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
SEMA3E	9723	broad.mit.edu	37	7	83029502	83029502	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:83029502C>T	ENST00000307792.3	-	11	1675	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R343Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	403	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCTTGCAAATCGGATGGCATC	0.383000													13	90					0	0	1	0	0
GLT1D1	144423	broad.mit.edu	37	12	129467630	129467630	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:129467630G>A	ENST00000442111.2	+	12	1124	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	GLT1D1_ENST00000281703.6_Missense_Mutation_p.D266N|GLT1D1_ENST00000542193.1_Missense_Mutation_p.D263N|GLT1D1_ENST00000537468.1_Missense_Mutation_p.D351N			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	346					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGCACTGAAGATTGAGGGCC	0.532000													16	56					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471743	56471743	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:56471743C>T	ENST00000370754.5	-	39	7583	c.7584G>A	c.(7582-7584)gtG>gtA	p.V2528V	DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Silent_p.V2350V|DST_ENST00000446842.2_Silent_p.V2024V|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Silent_p.V2350V|DST_ENST00000361203.3_Silent_p.V2350V			Q03001	DYST_HUMAN	dystonin	2350					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCCCTGGAGTCACAGCACAGG	0.433000													24	58					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45780353	45780353	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:45780353G>T	ENST00000389061.5	+	18	1761	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C	SACM1L_ENST00000418611.1_Missense_Mutation_p.W416C|SACM1L_ENST00000541314.1_Missense_Mutation_p.W458C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	519						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CAAGGGACTGGAAATTCCTGG	0.328000													11	145					5.50884e-06	6.00796e-06	1	1	0
SNRK	54861	broad.mit.edu	37	3	43389029	43389029	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:43389029G>T	ENST00000296088.7	+	7	1582	c.1278G>T	c.(1276-1278)acG>acT	p.T426T	SNRK_ENST00000429705.2_Silent_p.T426T|SNRK_ENST00000454177.1_Silent_p.T426T|SNRK_ENST00000437827.1_Silent_p.T220T|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	426					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACTCTCTACGGTGCCACCCG	0.547000													3	46					1	1	1	1	0
JARID2	3720	broad.mit.edu	37	6	15512463	15512463	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:15512463G>C	ENST00000341776.2	+	14	3221	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q	JARID2_ENST00000397311.3_Missense_Mutation_p.E821Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	993	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCTGTGCAAAGAGGGGATCAA	0.617000													5	29					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111893835	111893835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:111893835G>A	ENST00000377617.3	-	23	3903	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q941*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q1088*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q985*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q983*|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1248					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGTATTACCTGAGGTACGTGG	0.502000													25	117					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122154824	122154824	+	Silent	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:122154824C>A	ENST00000263710.4	-	30	3404	c.3015G>T	c.(3013-3015)ctG>ctT	p.L1005L	CLASP1_ENST00000545861.1_Silent_p.L751L|CLASP1_ENST00000455322.2_Silent_p.L1000L|CLASP1_ENST00000397587.3_Silent_p.L984L|CLASP1_ENST00000409078.3_Silent_p.L977L|CLASP1_ENST00000541859.1_Silent_p.L761L|CLASP1_ENST00000541377.1_Silent_p.L983L	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1005					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCTGTCTGGCCAGAGACTCAA	0.368000													4	17					0.00024832	0.000259498	1	1	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147630	33147630	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:33147630C>G	ENST00000360668.3	+	4	1055	c.294C>G	c.(292-294)atC>atG	p.I98M	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.I98M|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.I102M|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	98					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TCGCGGACATCTACGAGCAGG	0.632000													9	65					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6417041	6417041	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:6417041G>A	ENST00000389906.2	-	13	2039	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	APBB1_ENST00000299402.6_Missense_Mutation_p.S645L|APBB1_ENST00000608645.1_Missense_Mutation_p.S388L|APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000609360.1_Missense_Mutation_p.S647L|APBB1_ENST00000529519.1_Missense_Mutation_p.S172L|APBB1_ENST00000609331.1_Missense_Mutation_p.S412L|APBB1_ENST00000608655.1_Missense_Mutation_p.S427L|APBB1_ENST00000608704.1_Missense_Mutation_p.S388L|APBB1_ENST00000311051.3_Missense_Mutation_p.S645L|APBB1_ENST00000530885.1_Missense_Mutation_p.S425L|APBB1_ENST00000608394.1_Missense_Mutation_p.S388L			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	647	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACAGCCTCTGAGAGGCTGGC	0.617000													28	34					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936278	220936278	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:220936278C>G	ENST00000366913.3	+	4	834	c.636C>G	c.(634-636)ctC>ctG	p.L212L	MARC2_ENST00000359316.2_Silent_p.L212L	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	212	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ACTGCCCGCTCCTGATCATGA	0.483000													10	42					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209753	100209753	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:100209753G>A	ENST00000409236.2	-	13	2482	c.2370C>T	c.(2368-2370)agC>agT	p.S790S	AFF3_ENST00000409579.1_Silent_p.S815S|AFF3_ENST00000356421.2_Silent_p.S815S|AFF3_ENST00000317233.4_Silent_p.S790S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCAGGGGCGCTCAATACCC	0.572000													3	35					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188478043	188478043	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:188478043G>C	ENST00000312675.4	+	8	1629	c.1383G>C	c.(1381-1383)aaG>aaC	p.K461N	LPP_ENST00000543006.1_Missense_Mutation_p.K461N	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	461	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTGTGGAAAAGAAAGCATACT	0.473000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	37					0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30748220	30748220	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:30748220G>A	ENST00000263056.1	+	8	1759	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D355N|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D355N	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	355	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.D355H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGACATTGCAGATGACTGCAG	0.498000													20	25					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74929212	74929212	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:74929212G>A	ENST00000370891.2	+	23	2418	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R801Q|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R700Q|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R814Q	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase									p.R700L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTGCTGATACGAGGGTGGAAC	0.438000													62	55					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014245	247014245	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:247014245G>A	ENST00000366508.1	-	33	5304	c.5168C>T	c.(5167-5169)aCa>aTa	p.T1723I	AHCTF1_ENST00000326225.3_Missense_Mutation_p.T1697I|AHCTF1_ENST00000391829.2_Missense_Mutation_p.T1688I|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1688	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGTTCCATTGTATCTGAAGT	0.338000													20	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578650	179578650	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:179578650C>T	ENST00000589042.1	-	92	26959	c.26735G>A	c.(26734-26736)aGc>aAc	p.S8912N	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7668N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8595N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8595	Ig-like 72.						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)			AGCTGTGCAGCTGTCTTTGCC	0.413000													5	30					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123339146	123339146	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:123339146G>T	ENST00000360772.3	-	32	5501	c.5123C>A	c.(5122-5124)tCc>tAc	p.S1708Y	MYLK_ENST00000578202.1_5'UTR|MYLK_ENST00000346322.5_Missense_Mutation_p.S1690Y|MYLK_ENST00000354792.5_Missense_Mutation_p.S559Y|MYLK_ENST00000418370.2_5'UTR|MYLK_ENST00000475616.1_Missense_Mutation_p.S1759Y|MYLK_ENST00000359169.1_Missense_Mutation_p.S1708Y|MYLK_ENST00000583087.1_5'UTR|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.S1759Y			Q15746	MYLK_HUMAN	myosin light chain kinase	1759	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCCATAGAGGACAGTCTTCC	0.522000													39	175					2.26627e-22	2.69795e-22	1	1	0
HEATR2	54919	broad.mit.edu	37	7	813704	813704	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:813704G>A	ENST00000297440.6	+	10	1971	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	HEATR2_ENST00000313147.5_Missense_Mutation_p.E651K|HEATR2_ENST00000403952.3_Missense_Mutation_p.E76K	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	651							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGCTACCTCGAGACGGTGAC	0.632000													7	109					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Nonsense_Mutation	SNP	C	C	A	rs112431538		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:7577085C>A	ENST00000420246.2	-	8	985	c.853G>T	c.(853-855)Gag>Tag	p.E285*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	19					8.58068e-18	1.01408e-17	1	1	0
ARIH2	10425	broad.mit.edu	37	3	49006038	49006038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:49006038G>T	ENST00000356401.4	+	7	949	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.E204*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	204					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCTTCCCAATGAAGAATTGAG	0.512000													47	99					1.47857e-17	1.74107e-17	1	1	0
ABCA4	24	broad.mit.edu	37	1	94486818	94486818	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:94486818C>T	ENST00000370225.3	-	35	5082	c.4996G>A	c.(4996-4998)Gag>Aag	p.E1666K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1666					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAGAGCTGCTCCTTGGTCAGG	0.552000													30	97					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349586	100349586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:100349586C>T	ENST00000372930.4	+	2	428	c.145C>T	c.(145-147)Cga>Tga	p.R49*	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	49	Interaction with NGFR (By similarity).					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GAGCTATGTTCGAGCCCTCCC	0.423000													27	50					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772636	33772636	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:33772636C>T	ENST00000285013.6	-	3	339	c.64G>A	c.(64-66)Gga>Aga	p.G22R	SLFN13_ENST00000526861.1_Missense_Mutation_p.G22R|SLFN13_ENST00000533791.1_Missense_Mutation_p.G22R|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.G22R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	22						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTCACTTCTCCGACATCGATG	0.443000													3	63					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122154823	122154823	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:122154823C>A	ENST00000263710.4	-	30	3405	c.3016G>T	c.(3016-3018)Gcc>Tcc	p.A1006S	CLASP1_ENST00000545861.1_Missense_Mutation_p.A752S|CLASP1_ENST00000455322.2_Missense_Mutation_p.A1001S|CLASP1_ENST00000397587.3_Missense_Mutation_p.A985S|CLASP1_ENST00000409078.3_Missense_Mutation_p.A978S|CLASP1_ENST00000541859.1_Missense_Mutation_p.A762S|CLASP1_ENST00000541377.1_Missense_Mutation_p.A984S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1006					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ATCTGTCTGGCCAGAGACTCA	0.368000													4	17					0.00024832	0.000259498	1	1	0
CCM2	83605	broad.mit.edu	37	7	45112324	45112324	+	Splice_Site	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:45112324G>C	ENST00000475551.1	+	7	1487		c.e7-1		CCM2_ENST00000544363.1_Splice_Site|CCM2_ENST00000258781.6_Splice_Site|CCM2_ENST00000381112.3_Splice_Site|CCM2_ENST00000461377.1_Splice_Site|CCM2_ENST00000541586.1_Splice_Site|CCM2_ENST00000474617.1_Splice_Site			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCTTACAGATGACTCTTC	0.517000													11	29					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512241	61512241	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:61512241C>T	ENST00000266070.4	-	16	5392	c.5067G>A	c.(5065-5067)gcG>gcA	p.A1689A	DIDO1_ENST00000395343.1_Silent_p.A1689A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1689					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGTCCTGCGACGCGAACCCCG	0.652000													14	54					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35182480	35182480	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:35182480C>T	ENST00000156471.5	-	24	2842	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	873						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGCGCTCATCAATGTCT	0.438000													63	99					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145665577	145665577	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:145665577G>T	ENST00000265271.5	+	21	3333	c.3167G>T	c.(3166-3168)cGc>cTc	p.R1056L	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1056					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TATGAGTCTCGCTCATGGCGA	0.338000													11	52					9.70103e-10	1.10239e-09	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46716127	46716127	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:46716127G>A	ENST00000318962.4	-	21	2441	c.2358C>T	c.(2356-2358)ttC>ttT	p.F786F	ALS2CL_ENST00000383742.3_Silent_p.F133F|ALS2CL_ENST00000415953.1_Silent_p.F786F	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	786					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTGGCTGTAGAAGCTGTCCT	0.567000													33	115					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767784	133767784	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:133767784G>A	ENST00000367895.5	+	4	564	c.100G>A	c.(100-102)Gac>Aac	p.D34N	EYA4_ENST00000452339.2_Missense_Mutation_p.D34N|EYA4_ENST00000355286.6_Missense_Mutation_p.D34N|EYA4_ENST00000355167.3_Missense_Mutation_p.D34N|EYA4_ENST00000531901.1_Missense_Mutation_p.D34N|EYA4_ENST00000431403.2_Missense_Mutation_p.D34N|EYA4_ENST00000430974.2_Missense_Mutation_p.D34N|EYA4_ENST00000525849.1_Missense_Mutation_p.D34N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	34					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAAATGCAGGACCTAGCAAG	0.393000													9	117					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541815	44541815	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:44541815C>T	ENST00000436261.1	-	4	614	c.454G>A	c.(454-456)Gtt>Att	p.V152I	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	152					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CCCTTTAAAACTCCTTCATGT	0.408000													48	77					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238833	126238833	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:126238833G>T	ENST00000394329.3	+	1	1280	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	423	Cadherin 4.				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						AATCAAGGTGGCCAGCGCCTT	0.607000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					1	1	1	1	0
ASXL2	55252	broad.mit.edu	37	2	25990551	25990551	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:25990551G>C	ENST00000435504.4	-	8	969	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	ASXL2_ENST00000336112.4_Missense_Mutation_p.Q198E|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	226	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGTTTTGAGGGCTGCCT	0.418000													16	81					0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16666173	16666173	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:16666173G>A	ENST00000595753.1	-	5	809	c.792C>T	c.(790-792)ctC>ctT	p.L264L	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	264					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TGACAGCCAGGAGCAGGAGCG	0.587000													8	39					0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78453948	78453948	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:78453948C>T	ENST00000299518.2	+	5	398	c.315C>T	c.(313-315)gcC>gcT	p.A105A	IDH3A_ENST00000441490.2_5'UTR|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	105					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CAATAGCAGCCGGTCACCCAT	0.478000													11	73					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36551572	36551572	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:36551572G>C	ENST00000207457.3	+	4	545	c.418G>C	c.(418-420)Gag>Cag	p.E140Q		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	140					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCATAAAGAGGTGGAGGT	0.587000													3	14					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													4	51					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91924390	91924390	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:91924390C>T	ENST00000265742.3	+	2	474	c.98C>T	c.(97-99)tCt>tTt	p.S33F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	33							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTAAAAGAATCTCTTGATCCA	0.373000													5	9					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299107	117299107	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:117299107C>G	ENST00000321322.6	-	33	6280	c.6279G>C	c.(6277-6279)tcG>tcC	p.S2093S	DSCAML1_ENST00000527706.1_Silent_p.S1823S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2033					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)		TCCCTACCCCCGATGTGCTCA	0.697000													23	32					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122680564	122680564	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:122680564C>G	ENST00000284273.5	+	14	2295	c.1920C>G	c.(1918-1920)ttC>ttG	p.F640L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	640	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CTGGGGGCTTCAACTGGAGAG	0.448000													12	50					0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11886994	11886994	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr18:11886994G>A	ENST00000588072.1	-	7	1821	c.600C>T	c.(598-600)aaC>aaT	p.N200N	MPPE1_ENST00000309976.9_Silent_p.N200N|MPPE1_ENST00000344987.7_Silent_p.N200N|MPPE1_ENST00000399978.2_Silent_p.N200N|MPPE1_ENST00000317235.7_Silent_p.N200N	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	200					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGCCATCCCCGTTCAGCGCCA	0.542000													14	87					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96361533	96361533	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:96361533G>A	ENST00000266736.2	+	9	1299		c.e9-1			NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1						histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTTTTTCTAGATGGGAGCAT	0.264000													3	21					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111768791	111768791	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:111768791C>T	ENST00000452346.2	+	8	1063	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R228W			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	354	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTCAGGAATCCGGGCATATTT	0.353000													24	93					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186113310	186113310	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:186113310G>A	ENST00000271588.4	+	90	14159	c.13930G>A	c.(13930-13932)Gga>Aga	p.G4644R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4644R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4644	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCAGTTCATGGAGCATGGAG	0.418000													16	66					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096082	178096082	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:178096082C>T	ENST00000397062.3	-	5	1803	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	NFE2L2_ENST00000446151.2_Missense_Mutation_p.V394M|NFE2L2_ENST00000397063.4_Missense_Mutation_p.V401M|NFE2L2_ENST00000464747.1_Missense_Mutation_p.V401M	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	417					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GCATCATGCACGTGAGTGCTC	0.478000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			37	140					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70994234	70994234	+	Silent	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:70994234A>C	ENST00000379983.2	-	1	413	c.21T>G	c.(19-21)tcT>tcG	p.S7S	UACA_ENST00000539319.1_Intron|UACA_ENST00000560441.1_Silent_p.S7S|UACA_ENST00000322954.6_Intron	NM_001008224.1	NP_001008225.1	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	0						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAGGAGTACAAGAAAACCAAC	0.353000													17	39					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24769920	24769920	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr14:24769920G>A	ENST00000267425.3	+	2	647	c.554G>A	c.(553-555)gGa>gAa	p.G185E	NOP9_ENST00000396802.3_Missense_Mutation_p.G185E	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		CTGGTCCTGGGACTAGCCGCT	0.567000													20	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179475795	179475795	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:179475795C>T	ENST00000589042.1	-	270	51285	c.51061G>A	c.(51061-51063)Gat>Aat	p.D17021N	TTN_ENST00000460472.2_Missense_Mutation_p.D7956N|TTN_ENST00000342992.6_Missense_Mutation_p.D14453N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8081N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8148N|TTN_ENST00000591111.1_Missense_Mutation_p.D15380N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15380	Fibronectin type-III 23.						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)			ATTCCGGCATCTGCACGGACA	0.398000													20	88					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561497	232561497	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:232561497C>T	ENST00000366630.1	-	17	4826	c.4468G>A	c.(4468-4470)Gag>Aag	p.E1490K	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564K|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1490					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGATGCTCTCGTCAGACAGC	0.547000													14	38					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41275164	41275164	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:41275164C>T	ENST00000361937.3	-	35	4773	c.4349G>A	c.(4348-4350)cGa>cAa	p.R1450Q	INO80_ENST00000401393.3_Missense_Mutation_p.R1450Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1450	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGTGGACTTTCGGCTCCGGCC	0.642000													13	68					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40162069	40162069	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:40162069C>G	ENST00000373233.3	-	3	351	c.174G>C	c.(172-174)caG>caC	p.Q58H	CHD6_ENST00000373222.3_Missense_Mutation_p.Q93H|CHD6_ENST00000309279.7_Missense_Mutation_p.Q58H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	58					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACAGGTCCTTCTGAGGCAGAC	0.458000													22	61					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723354	30723354	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:30723354G>C	ENST00000361762.2	+	1	1318	c.310G>C	c.(310-312)Gac>Cac	p.D104H	PCDH7_ENST00000543491.1_Missense_Mutation_p.D104H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	104	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GATGATCTTCGACGAGAACGA	0.597000													3	11					0	0	1	0	0
NME3	4832	broad.mit.edu	37	16	1820963	1820963	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:1820963G>A	ENST00000219302.3	-	4	506	c.311C>T	c.(310-312)tCg>tTg	p.S104L	NME3_ENST00000563498.1_Missense_Mutation_p.S20L	NM_002513.2	NP_002504.2	Q13232	NDK3_HUMAN	NME/NM23 nucleoside diphosphate kinase 3	104					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GAGCGCCCGCGAGGTGCGCAC	0.741000													4	22					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74742968	74742968	+	Silent	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:74742968G>C	ENST00000233638.7	+	2	932	c.609G>C	c.(607-609)acG>acC	p.T203T		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	203						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						AGGTCAAAACGTGGTTCCAGA	0.701000													6	19					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			27	38					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648704	85648704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:85648704G>A	ENST00000341460.5	-	3	1670	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	541					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTTAGCTTTCGGCTAAATTCT	0.338000													62	111					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10577863	10577863	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:10577863G>A	ENST00000380702.2	+	16	2161	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	PDE4A_ENST00000344979.3_Missense_Mutation_p.E504K|PDE4A_ENST00000352831.6_Missense_Mutation_p.E743K|PDE4A_ENST00000293683.5_Missense_Mutation_p.E717K|PDE4A_ENST00000440014.2_Missense_Mutation_p.E682K|PDE4A_ENST00000592685.1_Missense_Mutation_p.E721K			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	743	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTCAGGAGTCGAGGAAGCTCT	0.587000													14	40					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53592082	53592082	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:53592082C>T	ENST00000342160.3	-	49	7283	c.6826G>A	c.(6826-6828)Gag>Aag	p.E2276K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2276K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2276					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						GCATCCTGCTCAGACTTGTTC	0.517000													18	11					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811385	144811385	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:144811385C>T	ENST00000388913.3	-	3	681	c.556G>A	c.(556-558)Gcg>Acg	p.A186T		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	186					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTGCTGCGCGTTCATCTCA	0.617000													15	70					0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2512512	2512512	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:2512512G>A	ENST00000569496.1	+	7	906	c.847G>A	c.(847-849)Gag>Aag	p.E283K	C16orf59_ENST00000483320.1_Missense_Mutation_p.E116K|C16orf59_ENST00000563531.1_Missense_Mutation_p.E283K|C16orf59_ENST00000361837.4_Missense_Mutation_p.E283K			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	283										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GCGCATGAGGGAGGAGCTCTC	0.692000													3	8					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110850861	110850861	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr13:110850861G>A	ENST00000375820.4	-	21	1359	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P413L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	413	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGAGGACCCGGGAGCCCATC	0.592000													14	46					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714248	35714248	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr9:35714248C>T	ENST00000314888.9	-	24	3461	c.3108G>A	c.(3106-3108)acG>acA	p.T1036T	TLN1_ENST00000540444.1_Silent_p.T1036T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1036					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGGGCAGCCGTCCGGAGTT	0.552000													5	44					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880543	237880543	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:237880543G>A	ENST00000366574.2	+	72	10686	c.10369G>A	c.(10369-10371)Gat>Aat	p.D3457N	RYR2_ENST00000360064.6_Missense_Mutation_p.D3455N|RYR2_ENST00000542537.1_Missense_Mutation_p.D3441N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3457					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)			GCGCAAAGGAGATCGGTATTC	0.493000													6	14					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15512550	15512550	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:15512550G>T	ENST00000341776.2	+	14	3308	c.3064G>T	c.(3064-3066)Ggg>Tgg	p.G1022W	JARID2_ENST00000397311.3_Missense_Mutation_p.G850W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1022	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGTGCTGTGGGTACAGCGT	0.587000													18	81					6.94344e-10	7.91796e-10	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112407467	112407467	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:112407467G>C	ENST00000312814.6	-	5	2439	c.1879C>G	c.(1879-1881)Ctg>Gtg	p.L627V	TMEM168_ENST00000454074.1_Missense_Mutation_p.L627V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGCAAATGCAGAGTGTAGTCA	0.453000													6	77					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86373192	86373192	+	Splice_Site	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:86373192C>T	ENST00000410111.3	-	14	2049	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q	IMMT_ENST00000442664.2_Splice_Site_p.Q553Q|IMMT_ENST00000409051.2_Splice_Site_p.Q507Q|IMMT_ENST00000449247.2_Splice_Site_p.Q543Q|IMMT_ENST00000254636.5_Splice_Site_p.Q455Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	554						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCTTACTCTGAACAGCCT	0.358000													5	16					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193919	139193919	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:139193919G>T	ENST00000274710.3	+	4	1191	c.986G>T	c.(985-987)cGc>cTc	p.R329L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	329	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCCAGCGCTGTGATGTG	0.642000													3	16					0.115264	0.116338	1	1	0
CFI	3426	broad.mit.edu	37	4	110667478	110667478	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:110667478A>C	ENST00000394634.2	-	11	1536	c.1329T>G	c.(1327-1329)gaT>gaG	p.D443E	CFI_ENST00000512148.1_Missense_Mutation_p.D436E|CFI_ENST00000394635.3_Missense_Mutation_p.D451E	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	443	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		GCAGCTCACAATCTTTTTTGT	0.418000													13	58					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819227	43819227	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:43819227C>T	ENST00000382031.1	+	5	6301	c.6270C>T	c.(6268-6270)ctC>ctT	p.L2090L	MAP1A_ENST00000399453.1_Silent_p.L1852L|MAP1A_ENST00000300231.5_Silent_p.L1852L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1852						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACAGACCCCTCCCCCCTGCAC	0.617000													3	18					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905400	153905400	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:153905400C>T	ENST00000361217.4	-	22	3978	c.3560G>A	c.(3559-3561)tGc>tAc	p.C1187Y		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1187										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGAAGGGGCAGGTTGTGTT	0.602000													6	52					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77305450	77305450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:77305450C>A	ENST00000388914.3	-	5	669	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E173*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	173										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CGTAGTTGCTCTATCTGTGTG	0.403000													20	87					4.96729e-08	5.54766e-08	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139601497	139601497	+	Nonstop_Mutation	SNP	T	T	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:139601497T>A	ENST00000303045.6	-	65	5326	c.4880A>T	c.(4879-4881)tAa>tTa	p.*1627L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonstop_Mutation_p.*1607L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	0					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGAGTCCTTTAGGGACCCTT	0.577000										HNSCC(7;0.00092)			5	13					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109309796	109309796	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:109309796T>C	ENST00000436639.2	-	9	2264	c.1519A>G	c.(1519-1521)Acc>Gcc	p.T507A	SESN1_ENST00000302071.2_Missense_Mutation_p.T382A|SESN1_ENST00000356644.7_Missense_Mutation_p.T448A	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	448					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ATTCTTTTGGTAACCTTTTCA	0.358000													16	20					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15513564	15513564	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:15513564G>A	ENST00000341776.2	+	16	3605	c.3361G>A	c.(3361-3363)Gac>Aac	p.D1121N	JARID2_ENST00000397311.3_Missense_Mutation_p.D949N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1121					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CACGGTGGCGGACGGGAAGAA	0.632000													4	7					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169388373	169388373	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:169388373C>T	ENST00000545005.1	-	5	1600	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E365K|CCDC181_ENST00000367806.3_Missense_Mutation_p.E365K|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		TTTTCTTTCTCTTCTTCTATT	0.323000													9	78					0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125379252	125379252	+	Splice_Site	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:125379252G>A	ENST00000521654.2	+	3	1281	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	RNF217_ENST00000359704.2_Splice_Site_p.K135K|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000275184.6_Splice_Site_p.K71K|RNF217_ENST00000560949.1_Splice_Site_p.K192K			Q8TC41	RN217_HUMAN	ring finger protein 217	135					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		CAAAGTGCAAGGTGAGATAAC	0.398000													8	54					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734771	7734771	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:7734771C>G	ENST00000572933.1	+	81	13983	c.12523C>G	c.(12523-12525)Caa>Gaa	p.Q4175E	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q4175E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4175					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGGGACTCAAAAACTGCT	0.532000													44	17					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42473007	42473007	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:42473007C>T	ENST00000545399.1	-	20	2941	c.2788G>A	c.(2788-2790)Gtt>Att	p.V930I	ATP1A3_ENST00000302102.5_Missense_Mutation_p.V917I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V887I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V928I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	917					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGGACGACAACGATGCTCACA	0.602000													24	50					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62374061	62374061	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:62374061G>A	ENST00000371158.2	+	25	3513	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	INADL_ENST00000316485.6_Silent_p.L1133L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1133	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAGTAGATTTGCAGAATGCCT	0.413000													9	36					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101562620	101562620	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:101562620C>G	ENST00000284395.5	+	16	2276	c.1876C>G	c.(1876-1878)Cag>Gag	p.Q626E	LRRK1_ENST00000388948.3_Missense_Mutation_p.Q629E			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	629					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGCGTGCTCAGCTGCGGAA	0.547000													31	64					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458852	25458852	+	RNA	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:25458852G>A	ENST00000424208.1	+	0	2694				SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA	NR_003305.1																						TAAAAATCATGCTCAATAGGA	0.502000													36	174					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86373211	86373211	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:86373211C>A	ENST00000410111.3	-	14	2030	c.1643G>T	c.(1642-1644)gGa>gTa	p.G548V	IMMT_ENST00000442664.2_Missense_Mutation_p.G547V|IMMT_ENST00000409051.2_Missense_Mutation_p.G501V|IMMT_ENST00000449247.2_Missense_Mutation_p.G537V|IMMT_ENST00000254636.5_Missense_Mutation_p.G449V	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	548						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTTCGATTCCTCTGAGTCT	0.358000													6	19					8.12818e-05	8.63288e-05	1	1	0
STEAP1B	256227	broad.mit.edu	37	7	22533247	22533247	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:22533247A>G	ENST00000404369.4	-	3	708	c.293T>C	c.(292-294)tTa>tCa	p.L98S	STEAP1B_ENST00000406890.2_Missense_Mutation_p.L79S	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	79						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						GGAAGTTGCTAAAGGGTGAAT	0.393000													26	69					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	15					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604576	90604576	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:90604576G>A	ENST00000369352.1	+	1	389	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	130					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAGCAGCAAAGAATAGATAGG	0.468000													13	52					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037966	148037966	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:148037966C>A	ENST00000370460.2	+	11	2870	c.2391C>A	c.(2389-2391)aaC>aaA	p.N797K	AFF2_ENST00000342251.3_Missense_Mutation_p.N764K|AFF2_ENST00000370457.5_Missense_Mutation_p.N764K|AFF2_ENST00000286437.5_Missense_Mutation_p.N438K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	797					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATGAGAACCTGAAAAACC	0.478000													23	41					7.87624e-14	9.07723e-14	1	1	0
NUDT7	283927	broad.mit.edu	37	16	77775490	77775490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:77775490G>C	ENST00000563839.1	+	2	85	c.47G>C	c.(46-48)tGa>tCa	p.*16S	NUDT7_ENST00000268533.5_Missense_Mutation_p.L120F|NUDT7_ENST00000564085.1_Missense_Mutation_p.D152H|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Missense_Mutation_p.L67F			P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	0					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CAGATACATTGATAACTCCAT	0.413000													15	84					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667809	23667809	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:23667809G>A	ENST00000217423.3	-	2	328	c.258C>T	c.(256-258)gaC>gaT	p.D86D		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	86						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCACCTCTACGTCGAAGAAGT	0.552000													34	172					0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377255	84377255	+	Missense_Mutation	SNP	G	G	A	rs146170506	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:84377255G>A	ENST00000295491.4	+	1	138	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	MRPS18C_ENST00000507349.1_Missense_Mutation_p.G9S|MRPS18C_ENST00000507019.1_Missense_Mutation_p.G9S	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	9					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TGCTGTTTGCGGTGGTCTAGG	0.557000													17	102					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877161	82877161	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:82877161C>T	ENST00000298281.4	+	5	1674	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	408	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAAAAACATCTTCAGGATAA	0.348000													3	19					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857500	113857500	+	Silent	SNP	C	C	A	rs142461922	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:113857500C>A	ENST00000355556.2	+	7	1217	c.984C>A	c.(982-984)ccC>ccA	p.P328P	HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000299961.5_Intron|HTR3A_ENST00000506841.2_Silent_p.P322P|HTR3A_ENST00000535865.1_Intron	NM_213621.3	NP_998786.2	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AACCCGCCCCCTCCCACCTCC	0.597000													11	66					0.010729	0.0109998	1	1	0
PAPPA	5069	broad.mit.edu	37	9	119115105	119115105	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr9:119115105G>A	ENST00000328252.3	+	16	4454	c.4085G>A	c.(4084-4086)tGc>tAc	p.C1362Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.C400Y	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1362	Sushi 3.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCGCCCGGTGCCGAGAGAAT	0.577000													5	30					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25990538	25990538	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:25990538G>A	ENST00000435504.4	-	8	982	c.689C>T	c.(688-690)tCc>tTc	p.S230F	ASXL2_ENST00000336112.4_Missense_Mutation_p.S202F|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	230	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAAGCTGGAGTTTGAGTT	0.418000													15	78					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5466612	5466612	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:5466612G>A	ENST00000296564.7	+	14	6280	c.6058G>A	c.(6058-6060)Gaa>Aaa	p.E2020K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2020										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTACTTAAAGAAGGTATGCT	0.403000													5	44					0	0	1	0	0
ATOH8	84913	broad.mit.edu	37	2	85981372	85981372	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:85981372G>T	ENST00000306279.3	+	1	356	c.60G>T	c.(58-60)ctG>ctT	p.L20L		NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	20					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						TGAAGGAGCTGAACGGCCTTA	0.687000													7	15					5.18039e-06	5.68793e-06	1	1	0
SLC36A4	120103	broad.mit.edu	37	11	92901203	92901203	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:92901203G>A	ENST00000326402.4	-	7	805	c.675C>T	c.(673-675)ttC>ttT	p.F225F	SLC36A4_ENST00000529184.1_Silent_p.F90F	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	225					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTCACGAATGAAGACCAAAA	0.348000													23	43					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697422	156697422	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:156697422A>T	ENST00000313146.6	-	1	805	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	ISG20L2_ENST00000368219.1_Missense_Mutation_p.L8Q	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	8					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCAAAATCCAGATTGAGCAG	0.468000													15	80					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45810576	45810576	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:45810576G>C	ENST00000372086.3	-	11	2052	c.1652C>G	c.(1651-1653)tCa>tGa	p.S551*	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Nonsense_Mutation_p.S522*|TESK2_ENST00000538496.1_Nonsense_Mutation_p.S468*|TESK2_ENST00000341771.6_Nonsense_Mutation_p.S522*	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	551					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GGCTGGAGTTGAGCCTGCTGG	0.597000													20	53					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529051	57529051	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:57529051C>A	ENST00000420713.1	+	4	996	c.884C>A	c.(883-885)cCc>cAc	p.P295H		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GGAGAGAAACCCTACACATGT	0.413000													14	49					4.3838e-07	4.84604e-07	1	1	0
CDH5	1003	broad.mit.edu	37	16	66420933	66420933	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:66420933G>A	ENST00000341529.3	+	3	580	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CDH5_ENST00000563425.2_Silent_p.V144V	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TTCATGACGTGAACGACAACT	0.537000													17	15					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097343	99097343	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:99097343C>G	ENST00000337673.6	-	1	577	c.374G>C	c.(373-375)cGa>cCa	p.R125P	ZNF394_ENST00000426306.2_Missense_Mutation_p.R125P|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGTGCTCTCGCACCCAGGC	0.652000													18	98					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284263	152284263	+	Silent	SNP	G	G	A	rs146128865	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:152284263G>A	ENST00000368799.1	-	3	3134	c.3099C>T	c.(3097-3099)caC>caT	p.H1033H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1033	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGGATCCGTGTCTTTCTC	0.567000									Ichthyosis				336	333					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53072404	53072404	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:53072404T>C	ENST00000252244.3	-	2	786	c.728A>G	c.(727-729)gAc>gGc	p.D243G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	243	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTCAGTTGGTCCACTCTCCT	0.483000													31	120					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106555285	106555285	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:106555285A>T	ENST00000369096.4	+	7	2636	c.2402A>T	c.(2401-2403)aAg>aTg	p.K801M	PRDM1_ENST00000369091.2_Missense_Mutation_p.K765M|PRDM1_ENST00000369089.3_Missense_Mutation_p.K667M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	801					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCTCATGAAGTTGCCTCCC	0.443000			"""D, N, Mis, F, S"""		DLBCL								13	65					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12381920	12381920	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:12381920C>A	ENST00000358136.3	+	33	7733	c.7603C>A	c.(7603-7605)Ccc>Acc	p.P2535T	VPS13D_ENST00000356315.4_Missense_Mutation_p.P2535T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2535					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)		AATTGTGGATCCCGTACAAAT	0.398000													13	101					4.36969e-10	5.00053e-10	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039257	11039257	+	RNA	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr21:11039257C>T	ENST00000470054.1	-	0	946									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTCTAACAACTGCAGTTGCT	0.403000													8	337					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155191121	155191121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:155191121G>A	ENST00000357232.4	-	19	5142	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTCCTGAATTGAGTCA	0.338000													19	74					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303845	107303845	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:107303845C>T	ENST00000265715.3	+	3	493	c.269C>T	c.(268-270)tCg>tTg	p.S90L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	90			S -> L (in DFNB4).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.S90L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACGTCATTTCGGGAGTTAGT	0.507000									Pendred syndrome				14	94					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029731	41029731	+	Silent	SNP	A	A	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:41029731A>T	ENST00000324545.8	+	20	3519	c.2886A>T	c.(2884-2886)acA>acT	p.T962T	USP9X_ENST00000378308.2_Silent_p.T962T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCTTATTACAGCCAAACTTA	0.343000													18	16					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12017946	12017946	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:12017946C>T	ENST00000196061.4	+	8	816	c.789C>T	c.(787-789)ttC>ttT	p.F263F	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.F310F	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	263					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTGGACCTTCGAAACAGGCT	0.642000													24	120					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958130	12958130	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:12958130C>T	ENST00000276297.4	-	9	2125	c.1716G>A	c.(1714-1716)ccG>ccA	p.P572P	DLC1_ENST00000520226.1_Silent_p.P61P|DLC1_ENST00000358919.2_Silent_p.P135P|DLC1_ENST00000512044.2_Silent_p.P169P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	572					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.P572P(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGCCGTCCTTCGGGTGGGAGT	0.632000													16	43					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856053	27856053	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:27856053C>G	ENST00000396319.2	+	14	1938	c.1850C>G	c.(1849-1851)tCa>tGa	p.S617*	TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.S641*|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron|TAX1BP1_ENST00000433216.2_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	617					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAAACATGCTCAGAGCAAAAT	0.358000													18	108					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75094382	75094382	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:75094382C>G	ENST00000220003.9	+	12	1857	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	CSK_ENST00000567571.1_Silent_p.L376L|CSK_ENST00000309470.9_Silent_p.L376L|CSK_ENST00000439220.2_Silent_p.L376L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	376	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAATCCTTCTCTGGGAAATCT	0.547000													22	112					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642557	90642557	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:90642557A>C	ENST00000257749.4	-	9	2803	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	BACH2_ENST00000343122.3_Missense_Mutation_p.M699R|BACH2_ENST00000537989.1_Missense_Mutation_p.M699R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	699						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAGTTCCCCCATGCATGCTTT	0.507000													11	32					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636721	42636721	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:42636721C>T	ENST00000315323.3	+	1	1797	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	555					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACACTCGCCTCACCAACAGCC	0.647000													10	4					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950945	235950945	+	Missense_Mutation	SNP	G	G	T	rs35521640	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:235950945G>T	ENST00000409212.1	+	4	2039	c.1532G>T	c.(1531-1533)cGc>cTc	p.R511L	SH3BP4_ENST00000344528.4_Missense_Mutation_p.R511L|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R511L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	511					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GAGGTCACACGCCAGGCACCC	0.577000													14	22					6.72482e-11	7.72285e-11	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13923437	13923437	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:13923437G>A	ENST00000265104.4	-	4	494	c.390C>T	c.(388-390)ttC>ttT	p.F130F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	130	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTCCTGATGAAGAACACAC	0.453000									Kartagener syndrome				32	224					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407436	38407436	+	Missense_Mutation	SNP	G	G	A	rs75640170		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:38407436G>A	ENST00000361085.5	+	7	1702	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G453S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CTACTACTCCGGTTTCACAGA	0.408000													15	24					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352131	124352131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:124352131C>T	ENST00000409039.3	+	41	6956	c.6931C>T	c.(6931-6933)Cag>Tag	p.Q2311*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2311					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATAGTTCCTCAGACAGACCT	0.403000													15	28					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919574	26919574	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:26919574C>G	ENST00000321765.5	-	3	1020	c.688G>C	c.(688-690)Gag>Cag	p.E230Q		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	230					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ACTAAGTCCTCACGCACAGCC	0.493000													28	81					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163813	38163813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:38163813G>A	ENST00000346219.3	+	36	5075	c.5054G>A	c.(5053-5055)tGg>tAg	p.W1685*	DLEC1_ENST00000308059.6_Silent_p.V1726V|DLEC1_ENST00000452631.2_Silent_p.V1729V	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGATGGTGGTGGAAGGTGTGC	0.637000													13	110					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142522890	142522890	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:142522890G>T	ENST00000273482.6	+	10	2118	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	TRPC1_ENST00000476941.1_Missense_Mutation_p.R610I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	610					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTTGTCACAAGATTTAGCTAT	0.418000													13	49					9.31168e-06	1.00541e-05	1	1	0
C12orf50	160419	broad.mit.edu	37	12	88379792	88379792	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:88379792G>A	ENST00000298699.2	-	11	1141	c.961C>T	c.(961-963)Cac>Tac	p.H321Y	C12orf50_ENST00000550553.1_Missense_Mutation_p.H282Y	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	321										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TTATTGCGGTGATAACTCATT	0.453000													29	75					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508787	49508787	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:49508787C>A	ENST00000396029.3	-	5	3031	c.2464G>T	c.(2464-2466)Gtg>Ttg	p.V822L	ADNP_ENST00000371602.4_Missense_Mutation_p.V822L|ADNP_ENST00000396032.3_Missense_Mutation_p.V822L|ADNP_ENST00000349014.3_Missense_Mutation_p.V822L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	822						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCCAGCAACACGCCAGGCTTG	0.403000													15	90					0.0202918	0.0207385	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145439043	145439043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:145439043C>T	ENST00000369317.4	+	1	575	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	81					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGGAAGACCAGCCAACAGG	0.478000													5	23					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163099441	163099441	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:163099441C>T	ENST00000188790.4	-	2	275	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	FAP_ENST00000443424.1_Missense_Mutation_p.C23Y	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	23					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAAGACAATGCACATCACCAA	0.403000													7	32					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148497603	148497603	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:148497603G>A	ENST00000325222.4	+	22	2539	c.2260G>A	c.(2260-2262)Gac>Aac	p.D754N	CUL1_ENST00000602748.1_Missense_Mutation_p.D754N|CUL1_ENST00000409469.1_Missense_Mutation_p.D754N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	754					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAAATGCATTGACATTCTAAT	0.413000													23	52					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124236944	124236944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:124236944G>T	ENST00000330342.3	+	17	2418	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	724					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AATGGCGTGTGAAGAGGTAAA	0.338000													14	56					9.31168e-06	1.00541e-05	1	1	0
NXNL1	115861	broad.mit.edu	37	19	17571580	17571580	+	Silent	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:17571580C>A	ENST00000301944.2	-	1	183	c.99G>T	c.(97-99)cgG>cgT	p.R33R	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	33	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCAGCACCAGCCGGTTCTCCA	0.597000													15	65					9.7654e-05	0.00010338	1	1	0
PALLD	23022	broad.mit.edu	37	4	169837074	169837074	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:169837074G>C	ENST00000335742.7	+	17	3578	c.2221G>C	c.(2221-2223)Gac>Cac	p.D741H	PALLD_ENST00000512127.1_Missense_Mutation_p.D517H|PALLD_ENST00000505667.1_Missense_Mutation_p.D916H|PALLD_ENST00000507735.1_Missense_Mutation_p.D412H|PALLD_ENST00000261509.6_Missense_Mutation_p.D899H|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1123	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGACAGTGGAGACGAAAATGA	0.418000									Pancreatic Cancer, Familial Clustering of				8	30					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49374340	49374340	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:49374340C>G	ENST00000225298.7	+	13	1718	c.1661C>G	c.(1660-1662)tCa>tGa	p.S554*		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	554				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CACCATTACTCAGACTTCTAA	0.373000													8	74					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220313015	220313015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:220313015G>T	ENST00000312358.7	+	4	1267	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Nonsense_Mutation_p.E275*	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	379					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCACTGAGCGAGGCCTCAGG	0.697000													4	6					0.00909568	0.00935473	1	1	0
FAM101A	144347	broad.mit.edu	37	12	124798909	124798909	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:124798909C>G	ENST00000324038.3	+	3	489	c.246C>G	c.(244-246)cgC>cgG	p.R82R	FAM101A_ENST00000338359.4_Silent_p.R82R|FAM101A_ENST00000389727.3_Silent_p.R163R|FAM101A_ENST00000546355.1_Silent_p.R82R	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	163										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCCCTGCGCTTCCGCAGCA	0.687000													20	104					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920679	51920679	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:51920679C>A	ENST00000353836.5	-	2	299	c.78G>T	c.(76-78)caG>caT	p.Q26H	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q26H|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q26H|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.Q26H	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	26	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCACTGACTCCTGCACTCGTA	0.607000													8	59					0.0381472	0.0387433	1	1	0
LHFPL2	10184	broad.mit.edu	37	5	77806008	77806008	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:77806008G>C	ENST00000380345.2	-	4	704	c.29C>G	c.(28-30)tCg>tGg	p.S10W	LHFPL2_ENST00000515007.2_Missense_Mutation_p.S10W	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	10						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CCAGAGCATCGAGCGACAGGT	0.537000													3	19					0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114203355	114203355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:114203355G>A	ENST00000369405.3	-	3	700	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ZDHHC6_ENST00000369404.3_Intron	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	93						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGGTATCCTGAGAAATTTCC	0.398000													8	60					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926871	1926871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:1926871C>A	ENST00000399161.2	-	10	1417	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E224*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	224					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGTTCATTTCTGACTCAGTC	0.443000													4	63					0.150653	0.151586	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42853768	42853768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:42853768C>T	ENST00000334370.4	+	13	2850	c.2215C>T	c.(2215-2217)Cag>Tag	p.Q739*	MEGF8_ENST00000251268.6_Nonsense_Mutation_p.Q806*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	806						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTAGAGATCCAGGGCCAGCT	0.652000													6	63					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916865	149916865	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:149916865T>G	ENST00000369135.4	-	12	1717	c.1423A>C	c.(1423-1425)Agt>Cgt	p.S475R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGGTGGAACTGCTGCCAACT	0.607000													39	52					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16070673	16070673	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:16070673G>C	ENST00000375782.1	+	4	493	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	119	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCCGCCGAGAGGCTGCA	0.697000													3	7					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056216	26056216	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:26056216C>T	ENST00000343677.2	-	1	483	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	147					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P147P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCTCTTCTTCGGAGTTGCGC	0.572000													58	124					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121473458	121473458	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:121473458C>A	ENST00000305949.1	+	9	985	c.940C>A	c.(940-942)Cta>Ata	p.L314I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	314					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTATCAGATCTACCCTCCTG	0.299000													20	47					1.64113e-05	1.76029e-05	1	1	0
RORC	6097	broad.mit.edu	37	1	151787566	151787566	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:151787566C>T	ENST00000356728.6	-	4	725	c.571G>A	c.(571-573)Gag>Aag	p.E191K	RORC_ENST00000318247.6_Missense_Mutation_p.E212K|RORC_ENST00000392697.3_Missense_Mutation_p.E266K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	212	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGCCCTCAGCCTTGCCC	0.592000													5	25					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149461958	149461958	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:149461958A>G	ENST00000302017.3	-	5	2046	c.1633T>C	c.(1633-1635)Tgc>Cgc	p.C545R	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACTGCGGGCAGGAGAAGGGG	0.706000													13	42					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79258946	79258946	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:79258946C>T	ENST00000264895.6	+	20	2837	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	FRAS1_ENST00000325942.6_Silent_p.F799F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	799					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGAGCAGTTCCTCAACCTCG	0.562000													11	37					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219706	79219706	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:79219706C>A	ENST00000374759.3	-	16	3393	c.3010G>T	c.(3010-3012)Ggg>Tgg	p.G1004W		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1004					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGTCCTCCCCGCCTCTCGGC	0.697000													18	24					3.32936e-07	3.70562e-07	1	1	0
MGAT5	4249	broad.mit.edu	37	2	135012026	135012026	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:135012026C>G	ENST00000409645.1	+	2	304	c.52C>G	c.(52-54)Ctg>Gtg	p.L18V	MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Missense_Mutation_p.L18V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	18					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)		GGGCTTTTTCCTGGTGACTTT	0.512000													8	36					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513017	61513017	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:61513017C>T	ENST00000266070.4	-	16	4616	c.4291G>A	c.(4291-4293)Gag>Aag	p.E1431K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1431K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1431					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGATGGTCTCATCCTCGGGG	0.612000													16	130					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3425766	3425766	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:3425766G>A	ENST00000356575.4	-	12	1627	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	MEGF6_ENST00000294599.4_Silent_p.F362F	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	467						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGGCCGCACGAAAGGCAGCT	0.687000													3	7					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480421	59480421	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:59480421C>G	ENST00000307552.2	-	1	916	c.898G>C	c.(898-900)Gat>Cat	p.D300H		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CTTAGGGCATCTTTCAGTTCC	0.408000													18	119					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18237514	18237514	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:18237514G>A	ENST00000229002.2	-	5	478	c.272C>T	c.(271-273)tCa>tTa	p.S91L	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Missense_Mutation_p.S90L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	91	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAAAGCAAATGAAGACCTATC	0.388000													15	66					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564385	57564385	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:57564385G>A	ENST00000524630.1	+	6	1390	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CTNND1_ENST00000534579.1_Missense_Mutation_p.D239N|CTNND1_ENST00000532245.1_Missense_Mutation_p.D192N|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.D293N|CTNND1_ENST00000358694.6_Missense_Mutation_p.D293N|CTNND1_ENST00000530748.1_Missense_Mutation_p.D239N|CTNND1_ENST00000532844.1_Missense_Mutation_p.D239N|CTNND1_ENST00000528232.1_Missense_Mutation_p.D192N|CTNND1_ENST00000528621.1_Missense_Mutation_p.D239N|CTNND1_ENST00000532463.1_Missense_Mutation_p.D192N|CTNND1_ENST00000529526.1_Missense_Mutation_p.D239N|CTNND1_ENST00000361332.4_Missense_Mutation_p.D293N|CTNND1_ENST00000426142.2_Missense_Mutation_p.D192N|CTNND1_ENST00000360682.6_Missense_Mutation_p.D293N|CTNND1_ENST00000530094.1_Missense_Mutation_p.D192N|CTNND1_ENST00000428599.2_Missense_Mutation_p.D293N|CTNND1_ENST00000529873.1_Missense_Mutation_p.D239N|CTNND1_ENST00000415361.2_Missense_Mutation_p.D192N|CTNND1_ENST00000526938.1_Missense_Mutation_p.D293N|CTNND1_ENST00000361391.6_Missense_Mutation_p.D293N|CTNND1_ENST00000529919.1_Missense_Mutation_p.D293N|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532787.1_Missense_Mutation_p.D192N|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.D293N|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000399050.4_Missense_Mutation_p.D293N|CTNND1_ENST00000529986.1_Missense_Mutation_p.D192N|CTNND1_ENST00000532649.1_Missense_Mutation_p.D239N|CTNND1_ENST00000526357.1_Missense_Mutation_p.D239N			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	293					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGGCTATGATGACCTGGATTA	0.562000													17	75					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465358	51465358	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:51465358G>A	ENST00000374095.5	-	7	1223	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	366	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGGGCGGGTTGAGCTTGGGGA	0.522000													27	126					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573897	41573897	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr22:41573897C>T	ENST00000263253.7	+	31	7401	c.6182C>T	c.(6181-6183)cCc>cTc	p.P2061L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2061	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCAGGTCTCCCAGCTCTCCC	0.557000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				24	68					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249030	20249030	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr14:20249030G>T	ENST00000315957.4	+	1	630	c.549G>T	c.(547-549)caG>caT	p.Q183H		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATCACACAGGTTGTCCGGA	0.463000													28	259					5.77227e-19	6.84667e-19	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57529052	57529052	+	Silent	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:57529052C>A	ENST00000420713.1	+	4	997	c.885C>A	c.(883-885)ccC>ccA	p.P295P		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.P295P(4)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						GAGAGAAACCCTACACATGTG	0.413000													14	50					4.3838e-07	4.84604e-07	1	1	0
PIGU	128869	broad.mit.edu	37	20	33203907	33203907	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:33203907G>A	ENST00000374820.2	-	6	526	c.506C>T	c.(505-507)gCg>gTg	p.A169V	PIGU_ENST00000452740.2_Missense_Mutation_p.A189V|PIGU_ENST00000480175.1_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	189					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CTGGTATGTCGCTAAGGCAAG	0.458000													33	66					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70404494	70404494	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:70404494G>C	ENST00000373644.4	+	4	2217	c.2008G>C	c.(2008-2010)Gaa>Caa	p.E670Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	670	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCAAGTCAGAATCCATGGA	0.358000													21	27					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392244	60392244	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:60392244C>T	ENST00000371204.3	-	1	218	c.175G>A	c.(175-177)Gtg>Atg	p.V59M		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	59					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TCGAAGTCCACAAGGAAGAAG	0.592000													34	37					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349628	100349628	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:100349628C>G	ENST00000372930.4	+	2	470	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	63						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CAATTCCATTCTCCTCCGAAA	0.478000													28	63					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225674	26225674	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:26225674G>A	ENST00000360408.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGAGGCCTGCGAGGCCTACTT	0.592000											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	44					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18057507	18057507	+	Splice_Site	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:18057507A>G	ENST00000250018.2	-	2	862	c.300T>C	c.(298-300)gaT>gaC	p.D100D	TPH1_ENST00000341556.2_Splice_Site_p.D100D	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	100				D -> E (in Ref. 2; AAA67050).	aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAACTTACCATCTTCCTTCA	0.308000													3	49					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947885	237947885	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:237947885C>G	ENST00000366574.2	+	90	13190	c.12873C>G	c.(12871-12873)ttC>ttG	p.F4291L	RYR2_ENST00000360064.6_Missense_Mutation_p.F4297L|RYR2_ENST00000542537.1_Missense_Mutation_p.F4275L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4291					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)			GGAGTATTTTCATGACCCTCT	0.478000													6	26					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816058	43816058	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr21:43816058C>A	ENST00000380399.1	-	1	897	c.194G>T	c.(193-195)gGg>gTg	p.G65V	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CACATAATTCCCGAGTCCCAA	0.473000													4	34					0.000602214	0.000627307	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167263125	167263125	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:167263125G>A	ENST00000409855.1	-	25	4140	c.4014C>T	c.(4012-4014)taC>taT	p.Y1338Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1338					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAGGCACAAGGTAGGATCCTA	0.418000													78	45					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27509995	27509995	+	Silent	SNP	G	G	A	rs139483990		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:27509995G>A	ENST00000356183.4	-	13	2136	c.2121C>T	c.(2119-2121)atC>atT	p.I707I	GTF3C1_ENST00000561623.1_Silent_p.I707I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	707						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGACCTGCTCGATGGCACTTC	0.587000													27	120					0	0	1	0	0
RER1	11079	broad.mit.edu	37	1	2328587	2328587	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:2328587C>T	ENST00000605895.1	+	3	247	c.114C>T	c.(112-114)ccC>ccT	p.P38P	RER1_ENST00000378518.1_Silent_p.P38P|RER1_ENST00000378512.1_Silent_p.P38P|RER1_ENST00000488353.1_Silent_p.P38P|RER1_ENST00000378513.3_Silent_p.P38P	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	38					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		AGTCCACACCCTACACGGCTG	0.498000													21	66					0	0	1	0	0
TEDDM1	127670	broad.mit.edu	37	1	182368922	182368922	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:182368922C>G	ENST00000367565.1	-	1	829	c.699G>C	c.(697-699)ctG>ctC	p.L233L		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	233						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TGGGCCCAGTCAGCTTCAAGC	0.493000													20	38					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942964	38942964	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:38942964C>G	ENST00000357387.3	-	37	5053	c.5023G>C	c.(5023-5025)Gaa>Caa	p.E1675Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.E1699Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1675					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGAAATAATTCTTGTATGAAC	0.338000													17	8					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45780352	45780352	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:45780352G>T	ENST00000389061.5	+	18	1760	c.1556G>T	c.(1555-1557)tGg>tTg	p.W519L	SACM1L_ENST00000418611.1_Missense_Mutation_p.W416L|SACM1L_ENST00000541314.1_Missense_Mutation_p.W458L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	519						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CCAAGGGACTGGAAATTCCTG	0.328000													11	147					5.50884e-06	6.00796e-06	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20249031	20249031	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr14:20249031G>T	ENST00000315957.4	+	1	631	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCACACAGGTTGTCCGGAT	0.468000													28	253					1.88708e-17	2.21409e-17	1	1	0
OASL	8638	broad.mit.edu	37	12	121458862	121458862	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:121458862C>G	ENST00000257570.5	-	6	1318		c.e6-1		OASL_ENST00000339275.5_Splice_Site	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like						interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCGTGCCCTCTGGAAGGGAG	0.463000													4	42					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058681	1058681	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:1058681G>A	ENST00000263094.6	+	38	5445	c.5214G>A	c.(5212-5214)gtG>gtA	p.V1738V	ABCA7_ENST00000433129.1_Silent_p.V1738V|ABCA7_ENST00000435683.2_Silent_p.V1600V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1738					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCATGGTGATACAGGGGC	0.582000													6	47					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86239960	86239960	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:86239960C>T	ENST00000314673.3	-	19	2020	c.1844G>A	c.(1843-1845)aGa>aAa	p.R615K	SNX14_ENST00000505648.1_Missense_Mutation_p.R563K|SNX14_ENST00000346348.3_Missense_Mutation_p.R562K|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.R606K	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	615	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGATATCTTCTATAGACAGA	0.303000													9	24					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33272324	33272324	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:33272324G>C	ENST00000434618.2	-	5	1305	c.960C>G	c.(958-960)ttC>ttG	p.F320L	TAPBP_ENST00000456592.2_Missense_Mutation_p.F320L|TAPBP_ENST00000475304.1_Missense_Mutation_p.F338L|TAPBP_ENST00000489157.1_Missense_Mutation_p.F233L|TAPBP_ENST00000426633.2_Missense_Mutation_p.F320L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	320	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGAAGGGTAGAAGTGGGACA	0.687000													14	31					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55129982	55129982	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:55129982C>T	ENST00000257290.5	+	4	847	c.516C>T	c.(514-516)taC>taT	p.Y172Y	PDGFRA_ENST00000508170.1_Silent_p.Y172Y|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	172	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTGCCTCCTACGACAGCAGAC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			12	78					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94486866	94486866	+	Missense_Mutation	SNP	C	C	T	rs61750159		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:94486866C>T	ENST00000370225.3	-	35	5034	c.4948G>A	c.(4948-4950)Gag>Aag	p.E1650K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1650					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCATACTCCTCGGGGCTCCTG	0.557000													21	104					0	0	1	0	0
MRPS18C	51023	broad.mit.edu	37	4	84377256	84377256	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:84377256G>T	ENST00000295491.4	+	1	139	c.26G>T	c.(25-27)gGt>gTt	p.G9V	MRPS18C_ENST00000507349.1_Missense_Mutation_p.G9V|MRPS18C_ENST00000507019.1_Missense_Mutation_p.G9V	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	9					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GCTGTTTGCGGTGGTCTAGGG	0.552000													18	100					4.96729e-08	5.54766e-08	1	1	0
CBR3-AS1	100506428	broad.mit.edu	37	21	37504963	37504963	+	RNA	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr21:37504963C>A	ENST00000413862.1	-	0	663				CBR3-AS1_ENST00000453159.1_RNA	NR_038892.1																						GGCGTCTGTTCGAAGGCATTG	0.552000													3	9					6.4e-05	6.84211e-05	1	1	0
FAM160B1	57700	broad.mit.edu	37	10	116620626	116620626	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:116620626C>G	ENST00000369248.4	+	15	2401	c.2066C>G	c.(2065-2067)tCt>tGt	p.S689C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.S689C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	689										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GGCTGTAGATCTCTCTTCTCT	0.398000													49	61					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801950	67801950	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr13:67801950T>G	ENST00000544246.1	-	2	1314	c.623A>C	c.(622-624)cAa>cCa	p.Q208P	PCDH9_ENST00000377861.3_Missense_Mutation_p.Q208P|PCDH9_ENST00000377865.2_Missense_Mutation_p.Q208P|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q208P|PCDH9_ENST00000456367.1_Missense_Mutation_p.Q208P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	208	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCCAAGTTTTGCTGAACAAT	0.438000													53	90					0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35381213	35381213	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:35381213G>A	ENST00000426836.1	-	11	1421	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	DSN1_ENST00000373745.3_Missense_Mutation_p.S350F|DSN1_ENST00000373734.4_Missense_Mutation_p.S243F|DSN1_ENST00000373740.3_Missense_Mutation_p.S278F|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.S350F|DSN1_ENST00000448110.2_Missense_Mutation_p.S334F	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	350					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCCAGATCCAGATCCATGTAT	0.498000													34	71					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157041071	157041071	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:157041071G>C	ENST00000348165.5	+	19	2851	c.2491G>C	c.(2491-2493)Gag>Cag	p.E831Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	831	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGCTCTCTATGAGAACATGCT	0.468000													14	76					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236938	42236938	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:42236938G>A	ENST00000541110.1	-	5	959	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	TRERF1_ENST00000372922.4_Missense_Mutation_p.R131W|TRERF1_ENST00000340840.2_Missense_Mutation_p.R131W|TRERF1_ENST00000354325.2_Missense_Mutation_p.R131W|TRERF1_ENST00000372917.4_Missense_Mutation_p.R131W			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	131					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCTGGGTCCGGATCTCGCTG	0.552000													4	277					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	91					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16743410	16743410	+	Splice_Site	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:16743410C>G	ENST00000381323.3	-	6	519		c.e6-1		FAM49A_ENST00000355549.2_Splice_Site|FAM49A_ENST00000406434.1_Splice_Site	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A							intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			AGAGCTTTTTCTGAAAATCAA	0.473000													6	30					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421678	62421678	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:62421678C>G	ENST00000245663.4	-	2	583	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ZBTB46_ENST00000302995.2_Missense_Mutation_p.E145Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.E145Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGCCGATCTCGAACTCCGCA	0.632000													8	19					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475520	120475520	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr9:120475520C>A	ENST00000355622.6	+	3	1215	c.1114C>A	c.(1114-1116)Cta>Ata	p.L372I	TLR4_ENST00000394487.4_Missense_Mutation_p.L332I|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	372					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGAAGTTGATCTACCAAGCCT	0.378000													28	69					1.12875e-08	1.27377e-08	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4718327	4718327	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:4718327G>A	ENST00000302640.8	+	23	3114	c.2764G>A	c.(2764-2766)Gtg>Atg	p.V922M	ITPR1_ENST00000357086.4_Missense_Mutation_p.V928M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V913M|ITPR1_ENST00000443694.2_Missense_Mutation_p.V922M|ITPR1_ENST00000354582.6_Missense_Mutation_p.V937M|ITPR1_ENST00000423119.2_Missense_Mutation_p.V928M	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	937					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TATTCATGGCGTGGGAGAGCT	0.562000													5	29					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63880539	63880539	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:63880539G>A	ENST00000268049.7	+	13	1390	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	USP3_ENST00000559711.1_Missense_Mutation_p.D289N|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.D129N|USP3_ENST00000540797.1_Missense_Mutation_p.D334N|USP3_ENST00000380324.3_Missense_Mutation_p.D378N|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000558285.1_Missense_Mutation_p.D361N			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	378					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGAACTTGATGAGACAGA	0.338000													12	56					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112724658	112724658	+	Missense_Mutation	SNP	G	G	A	rs143719239	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:112724658G>A	ENST00000314400.5	-	9	1620	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	C3orf17_ENST00000393857.2_Missense_Mutation_p.R341W|C3orf17_ENST00000383675.2_Missense_Mutation_p.R407W	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	477						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GCACTCTTCCGAGTCCCTTGA	0.433000													12	36					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329928	88329928	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr13:88329928A>C	ENST00000325089.6	+	2	2504	c.2285A>C	c.(2284-2286)aAc>aCc	p.N762T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N521T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	762						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGTGCAAAAACCCCATCTAC	0.622000													11	109					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094654	143094654	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:143094654C>T	ENST00000367603.2	-	5	1964	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E408K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E408K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATTTGCTGCTCAGCACTTTCT	0.438000													20	176					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90921817	90921817	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:90921817G>A	ENST00000451899.2	+	2	327	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	OSGIN2_ENST00000297438.2_5'UTR|OSGIN2_ENST00000520659.1_Missense_Mutation_p.E23K	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	0					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CACTGAAACTGAAGGAGAGAT	0.328000													38	27					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43141825	43141825	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:43141825G>A	ENST00000265354.4	+	2	1112	c.754G>A	c.(754-756)Gag>Aag	p.E252K	SRF_ENST00000457278.2_Missense_Mutation_p.E48K	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	252	Asp/Glu-rich (acidic).				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGTGTCGGAGTCTGACAG	0.582000													10	18					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53675719	53675719	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:53675719G>C	ENST00000371486.3	+	4	888	c.373G>C	c.(373-375)Gac>Cac	p.D125H		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	125					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	ATCTGCTCGAGACTCCGTTGT	0.358000													46	83					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957572	121957572	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:121957572G>A	ENST00000379692.4	-	4	2080	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	518	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTGACTGTGGAAATATTTAC	0.408000													20	66					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915088	39915088	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:39915088G>C	ENST00000425673.1	+	17	3553	c.3228G>C	c.(3226-3228)caG>caC	p.Q1076H	PLEKHG2_ENST00000409794.3_Missense_Mutation_p.Q1105H|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.Q1046H			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1105	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGACCTTCAGATTCCAGGTA	0.602000													31	52					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801928	67801928	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr13:67801928T>A	ENST00000544246.1	-	2	1336	c.645A>T	c.(643-645)aaA>aaT	p.K215N	PCDH9_ENST00000377861.3_Missense_Mutation_p.K215N|PCDH9_ENST00000377865.2_Missense_Mutation_p.K215N|PCDH9_ENST00000328454.5_Missense_Mutation_p.K215N|PCDH9_ENST00000456367.1_Missense_Mutation_p.K215N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	215	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CATAGGTATCTTTCTGTTCTC	0.433000													38	78					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171387	3171387	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:3171387C>T	ENST00000354488.3	-	9	914	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	286						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CACCCGGCCCCGCTGTCGGAT	0.647000													4	21					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118624517	118624517	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:118624517G>C	ENST00000354673.2	-	7	1006	c.626C>G	c.(625-627)tCa>tGa	p.S209*	IGSF11_ENST00000441144.2_Nonsense_Mutation_p.S209*|IGSF11_ENST00000393775.2_Nonsense_Mutation_p.S210*|IGSF11_ENST00000425327.2_Nonsense_Mutation_p.S209*|IGSF11_ENST00000491903.1_Nonsense_Mutation_p.S210*|IGSF11_ENST00000489689.1_Nonsense_Mutation_p.S210*	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	210	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTACAAACCTGAAGACAGGGC	0.463000													25	49					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105779643	105779643	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:105779643C>T	ENST00000369755.3	+	16	3829	c.3284C>T	c.(3283-3285)aCa>aTa	p.T1095I	SLK_ENST00000335753.4_Missense_Mutation_p.T1064I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1095					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTAACTCAACAGCCACACCA	0.383000													18	74					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436751	248436751	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:248436751C>T	ENST00000318021.2	-	1	387	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122A(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAGACAGCCGCATAGCGGT	0.612000													11	41					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44974655	44974655	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:44974655T>C	ENST00000296127.3	-	5	838	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.M223V|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.M189V	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	189						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AATCCCACCATGATGAGGGCG	0.517000													18	71					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142780104	142780104	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:142780104C>G	ENST00000343796.2	-	2	1294	c.301G>C	c.(301-303)Gac>Cac	p.D101H	NR3C1_ENST00000503201.1_Missense_Mutation_p.D101H|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101H|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101H|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101H|NR3C1_ENST00000394466.2_Missense_Mutation_p.D101H|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101H|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101H	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	101	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AATCCCAGGTCATTTCCCATC	0.483000													51	55					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61551791	61551791	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:61551791G>C	ENST00000278836.5	+	25	3330	c.3234G>C	c.(3232-3234)agG>agC	p.R1078S	MYRF_ENST00000265460.5_Missense_Mutation_p.R1038S|MYRF_ENST00000389602.4_Missense_Mutation_p.R464S|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCAGCCTGAGGTCAAAGGAGG	0.622000													5	34					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19556878	19556878	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:19556878G>A	ENST00000328405.2	+	14	2766	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	834						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTGGCTCTGAACGAATCAG	0.358000													32	31					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352142	124352142	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:124352142C>T	ENST00000409039.3	+	41	6967	c.6942C>T	c.(6940-6942)ctC>ctT	p.L2314L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2314					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGACAGACCTCAATATGGTAA	0.423000													14	26					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34145206	34145206	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:34145206C>G	ENST00000348547.2	+	13	1160	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	ERGIC3_ENST00000447986.1_Silent_p.L376L|ERGIC3_ENST00000357394.4_Silent_p.L366L|ERGIC3_ENST00000279052.6_Silent_p.L366L	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	361					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGCTGGACTCATCGATTCGC	0.552000													20	82					0	0	1	0	0
PLAUR	5329	broad.mit.edu	37	19	44153142	44153142	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:44153142C>T	ENST00000221264.4	-	6	1199	c.773G>A	c.(772-774)cGc>cAc	p.R258H	PLAUR_ENST00000339082.3_Intron|PLAUR_ENST00000601723.1_Missense_Mutation_p.R254H|PLAUR_ENST00000340093.3_Missense_Mutation_p.R303H	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	303	UPAR/Ly6 3.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGCCCCACTGCGGTACTGGAC	0.577000													9	24					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167595347	167595347	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:167595347G>A	ENST00000366832.2	+	8	1136	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	335										endometrium(1)|kidney(2)|lung(3)	6						CCGGTTTCCCGAGTGAATTTC	0.537000													15	40					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681170	44681170	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:44681170A>C	ENST00000590089.1	+	7	2122	c.1755A>C	c.(1753-1755)aaA>aaC	p.K585N	ZNF226_ENST00000337433.5_Missense_Mutation_p.K585N|ZNF226_ENST00000454662.2_Missense_Mutation_p.K585N|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CGGGTGAGAAACCATACAAAT	0.443000													4	141					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920678	51920678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:51920678C>A	ENST00000353836.5	-	2	300	c.79G>T	c.(79-81)Gag>Tag	p.E27*	SIGLEC10_ENST00000436984.2_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000356298.5_Nonsense_Mutation_p.E27*|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000442846.3_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000339313.5_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000432469.2_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000439889.2_Nonsense_Mutation_p.E27*|SIGLEC10_ENST00000525998.1_Nonsense_Mutation_p.E27*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	27	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		ATCACTGACTCCTGCACTCGT	0.607000													8	60					0.0381472	0.0387433	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77324327	77324327	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:77324327C>G	ENST00000388914.3	-	2	186	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.D12H	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	12										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATAAAAGATCTTCATTATTT	0.313000													10	33					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816059	43816059	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr21:43816059C>G	ENST00000380399.1	-	1	896	c.193G>C	c.(193-195)Ggg>Cgg	p.G65R	TMPRSS3_ENST00000291532.3_5'UTR|TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000433957.2_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATAATTCCCGAGTCCCAAA	0.478000													4	35					0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24123201	24123201	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr22:24123201G>T	ENST00000215743.3	+	5	824	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	258					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				ACACCTATATGGCCAGCCCTG	0.622000													7	101					0.00198382	0.00205988	1	1	0
ZNF646	9726	broad.mit.edu	37	16	31089289	31089289	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:31089289G>T	ENST00000394979.2	+	1	2067	c.1644G>T	c.(1642-1644)ccG>ccT	p.P548P	ZNF646_ENST00000300850.5_Silent_p.P548P			O15015	ZN646_HUMAN	zinc finger protein 646	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGGCAGCCCCGCACACAGATC	0.607000													4	25					0.00909568	0.00935473	1	1	0
CNIH4	29097	broad.mit.edu	37	1	224548228	224548228	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:224548228A>G	ENST00000465271.1	+	2	176	c.101A>G	c.(100-102)tAc>tGc	p.Y34C	CNIH4_ENST00000366856.3_Missense_Mutation_p.Y34C|CNIH4_ENST00000366858.3_Missense_Mutation_p.Y34C|CNIH4_ENST00000468318.1_Intron|CNIH4_ENST00000366857.5_Missense_Mutation_p.Y34C	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	34					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAATGTGATTACATTAATGCT	0.279000													33	104					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724658	43724658	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:43724658G>A	ENST00000263801.3	-	17	3646	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1137W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1137W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1137W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1132					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTAGTACTCCGTCCTTCTTTC	0.478000								Other conserved DNA damage response genes					21	61					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447877	49447877	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:49447877G>C	ENST00000301067.7	-	5	556	c.557C>G	c.(556-558)tCa>tGa	p.S186*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACATCCAGGTGAGCGGCAAGG	0.597000													9	25					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													6	83					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933147	83933147	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:83933147C>T	ENST00000345382.2	-	4	941	c.856G>A	c.(856-858)Gac>Aac	p.D286N	BNC1_ENST00000569704.1_Missense_Mutation_p.D279N|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	286					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAGCTGCTGTCAGGGAAGGGC	0.473000													22	62					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	601682	601682	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:601682G>C	ENST00000264555.5	+	10	1261	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	PHRF1_ENST00000533464.1_Missense_Mutation_p.R374T|PHRF1_ENST00000413872.2_Missense_Mutation_p.R377T|PHRF1_ENST00000416188.2_Missense_Mutation_p.R378T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	378	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTGAAGAAGAGAAGAGGGAAG	0.552000													8	4					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55068496	55068496	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:55068496G>A	ENST00000262288.3	+	6	638	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	195					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CAACTTTGCGGGGGTTGCCTT	0.527000													125	104					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590497	101590497	+	Silent	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:101590497G>C	ENST00000370449.4	+	21	2885	c.2772G>C	c.(2770-2772)ctG>ctC	p.L924L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	924						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCAGGCATCTGAAGTCCCTGA	0.453000													19	20					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35866820	35866820	+	Silent	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:35866820G>A	ENST00000373622.5	+	16	1999	c.1803G>A	c.(1801-1803)caG>caA	p.Q601Q	RPN2_ENST00000237530.6_Intron|RPN2_ENST00000470352.1_Intron	NM_001135771.1	NP_001129243.1	P04844	RPN2_HUMAN	ribophorin II	0					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGCAGAGCAGAGCAGTAGAT	0.507000													4	6					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95070330	95070330	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:95070330C>A	ENST00000371501.4	-	52	6082	c.5960G>T	c.(5959-5961)cGg>cTg	p.R1987L	MYOF_ENST00000371502.4_Missense_Mutation_p.R1977L|MYOF_ENST00000359263.4_Missense_Mutation_p.R1987L|MYOF_ENST00000358334.5_Missense_Mutation_p.R1974L			Q9NZM1	MYOF_HUMAN	myoferlin	1987					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGTTCGTCCCGCCCCTTCCC	0.552000													16	38					9.16793e-09	1.03818e-08	1	1	0
DLGAP1	9229	broad.mit.edu	37	18	3567512	3567512	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr18:3567512C>T	ENST00000315677.3	-	9	2628	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E	DLGAP1_ENST00000581527.1_Missense_Mutation_p.G678E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.G376E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.G362E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.G384E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.G368E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.G678E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.G384E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.G386E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.G376E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.G678E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.G394E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	678	Interaction with DYL2 (By similarity).				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TACTTGCACTCCCACGGACTG	0.423000													15	81					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123339145	123339145	+	Silent	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:123339145G>C	ENST00000360772.3	-	32	5502	c.5124C>G	c.(5122-5124)tcC>tcG	p.S1708S	MYLK_ENST00000578202.1_5'UTR|MYLK_ENST00000346322.5_Silent_p.S1690S|MYLK_ENST00000354792.5_Silent_p.S559S|MYLK_ENST00000418370.2_5'UTR|MYLK_ENST00000475616.1_Silent_p.S1759S|MYLK_ENST00000359169.1_Silent_p.S1708S|MYLK_ENST00000583087.1_5'UTR|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Silent_p.S1759S			Q15746	MYLK_HUMAN	myosin light chain kinase	1759	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGCCATAGAGGACAGTCTTC	0.522000													36	173					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144336768	144336768	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:144336768G>A	ENST00000262995.4	+	2	638	c.211G>A	c.(211-213)Gga>Aga	p.G71R	GAB1_ENST00000262994.4_Missense_Mutation_p.G71R|GAB1_ENST00000505913.1_5'UTR	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	71	PH.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGTAGATGCTGGATTGACATT	0.333000													9	23					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030882	49030882	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:49030882C>G	ENST00000380950.2	-	27	4884	c.4697G>C	c.(4696-4698)gGg>gCg	p.G1566A	CEP152_ENST00000399334.3_Missense_Mutation_p.G1510A	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1510					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACTAAGGTCCCCTCCATCTTT	0.433000													13	51					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68113751	68113751	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:68113751C>G	ENST00000262215.3	-	37	5607	c.5218G>C	c.(5218-5220)Gat>Cat	p.D1740H	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D1194H|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.D578H|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1740					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CGGCTCTCATCCATGTACATC	0.542000													23	43					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64637550	64637550	+	Silent	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:64637550C>G	ENST00000413366.3	+	4	392	c.366C>G	c.(364-366)ctC>ctG	p.L122L		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	122					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGTCACTGCTCTATGGACTTA	0.488000													21	136					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231404055	231404055	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:231404055C>G	ENST00000340126.4	+	25	2199	c.2168C>G	c.(2167-2169)tCc>tGc	p.S723C	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	471					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTCCAAGATCCTTTCATGAG	0.512000													10	45					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718394	2718394	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr18:2718394G>A	ENST00000320876.6	+	19	2758	c.2420G>A	c.(2419-2421)aGa>aAa	p.R807K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R807K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	807					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCAGGAAGACCACTACCA	0.299000													9	50					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308422	70308422	+	Silent	SNP	G	G	A	rs142807071	byFrequency	TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:70308422G>A	ENST00000517649.1	-	4	611	c.321C>T	c.(319-321)gcC>gcT	p.A107A	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Silent_p.A107A|NAIP_ENST00000194097.4_Silent_p.A107A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	107					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCGTGAGGCCGGCACCAAAGA	0.493000													13	38					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45219503	45219503	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:45219503C>G	ENST00000372217.1	+	6	850	c.499C>G	c.(499-501)Cag>Gag	p.Q167E	KIF2C_ENST00000372224.4_Missense_Mutation_p.Q221E|KIF2C_ENST00000372222.3_Missense_Mutation_p.Q108E|KIF2C_ENST00000372218.4_Missense_Mutation_p.Q180E|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	221	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAAGAGAGCTCAGGTACCTTT	0.463000													15	25					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111894031	111894031	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:111894031G>T	ENST00000377617.3	-	23	3707	c.3546C>A	c.(3544-3546)ctC>ctA	p.L1182L	ATXN2_ENST00000535949.1_Silent_p.L875L|ATXN2_ENST00000608853.1_Silent_p.L1022L|ATXN2_ENST00000389153.4_Silent_p.L919L|ATXN2_ENST00000542287.2_Silent_p.L917L|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1182					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGCCAGATGGAGAGCCTGGG	0.562000													25	123					3.6726e-16	4.26284e-16	1	1	0
IMMT	10989	broad.mit.edu	37	2	86373220	86373220	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:86373220C>A	ENST00000410111.3	-	14	2021	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	IMMT_ENST00000442664.2_Missense_Mutation_p.R544I|IMMT_ENST00000409051.2_Missense_Mutation_p.R498I|IMMT_ENST00000449247.2_Missense_Mutation_p.R534I|IMMT_ENST00000254636.5_Missense_Mutation_p.R446I	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	545						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTCTGAGTCTGGCATAGGC	0.358000													6	20					8.12818e-05	8.63288e-05	1	1	0
CA5B	11238	broad.mit.edu	37	X	15790687	15790687	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:15790687G>A	ENST00000318636.3	+	4	545	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CA5B_ENST00000454127.2_Missense_Mutation_p.D137N	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	137					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					GGGGGCCATCGATGCCTGGGG	0.502000													31	76					0	0	1	0	0
IGFBP7	3490	broad.mit.edu	37	4	57898690	57898690	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:57898690C>G	ENST00000295666.4	-	4	764	c.731G>C	c.(730-732)gGa>gCa	p.G244A	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.G244A	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	244	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	p.G244E(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCATATTCTCCAGCATCTTC	0.418000													14	96					0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66109074	66109074	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:66109074C>T	ENST00000359957.3	-	3	320	c.160G>A	c.(160-162)Gag>Aag	p.E54K	BRMS1_ENST00000425825.2_Missense_Mutation_p.E54K	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	54					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CGGCGTCGCTCATAGTCCTCA	0.582000													28	135					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958087	12958087	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr8:12958087C>T	ENST00000276297.4	-	9	2168	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	DLC1_ENST00000520226.1_Missense_Mutation_p.E76K|DLC1_ENST00000358919.2_Missense_Mutation_p.E150K|DLC1_ENST00000512044.2_Missense_Mutation_p.E184K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	587					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCTGGCGCTCGCTGAGGTCC	0.672000													9	43					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119660340	119660340	+	Missense_Mutation	SNP	C	C	T	rs149595481		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:119660340C>T	ENST00000379735.5	-	18	2615	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	SEC24D_ENST00000280551.6_Missense_Mutation_p.E781K|SEC24D_ENST00000419654.2_Missense_Mutation_p.E337K|SEC24D_ENST00000511481.1_Missense_Mutation_p.E412K|SEC24D_ENST00000429811.2_Missense_Mutation_p.E337K|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	781					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCATCTGTCTCACAGCTCTTA	0.418000													13	48					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70196880	70196880	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:70196880G>C	ENST00000399180.2	-	10	1791	c.1792C>G	c.(1792-1794)Cta>Gta	p.L598V	DNA2_ENST00000399179.2_Missense_Mutation_p.L512V|DNA2_ENST00000358410.3_Missense_Mutation_p.L512V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	512					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCTGCCATTAGATTTGTGACA	0.368000													25	97					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227920358	227920358	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:227920358G>A	ENST00000366758.3	-	6	1126	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.S360L|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	376										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTTGATGCCCGAGCAGGACCT	0.587000													8	25					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50091136	50091136	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr5:50091136A>T	ENST00000281631.5	+	12	1471	c.1313A>T	c.(1312-1314)aAg>aTg	p.K438M	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.K438M|PARP8_ENST00000514342.2_Missense_Mutation_p.K191M|PARP8_ENST00000505697.2_Missense_Mutation_p.K438M|PARP8_ENST00000505554.1_Missense_Mutation_p.K417M|PARP8_ENST00000514067.2_Missense_Mutation_p.K438M	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	438						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTGCCCCCAAGTCATCCAAA	0.433000													11	26					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47704056	47704056	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:47704056C>A	ENST00000254480.5	-	20	2045	c.1926G>T	c.(1924-1926)tgG>tgT	p.W642C	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	642	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.W642C(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ACACTTTGTTCCAATCATCCT	0.398000													13	41					0.000219431	0.000230794	1	1	0
UTRN	7402	broad.mit.edu	37	6	145156965	145156965	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:145156965G>C	ENST00000367545.3	+	69	9715	c.9715G>C	c.(9715-9717)Gag>Cag	p.E3239Q	UTRN_ENST00000367526.4_Missense_Mutation_p.E794Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3239					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACTCGGAGGAGAGTCCCCAGT	0.552000													80	206					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106880211	106880211	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:106880211G>C	ENST00000379987.2	+	10	1489	c.1273G>C	c.(1273-1275)Gac>Cac	p.D425H	NPNT_ENST00000427316.2_Missense_Mutation_p.D455H|NPNT_ENST00000506666.1_Missense_Mutation_p.D426H|NPNT_ENST00000453617.2_Missense_Mutation_p.D442H|NPNT_ENST00000514622.1_Missense_Mutation_p.D396H|NPNT_ENST00000305572.8_Missense_Mutation_p.D396H	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	425	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTGTAATTTTGACCATGGACT	0.383000													6	28					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568328	45568328	+	RNA	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:45568328C>T	ENST00000256692.5	-	0	357					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATGTATTATCTACAGAATGA	0.468000													34	69					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727896	77727896	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr11:77727896A>C	ENST00000353172.5	-	2	555	c.511T>G	c.(511-513)Tgc>Ggc	p.C171G	KCTD14_ENST00000533144.1_Missense_Mutation_p.C141G	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	171						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TCCACCAGGCACACAAGCACG	0.527000													60	108					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9803355	9803355	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:9803355G>T	ENST00000256460.3	-	6	693	c.516C>A	c.(514-516)ggC>ggA	p.G172G	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	172	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGAGCACACTGCCCGGGTCCT	0.597000													14	97					3.27435e-08	3.68223e-08	1	1	0
UTRN	7402	broad.mit.edu	37	6	144999632	144999632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr6:144999632G>T	ENST00000367545.3	+	51	7570	c.7570G>T	c.(7570-7572)Gaa>Taa	p.E2524*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.E79*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2524					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGGAAATTCTGAAGAGGCTAC	0.388000													47	39					1.00953e-15	1.16761e-15	1	1	0
ZNF620	253639	broad.mit.edu	37	3	40557596	40557596	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:40557596G>C	ENST00000314529.6	+	5	660	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	ZNF620_ENST00000418905.1_Missense_Mutation_p.E57Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGAGAAGTTTGAGAAATTAGG	0.398000													58	33					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011206	108011206	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:108011206G>C	ENST00000280758.5	+	9	2752	c.2224G>C	c.(2224-2226)Gga>Cga	p.G742R	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.G742R|BTBD11_ENST00000357167.4_Missense_Mutation_p.G279R	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	742						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCAGCCCACGGACACAGGTA	0.547000													7	48					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003397	41003397	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr17:41003397G>T	ENST00000308423.2	+	1	197	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	13					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCTCATTCTGGCCGTCATCAC	0.542000													34	155					1.60099e-16	1.86495e-16	1	1	0
BTBD11	121551	broad.mit.edu	37	12	107914403	107914403	+	Silent	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr12:107914403C>T	ENST00000280758.5	+	2	1803	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	BTBD11_ENST00000420571.2_Silent_p.I425I|BTBD11_ENST00000490090.2_Silent_p.I425I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	425						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAGGCAGCATCGCCGAATTGA	0.557000													23	52					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753473	45753473	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:45753473C>T	ENST00000297323.7	+	20	3261	c.3239C>T	c.(3238-3240)gCt>gTt	p.A1080V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1080					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTTGGGAGAGCTGGCCTTCAG	0.602000													12	66					0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70048287	70048287	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr10:70048287G>A	ENST00000358769.2	-	8	846	c.644C>T	c.(643-645)tCa>tTa	p.S215L	PBLD_ENST00000432941.1_Missense_Mutation_p.S215L|PBLD_ENST00000336578.1_Missense_Mutation_p.S182L|PBLD_ENST00000495025.2_Missense_Mutation_p.S215L|PBLD_ENST00000309049.4_Missense_Mutation_p.S215L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	215					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AAAATATCTTGAGTAAAAGTC	0.478000													15	43					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184550507	184550507	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:184550507G>C	ENST00000437079.3	+	4	424	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	VPS8_ENST00000436792.2_Missense_Mutation_p.E85Q|VPS8_ENST00000446204.2_Missense_Mutation_p.E85Q|VPS8_ENST00000424463.2_Missense_Mutation_p.E85Q|VPS8_ENST00000287546.4_Missense_Mutation_p.E85Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	85							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTTTATTCTTGAGGATCCTAC	0.338000													14	22					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122289441	122289441	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:122289441C>G	ENST00000296161.4	+	4	2264	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C	DTX3L_ENST00000383661.3_Missense_Mutation_p.S180C	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	692					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GTGGGGTACTCTCGCGTATTA	0.428000													36	56					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5919732	5919732	+	Silent	SNP	A	A	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr9:5919732A>T	ENST00000399933.3	-	8	6263	c.6264T>A	c.(6262-6264)ccT>ccA	p.P2088P	KIAA2026_ENST00000381461.2_Silent_p.P2058P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2088										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)		ACTGAAAAGCAGGGAAGACAG	0.438000													8	8					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160696	49160696	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:49160696G>A	ENST00000418109.1	-	27	4257	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1365W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1365	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCGATGCCGAGCACTTGCC	0.587000													20	102					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349277	233349277	+	Silent	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:233349277G>T	ENST00000304546.1	-	6	1299	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ECEL1_ENST00000409941.1_Silent_p.I363I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	363					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCTCCTGGAAGATCTGGTCTA	0.607000													28	104					8.16721e-17	9.548e-17	1	1	0
PRMT10	90826	broad.mit.edu	37	4	148591836	148591836	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr4:148591836C>G	ENST00000322396.6	-	5	1044	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	PRMT10_ENST00000541232.1_Missense_Mutation_p.E155Q|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	268						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATCAAACTCTCCACAATTCCT	0.323000													14	72					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150751356	150751356	+	Silent	SNP	T	T	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:150751356T>G	ENST00000485972.1	-	11	1416	c.735A>C	c.(733-735)acA>acC	p.T245T	CDK5_ENST00000297518.4_Silent_p.T213T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	245	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CCAGGGATGTTGTGGCCGGGT	0.607000													6	24					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452780	130452780	+	Silent	SNP	A	A	G			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr3:130452780A>G	ENST00000356763.3	-	4	1619	c.1062T>C	c.(1060-1062)atT>atC	p.I354I		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	354					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGAGATTGTGAATAATGTTGC	0.443000													65	108					0	0	1	0	0
PRPF38A	84950	broad.mit.edu	37	1	52876865	52876865	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:52876865G>T	ENST00000257181.9	+	4	677	c.491G>T	c.(490-492)cGa>cTa	p.R164L	PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	164					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ATTCTGCCCCGACTACAGGTA	0.413000													16	74					2.23348e-06	2.46062e-06	1	1	0
BAI2	576	broad.mit.edu	37	1	32200829	32200829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:32200829delG	ENST00000373658.3	-	25	3748	c.3407delC	c.(3406-3408)gcgfs	p.A1136fs	BAI2_ENST00000398547.1_Frame_Shift_Del_p.A1069fs|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000398538.1_Frame_Shift_Del_p.A1124fs|BAI2_ENST00000398556.3_Intron|BAI2_ENST00000257070.4_Intron|BAI2_ENST00000373655.2_Frame_Shift_Del_p.A1136fs|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Intron|BAI2_ENST00000527361.1_Intron	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1136					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGGGGACCGCTCCACACGC	0.697													2	4	---	---	---	---					
RBM34	23029	broad.mit.edu	37	1	235295086	235295097	+	In_Frame_Del	DEL	GTTTTAAGGAGA	GTTTTAAGGAGA	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr1:235295086_235295097delGTTTTAAGGAGA	ENST00000408888.3	-	11	1454_1465	c.1224_1235delTCTCCTTAAAAC	c.(1222-1236)gttctccttaaaacg>gtg	p.LLKT409del	RBM34_ENST00000366606.3_In_Frame_Del_p.LLKT404del|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	409						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTTCTTCTTCGTTTTAAGGAGAACAGCTTTTT	0.377													7	71	---	---	---	---					
PUS10	150962	broad.mit.edu	37	2	61188622	61188623	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr2:61188622_61188623delCA	ENST00000316752.6	-	10	1110_1111	c.849_850delTG	c.(847-852)tgtgctfs	p.A284fs	PUS10_ENST00000407787.1_Frame_Shift_Del_p.A284fs	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	284					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GCACCATGAGCACATTCAATTT	0.376													56	394	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226570	+	RNA	DEL	TT	TT	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:65226569_65226570delTT	ENST00000442266.1	+	0	1167																											gcccggccCCtttttttttttt	0.416													2	4	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150815661	150815672	+	In_Frame_Del	DEL	ACTCGCCCAGCC	ACTCGCCCAGCC	-	rs62489621		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr7:150815661_150815672delACTCGCCCAGCC	ENST00000397238.2	+	7	911_922	c.911_922delACTCGCCCAGCC	c.(910-924)aactcgcccagccac>aac	p.SPSH305del	AGAP3_ENST00000479901.1_In_Frame_Del_p.SPSH305del|AGAP3_ENST00000335367.3_In_Frame_Del_p.SPSH485del|AGAP3_ENST00000463381.1_In_Frame_Del_p.SPSH77del|AGAP3_ENST00000473312.1_In_Frame_Del_p.SPSH305del	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	269	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCACTGCCCAACTCGCCCAGCCACTCGGCCGT	0.642													13	91	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													2	4	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42041699	42041699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr15:42041699delC	ENST00000219905.7	+	17	6075	c.5894delC	c.(5893-5895)tccfs	p.S1965fs	MGA_ENST00000570161.1_Frame_Shift_Del_p.S1965fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.S1926fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.S1756fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.S1756fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1926						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CATGTTGCTTCCCTTCAGATG	0.438													17	30	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													3	3	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													3	6	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	118121	118121	+	RNA	DEL	T	T	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr18:118121delT	ENST00000608049.1	+	0	730					NR_033770.1																						GTTTGACTAATTTTTTTTTTA	0.214													2	4	---	---	---	---					
CD320	51293	broad.mit.edu	37	19	8368738	8368738	+	Splice_Site	DEL	C	C	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr19:8368738delC	ENST00000301458.5	-	3	567		c.e3+1		CD320_ENST00000537716.2_Splice_Site	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule						regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						CAGGTGCATACCACAGCCGAG	0.682													2	4	---	---	---	---					
CCM2L	140706	broad.mit.edu	37	20	30617624	30617624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chr20:30617624delG	ENST00000300415.8	+	9	1398	c.1385delG	c.(1384-1386)cgcfs	p.R462fs	CCM2L_ENST00000262659.8_3'UTR|RP1-310O13.7_ENST00000449519.1_RNA					cerebral cavernous malformation 2-like																		GGAGACCGGCGCAAGTTCCTC	0.632													14	75	---	---	---	---					
AMMECR1	9949	broad.mit.edu	37	X	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-UY-A9PE-01A-11D-A38G-08	TCGA-UY-A9PE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73b4d64c-73a7-48fa-a2ba-100226f56348	368788cf-d48d-47e8-83de-2f051c1d8785	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)tccdel	p.S31del	AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del|AMMECR1_ENST00000372057.1_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.680													3	5	---	---	---	---					
