753	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:60882753C>A	ENST00000253003.2	+	7	771	c.725C>A	c.(724-726)cCg>cAg	p.P242Q		NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	242	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCAACTAGCCCGAGCCCCGCG	0.682000													5	28					3.59834e-05	3.89952e-05	1	1	0
DPYD	1806	broad.mit.edu	37	1	98060676	98060676	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:98060676C>T	ENST00000370192.3	-	9	997	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	299					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCCCTGGTCCTGCGTCAGGC	0.393000													12	78					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127680	226127680	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:226127680C>T	ENST00000366820.5	-	2	621	c.273G>A	c.(271-273)gcG>gcA	p.A91A	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.A91A	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	91					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGCCTCCGACGCCAGGAACC	0.701000													4	29					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187184	62187184	+	Silent	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:62187184G>C	ENST00000370098.3	+	2	260	c.168G>C	c.(166-168)ctG>ctC	p.L56L	C20orf195_ENST00000370097.1_Silent_p.L56L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	56										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTCGGACCTGAGTCCGCACC	0.647000													3	45					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704648	109704648	+	Splice_Site	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr13:109704648C>G	ENST00000356711.2	+	25	2933	c.2807C>G	c.(2806-2808)aCt>aGt	p.T936S	MYO16_ENST00000457511.2_Splice_Site_p.T448S|MYO16_ENST00000357550.2_Splice_Site_p.T936S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	936	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TATTTCCTAGCTAGTGAAAAT	0.358000													6	45					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006801	58006801	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:58006801C>T	ENST00000286494.4	+	2	646	c.186C>T	c.(184-186)ctC>ctT	p.L62L	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Silent_p.L101L|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	62					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						gctctggcctcagctctggcc	0.607000													25	45					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68651779	68651779	+	Splice_Site	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:68651779C>T	ENST00000380822.4	-	3	174	c.123G>A	c.(121-123)gaG>gaA	p.E41E	TAF9_ENST00000512561.1_Splice_Site_p.E10E|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Splice_Site_p.E38E	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	41						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CATACAATTGCTCTAAAAGAG	0.284000													14	41					0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12531405	12531405	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:12531405G>A	ENST00000444864.1	+	2	493	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	TSEN2_ENST00000402228.3_Missense_Mutation_p.E36K|TSEN2_ENST00000383797.5_Missense_Mutation_p.E36K|TSEN2_ENST00000314571.7_Missense_Mutation_p.E36K|TSEN2_ENST00000454502.2_Missense_Mutation_p.E36K|TSEN2_ENST00000284995.6_Missense_Mutation_p.E36K|TSEN2_ENST00000415684.1_Missense_Mutation_p.E36K	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	36					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCCTCTGAAAGAATTCAAGAT	0.448000													11	84					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362398	83362398	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr5:83362398T>G	ENST00000296591.5	-	7	1097	c.679A>C	c.(679-681)Act>Cct	p.T227P	EDIL3_ENST00000380138.3_Missense_Mutation_p.T217P|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	227	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATCACACCAGTAACTCTCATT	0.353000													10	56					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6750315	6750315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr19:6750315G>T	ENST00000600428.1	+	12	1562	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Nonsense_Mutation_p.E414*|TRIP10_ENST00000313285.8_Nonsense_Mutation_p.E414*|TRIP10_ENST00000313244.9_Nonsense_Mutation_p.E470*			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	470	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GTGGCTGGCAGAAGCTGAAAG	0.667000													15	85					1.67942e-08	1.87789e-08	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	24					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392687	79392687	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:79392687C>T	ENST00000370742.3	-	8	1030	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	323					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAGAATTATCATAATTTTGA	0.323000													8	54					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412026	63412026	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chrX:63412026C>T	ENST00000330258.3	-	2	1413	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AMER1_ENST00000374869.3_Missense_Mutation_p.E381K|AMER1_ENST00000403336.1_Missense_Mutation_p.E381K	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									tcttcttcctcctcGTCATCA	0.522000													15	79					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37457266	37457266	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:37457266C>T	ENST00000264658.6	-	4	482	c.222G>A	c.(220-222)caG>caA	p.Q74Q	FBXL20_ENST00000583610.1_Silent_p.Q74Q|FBXL20_ENST00000577399.1_Silent_p.Q76Q|FBXL20_ENST00000394294.3_Silent_p.Q74Q	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	74						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CAATATCCCTCTGGAAATCAA	0.403000													4	44					0	0	1	0	0
PCGF1	84759	broad.mit.edu	37	2	74734257	74734257	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:74734257C>G	ENST00000233630.6	-	2	1022	c.111G>C	c.(109-111)aaG>aaC	p.K37N	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	37	No repressor activity.				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						AGTCTTTGATCTTCACTCGAA	0.537000													11	26					0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69556908	69556908	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr10:69556908T>A	ENST00000225171.2	-	5	715	c.563A>T	c.(562-564)gAa>gTa	p.E188V	DNAJC12_ENST00000483798.2_Missense_Mutation_p.E218V	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	188					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CCTCAGGAGTTCTGAGGGAGC	0.403000													5	24					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235391	81235391	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr15:81235391C>G	ENST00000394685.3	+	28	4224	c.3805C>G	c.(3805-3807)Ctg>Gtg	p.L1269V	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L1269V|KIAA1199_ENST00000220244.3_Missense_Mutation_p.L1269V			Q8WUJ3	K1199_HUMAN	KIAA1199	1269										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACTCCATTCTGCAAGGCAT	0.557000													51	329					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102572448	102572448	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:102572448G>A	ENST00000327680.2	+	9	1304	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.E362K|PARPBP_ENST00000392911.2_Missense_Mutation_p.E281K|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.E439K	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	362					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TCTTTTGGACGAAGAAGCAGC	0.368000													8	48					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724730	7724730	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:7724730G>T	ENST00000303635.7	+	9	2330	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G708V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCAAGTCTGGGGAGCTGCAG	0.657000			T	WWTR1	epitheliod hemangioendothelioma								7	61					0.0293803	0.0297431	1	1	0
ACY3	91703	broad.mit.edu	37	11	67414389	67414389	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:67414389C>G	ENST00000255082.3	-	3	296	c.126G>C	c.(124-126)caG>caC	p.Q42H	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	42					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	AGCTGGCTCTCTGCAGCTCTG	0.682000													5	19					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71724868	71724868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:71724868G>C	ENST00000393695.3	-	15	4012	c.3681C>G	c.(3679-3681)atC>atG	p.I1227M	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.I1227M	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1227					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.I1227I(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						CCAAGCTGCTGATGAGGCTAT	0.597000			T	RARA	APL								8	107					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968118	68968118	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr8:68968118G>A	ENST00000288368.4	+	10	1424	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	383					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACAGGGTGAGAAACTTTA	0.373000													5	59					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817983	62817983	+	RNA	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr17:62817983C>G	ENST00000582986.1	-	0	515					NR_024386.1																						TGGAGCCATTCTCTTGGAGTA	0.562000													4	29					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202863851	202863851	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:202863851C>G	ENST00000367261.3	-	9	1380	c.1162G>C	c.(1162-1164)Gat>Cat	p.D388H	KLHL12_ENST00000367259.1_Missense_Mutation_p.D121H|KLHL12_ENST00000435533.3_Missense_Mutation_p.D426H	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	388					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGCTTCCATCAAAGCCTCCA	0.448000													21	127					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119153695	119153695	+	Silent	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:119153695G>A	ENST00000319172.5	-	8	1567	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	383						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGCCGCACCAGCACCCCTTGA	0.458000													24	58					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52512227	52512227	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr3:52512227G>A	ENST00000345716.4	+	10	1236	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	NISCH_ENST00000488380.1_Missense_Mutation_p.E368K|NISCH_ENST00000420808.2_Missense_Mutation_p.E368K|NISCH_ENST00000479054.1_Missense_Mutation_p.E368K|NISCH_ENST00000464280.1_3'UTR	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	368	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAACCTCCTAGAGAGTCTGAG	0.542000													8	81					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184772	130184772	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr12:130184772C>T	ENST00000422113.2	-	2	877	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCCTGCAGCCGGCAGCTGCC	0.692000													8	36					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	51					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149399062	149399062	+	RNA	SNP	C	C	T			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:149399062C>T	ENST00000609879.1	-	0	514				HIST2H2BB_ENST00000609585.1_RNA																							TACACGTAAACGGAGTAGCTC	0.572000													22	179					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187833	152187833	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:152187833G>C	ENST00000368801.2	-	3	6347	c.6272C>G	c.(6271-6273)tCt>tGt	p.S2091C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2091					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCTGGAAGACCGACCGGA	0.622000													9	96					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22216939	22216940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr1:22216939_22216940insA	ENST00000374695.3	-	5	472_473	c.393_394insT	c.(391-396)gttgtcfs	p.V132fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	132	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCACACTGACAACCTGGTCTC	0.619													7	87	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													4	8	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39187404	39187404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr4:39187404delA	ENST00000399820.3	+	2	219	c.65delA	c.(64-66)caafs	p.Q22fs	WDR19_ENST00000506503.1_Frame_Shift_Del_p.Q22fs|WDR19_ENST00000288634.7_5'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	22				Q -> K (in Ref. 1; AAK38745).	cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTTGCCTGGCAAAAAACATCA	0.368													2	4	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43969819	43969819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr6:43969819delA	ENST00000336600.5	+	3	258	c.238delA	c.(238-240)aggfs	p.R80fs	RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_Frame_Shift_Del_p.E94fs|C6orf223_ENST00000442114.2_Frame_Shift_Del_p.R60fs|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	80										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CTCCAGTTTGAGGGAGGAGAG	0.512													2	4	---	---	---	---					
ACTB	60	broad.mit.edu	37	7	5567674	5567676	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr7:5567674_5567676delCTT	ENST00000331789.5	-	5	1134_1136	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	315					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581													41	120	---	---	---	---					
ZNF503	84858	broad.mit.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs72126859		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													4	5	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40136013	40136015	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr11:40136013_40136015delTGT	ENST00000278198.2	-	2	3791_3793	c.1828_1830delACA	c.(1828-1830)acadel	p.T610del	LRRC4C_ENST00000530763.1_In_Frame_Del_p.T610del|LRRC4C_ENST00000527150.1_In_Frame_Del_p.T610del|LRRC4C_ENST00000528697.1_In_Frame_Del_p.T610del			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	610					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTGTGTTAACTGTTGTTGTGTGG	0.404													22	87	---	---	---	---					
ADSSL1	122622	broad.mit.edu	37	14	105190728	105190729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	3a7d2598-5c86-46ab-be19-31a3bd281c16	g.chr14:105190728_105190729insG	ENST00000330877.2	+	1	206_207	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_152328.3	NP_689541.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	41					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGGCGCGCAGTGGGGGGACGAG	0.772													8	5	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													2	4	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842242	154842244	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr1:154842242_154842244delGAA	ENST00000271915.4	-	1	512_514	c.197_199delTTC	c.(196-201)cttcag>cag	p.L66del		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			tgctgctgctgaagctgcggagg	0.700													4	6	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													4	8	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39187404	39187404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr4:39187404delA	ENST00000399820.3	+	2	219	c.65delA	c.(64-66)caafs	p.Q22fs	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Frame_Shift_Del_p.Q22fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	22				Q -> K (in Ref. 1; AAK38745).	cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTTGCCTGGCAAAAAACATCA	0.368													2	4	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43969819	43969819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr6:43969819delA	ENST00000336600.5	+	3	258	c.238delA	c.(238-240)aggfs	p.R80fs	C6orf223_ENST00000442114.2_Frame_Shift_Del_p.R60fs|RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_Frame_Shift_Del_p.E94fs|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	80										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CTCCAGTTTGAGGGAGGAGAG	0.512													2	4	---	---	---	---					
LRRC4C	57689	broad.mit.edu	37	11	40136013	40136015	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr11:40136013_40136015delTGT	ENST00000278198.2	-	2	3791_3793	c.1828_1830delACA	c.(1828-1830)acadel	p.T610del	LRRC4C_ENST00000528697.1_In_Frame_Del_p.T610del|LRRC4C_ENST00000527150.1_In_Frame_Del_p.T610del|LRRC4C_ENST00000530763.1_In_Frame_Del_p.T610del			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	610					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTGTGTTAACTGTTGTTGTGTGG	0.404													22	87	---	---	---	---					
ADSSL1	122622	broad.mit.edu	37	14	105190728	105190729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A6I3-01A-11D-A31L-08	TCGA-GC-A6I3-11A-11D-A31L-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d15cfa4-7514-4e0b-a1d4-5b025d7e15af	2262624d-b7a1-48a4-a36e-c2b8d53f6030	g.chr14:105190728_105190729insG	ENST00000330877.2	+	1	206_207	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_152328.3	NP_689541.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	41					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGGCGCGCAGTGGGGGGACGAG	0.772													8	5	---	---	---	---