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
MROH7	374977	broad.mit.edu	37	1	55145695	55145695	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:55145695C>T	ENST00000414150.2	+	13	2636	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	MROH7_ENST00000409996.1_Silent_p.L354L|MROH7_ENST00000395690.2_Silent_p.L786L|MROH7_ENST00000545244.1_Silent_p.L354L|MROH7_ENST00000421030.2_Silent_p.L786L|MROH7_ENST00000339553.5_Silent_p.L786L|MROH7_ENST00000454855.2_Silent_p.L304L					maestro heat-like repeat family member 7																		TGGCCCTGCTCATGTGCCCCC	0.647000													60	68					0	0	0.003610	0	0
TOP3A	7156	broad.mit.edu	37	17	18178288	18178288	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:18178288G>T	ENST00000321105.5	-	19	3048	c.2834C>A	c.(2833-2835)tCt>tAt	p.S945Y	TOP3A_ENST00000542570.1_Missense_Mutation_p.S850Y|TOP3A_ENST00000540524.1_Missense_Mutation_p.S475Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	945					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGGGCTCCAGAAGTCCCTGT	0.592000													26	56					4.7796e-09	1.40666e-08	0.004656	1	0
COL3A1	1281	broad.mit.edu	37	2	189867029	189867029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189867029G>C	ENST00000304636.3	+	35	2567	c.2397G>C	c.(2395-2397)gaG>gaC	p.E799D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E799D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	799	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCAGGGTGAGAGAGGTGAAA	0.438000													9	31					0	0	0.004482	0	0
HAUS1	115106	broad.mit.edu	37	18	43698200	43698200	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:43698200C>A	ENST00000282058.6	+	3	339	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	87					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCCCGCCAATCTCTCTAGCAC	0.418000													17	77					8.34094e-07	2.37947e-06	0.008871	1	0
RIN3	79890	broad.mit.edu	37	14	93118236	93118236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:93118236C>T	ENST00000216487.7	+	6	1001	c.842C>T	c.(841-843)cCa>cTa	p.P281L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	281	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGccgcccaccaccccctccc	0.711000													25	23					0	0	0.003954	0	0
PPEF2	5470	broad.mit.edu	37	4	76811247	76811247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:76811247C>T	ENST00000286719.7	-	5	636	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	94					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGTCCTGGGCGAATCTGTCC	0.522000													35	38					0	0	0.003755	0	0
FIGN	55137	broad.mit.edu	37	2	164466892	164466892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:164466892C>G	ENST00000333129.3	-	3	1764	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	484						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCATTCCAGTCCACTGGAGGT	0.512000													11	89					0	0	0.001855	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536273	130536273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:130536273C>T	ENST00000314830.8	-	2	624	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	171					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTACCTTTCTGAGTGCACG	0.522000													31	12					0	0	0.008361	0	0
TG	7038	broad.mit.edu	37	8	133898695	133898695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:133898695G>T	ENST00000220616.4	+	9	1118	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	TG_ENST00000377869.1_Nonsense_Mutation_p.E360*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493000													50	98					3.86236e-30	1.22177e-29	0.003610	1	0
CCRN4L	25819	broad.mit.edu	37	4	139965958	139965958	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:139965958G>C	ENST00000280614.2	+	3	819	c.626G>C	c.(625-627)aGa>aCa	p.R209T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	209					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTCCTCAGTAGACTAGGCTAT	0.458000													16	77					0	0	0.004990	0	0
CACNB1	782	broad.mit.edu	37	17	37343809	37343809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37343809G>T	ENST00000394303.3	-	4	544	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	CACNB1_ENST00000394310.3_Missense_Mutation_p.P113T|CACNB1_ENST00000344140.5_Missense_Mutation_p.P113T|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	113	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCTGGAGACGGATTGTAGCCA	0.562000													53	71					2.17126e-26	6.82186e-26	0.003610	1	0
ZNF669	79862	broad.mit.edu	37	1	247264162	247264162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:247264162C>G	ENST00000343381.6	-	4	1081	c.909G>C	c.(907-909)gaG>gaC	p.E303D	ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.E217D|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGTAGGGTTTCTCTCCAGTGT	0.383000													7	49					0	0	0.001984	0	0
MYO5A	4644	broad.mit.edu	37	15	52697571	52697571	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52697571T>A	ENST00000399231.3	-	9	1209	c.966A>T	c.(964-966)caA>caT	p.Q322H	MYO5A_ENST00000399233.2_Missense_Mutation_p.Q322H|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q322H|MYO5A_ENST00000553916.1_Missense_Mutation_p.Q322H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q322H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	322	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATTCCCATTTGATGAGATT	0.363000													8	21					0	0	0.003080	0	0
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:248637569G>A	ENST00000359594.2	+	1	943	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	306				L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478000													44	349					0	0	0.003610	0	0
EHD1	10938	broad.mit.edu	37	11	64622855	64622855	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:64622855T>C	ENST00000320631.3	-	4	1273	c.1019A>G	c.(1018-1020)cAg>cGg	p.Q340R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q340R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCAATCTTCTGGTAGATCTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0.002780	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42166142G>T	ENST00000320955.6	-	25	5018	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000													22	24					3.62473e-10	1.08045e-09	0.001882	1	0
GCK	2645	broad.mit.edu	37	7	44191894	44191894	+	Silent	SNP	G	G	A	rs149412035	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:44191894G>A	ENST00000403799.3	-	3	808	c.339C>T	c.(337-339)gaC>gaT	p.D113D	GCK_ENST00000395796.3_Silent_p.D112D|GCK_ENST00000345378.2_Silent_p.D114D|GCK_ENST00000437084.1_Silent_p.D113D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	113					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.D114D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGTCATGGCGTCCTCGGGGA	0.632000													98	84					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	RNA	SNP	T	T	A	rs13566		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110																											GCGGGATAGCTCGGTGGAGAG	0.612000													13	65					0	0	0.001368	0	0
SPTA1	6708	broad.mit.edu	37	1	158595954	158595954	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:158595954G>T	ENST00000368148.3	-	42	6072	c.5892C>A	c.(5890-5892)ctC>ctA	p.L1964L	SPTA1_ENST00000368147.3_Silent_p.L1961L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1964					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAAGAGTGAGGAAGTCAC	0.393000													4	27					1.23904e-05	3.45002e-05	0.000602	1	0
HBS1L	10767	broad.mit.edu	37	6	135371740	135371740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:135371740T>C	ENST00000367837.5	-	2	295	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	HBS1L_ENST00000415177.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367824.4_5'UTR|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y30C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000367826.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y30C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	30					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CGAAATACAATAATCATCCTC	0.299000													10	8					0	0	0.000978	0	0
PZP	5858	broad.mit.edu	37	12	9307283	9307283	+	Missense_Mutation	SNP	T	T	A	rs140597579	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:9307283T>A	ENST00000261336.2	-	29	3731	c.3703A>T	c.(3703-3705)Acc>Tcc	p.T1235S	PZP_ENST00000381997.2_Missense_Mutation_p.T1021S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTGCAGAGGTCAGGTCCCCT	0.557000													24	38					0	0	0.003954	0	0
PTH1R	5745	broad.mit.edu	37	3	46937299	46937299	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:46937299G>T	ENST00000449590.1	+	5	456	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	PTH1R_ENST00000430002.2_Missense_Mutation_p.G85W|PTH1R_ENST00000418619.1_Missense_Mutation_p.G85W|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000313049.5_Missense_Mutation_p.G85W	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	85						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TAAGGCATCTGGGAAGCTCTA	0.552000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					2.17888e-05	6.03082e-05	0.006214	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75556724	75556724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:75556724G>T	ENST00000604729.1	+	16	3523	c.3226G>T	c.(3226-3228)Ggg>Tgg	p.G1076W	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1038W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1076W|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1071W|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1071W					zinc finger, SWIM-type containing 8																		GAGTGTGGCAGGGGCTGGGCC	0.647000													11	37					0.000673444	0.0018313	0.008291	1	0
CREBBP	1387	broad.mit.edu	37	16	3778359	3778359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:3778359T>A	ENST00000262367.5	-	31	7498	c.6689A>T	c.(6688-6690)cAg>cTg	p.Q2230L	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q2192L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2230					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTGGAACTGGCCGTGCCC	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	9					0	0	0.004482	0	0
FAM208A	23272	broad.mit.edu	37	3	56675420	56675420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:56675420G>C	ENST00000431842.2	-	8	2312	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	FAM208A_ENST00000355628.5_Missense_Mutation_p.S859C|FAM208A_ENST00000493960.2_Missense_Mutation_p.S859C	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	859										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTCGCTGGTAGAAATAGCAAC	0.403000													5	18					0	0	0.000602	0	0
GAB2	9846	broad.mit.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562000													10	43					0	0	0.006214	0	0
EPHB4	2050	broad.mit.edu	37	7	100420076	100420076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:100420076C>T	ENST00000358173.3	-	4	1093	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.E209K	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	209	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACAGTCTCCGGGAATCGA	0.657000													11	31					0	0	0.008291	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963135	88963135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:88963135A>C	ENST00000333190.4	+	4	1448	c.839A>C	c.(838-840)gAg>gCg	p.E280A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	280						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGAAAAAGAGGTAAATATC	0.358000										HNSCC(36;0.09)			11	39					0	0	0.000978	0	0
P2RY2	5029	broad.mit.edu	37	11	72945507	72945507	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:72945507C>T	ENST00000311131.2	+	3	770	c.303C>T	c.(301-303)ttC>ttT	p.F101F	P2RY2_ENST00000393596.2_Silent_p.F101F|P2RY2_ENST00000393597.2_Silent_p.F101F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	101					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTGGCCCTTCAGCACGGTGC	0.597000													21	96					0	0	0.008871	0	0
MGAT4B	11282	broad.mit.edu	37	5	179226007	179226007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:179226007C>T	ENST00000337755.5	-	10	2195	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MGAT4B_ENST00000292591.7_Missense_Mutation_p.E422K	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	422					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTCGCGCAGGTAG	0.607000													54	76					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7578217G>A	ENST00000420246.2	-	6	764	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000455263.2_Missense_Mutation_p.T211I|TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.T211I|TP53_ENST00000445888.2_Missense_Mutation_p.T211I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(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)		ATGTCGAAAAGTGTTTCTGTC	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	22					0	0	0.001855	0	0
DHH	50846	broad.mit.edu	37	12	49488008	49488008	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:49488008G>A	ENST00000266991.2	-	1	594	c.288C>T	c.(286-288)gaC>gaT	p.D96D		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	96					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						TCATCAGGCGGTCGGCTCCAC	0.642000													20	40					0	0	0.001882	0	0
PTAR1	375743	broad.mit.edu	37	9	72338400	72338400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:72338400C>G	ENST00000377200.5	-	4	554	c.552G>C	c.(550-552)ttG>ttC	p.L184F	PTAR1_ENST00000340434.4_Missense_Mutation_p.L263F			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	263					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GCTCACTTCTCAAAGGATTTT	0.423000													19	53					0	0	0.006122	0	0
MAPK15	225689	broad.mit.edu	37	8	144801638	144801638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144801638C>T	ENST00000338033.4	+	7	826	c.707C>T	c.(706-708)cCg>cTg	p.P236L	MAPK15_ENST00000395107.4_Missense_Mutation_p.P253L|MAPK15_ENST00000395108.2_Missense_Mutation_p.P236L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCATCCCACCGCCATCTGAG	0.657000													26	28					0	0	0.003954	0	0
DMBT1	1755	broad.mit.edu	37	10	124348656	124348656	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:124348656C>T	ENST00000338354.3	+	17	2086	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	DMBT1_ENST00000368909.3_Silent_p.G660G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Silent_p.G650G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.G650G|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	660	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.602000													58	158					0	0	0.003610	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799785	119799785	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:119799785A>G	ENST00000355624.3	-	2	1084	c.645T>C	c.(643-645)ttT>ttC	p.F215F	RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.F215F|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	215					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCCAAGAGAAAAGGCTTTT	0.433000													22	67					0	0	0.002299	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686819	27686819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:27686819G>A	ENST00000374040.3	-	15	2331	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C	MAP3K6_ENST00000357582.2_Missense_Mutation_p.R699C|MAP3K6_ENST00000493901.1_Missense_Mutation_p.R699C			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	699	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGCAGGCGTCTGTGAAGA	0.592000													9	40					0	0	0.008291	0	0
TKTL2	84076	broad.mit.edu	37	4	164394488	164394488	+	Silent	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:164394488T>A	ENST00000280605.3	-	1	559	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	133						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATTCCACATGCAGTACCTA	0.547000													20	65					0	0	0.002299	0	0
HSH2D	84941	broad.mit.edu	37	19	16268177	16268177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:16268177C>T	ENST00000593154.2	+	8	1163	c.632C>T	c.(631-633)cCc>cTc	p.P211L	HSH2D_ENST00000588246.1_Missense_Mutation_p.P211L|HSH2D_ENST00000397372.4_Missense_Mutation_p.P122L|HSH2D_ENST00000253680.6_Missense_Mutation_p.P211L	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	211						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AAAATGCTCCCCGAGAGAGGC	0.562000													19	34					0	0	0.008871	0	0
ZNF644	84146	broad.mit.edu	37	1	91406595	91406595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:91406595C>T	ENST00000370440.1	-	3	533	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.E106K|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAAGTTTTCACTAGAAACA	0.408000													10	45					0	0	0.006214	0	0
MGA	23269	broad.mit.edu	37	15	42054540	42054540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:42054540G>C	ENST00000219905.7	+	22	7905	c.7724G>C	c.(7723-7725)aGa>aCa	p.R2575T	MGA_ENST00000389936.4_Missense_Mutation_p.R2536T|MGA_ENST00000566586.1_Missense_Mutation_p.R2366T|MGA_ENST00000570161.1_Missense_Mutation_p.R2575T|MGA_ENST00000545763.1_Missense_Mutation_p.R2366T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2536						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)		ATTCTTTCCAGAAAAAAAGAC	0.423000													9	62					0	0	0.000978	0	0
WDR92	116143	broad.mit.edu	37	2	68365916	68365916	+	Silent	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68365916G>C	ENST00000295121.6	-	5	707	c.591C>G	c.(589-591)ctC>ctG	p.L197L	WDR92_ENST00000409164.1_Silent_p.L197L|WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Silent_p.L96L	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	197					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CCATATTTCTGAGATCAAATA	0.383000													32	114					0	0	0.002445	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985505	140985505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:140985505G>T	ENST00000298296.1	+	8	1819	c.1819G>T	c.(1819-1821)Gct>Tct	p.A607S	MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	607	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTACATGGATGCTTTGAAAGA	0.488000													46	15					8.01111e-26	2.50011e-25	0.002522	1	0
INTS1	26173	broad.mit.edu	37	7	1526591	1526591	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:1526591G>A	ENST00000389470.4	-	22	3221	c.3222C>T	c.(3220-3222)ggC>ggT	p.G1074G	INTS1_ENST00000404767.3_Silent_p.G931G			Q8N201	INT1_HUMAN	integrator complex subunit 1	931					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTTGCTCTCGCCCTCGTCGT	0.692000													5	20					0	0	0.001168	0	0
TYR	7299	broad.mit.edu	37	11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:89018057G>C	ENST00000263321.5	+	4	1803	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	434			R -> I (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTGTACAGAAATGGTGAT	0.403000													17	44					0	0	0.004007	0	0
MON2	23041	broad.mit.edu	37	12	62954421	62954421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:62954421C>T	ENST00000393630.3	+	27	3954	c.3563C>T	c.(3562-3564)aCa>aTa	p.T1188I	MON2_ENST00000280379.6_Missense_Mutation_p.T1188I|MON2_ENST00000552738.1_Missense_Mutation_p.T1164I|MON2_ENST00000393632.2_Missense_Mutation_p.T1187I|MON2_ENST00000393629.2_Missense_Mutation_p.T1187I|MON2_ENST00000546600.1_Missense_Mutation_p.T1187I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1188					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCCTGAGACACCACCTGTA	0.443000													15	32					0	0	0.004007	0	0
ZNF530	348327	broad.mit.edu	37	19	58118331	58118331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:58118331C>T	ENST00000332854.6	+	3	1658	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACCTCATTCGACACCAGAC	0.433000													29	28					0	0	0.007291	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088343	43088343	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:43088343T>C	ENST00000359467.3	-	5	2169	c.2055A>G	c.(2053-2055)agA>agG	p.R685R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	685						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCGTGTGCTTTCTCTCATGTA	0.403000													26	62					0	0	0.003330	0	0
ALG2	85365	broad.mit.edu	37	9	101980370	101980370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:101980370G>A	ENST00000476832.1	-	2	1158	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	ALG2_ENST00000319033.6_Missense_Mutation_p.P273L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	366					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.P366Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGCACCGGGTCAGGCTC	0.502000													26	59					0	0	0.003954	0	0
ATIC	471	broad.mit.edu	37	2	216191665	216191665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:216191665C>A	ENST00000435675.1	+	6	1040	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	ATIC_ENST00000236959.9_Missense_Mutation_p.Q218K|ATIC_ENST00000540518.1_Missense_Mutation_p.Q159K			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	218					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GACCCCTGCCCAGCTGTACAC	0.483000			T	ALK	ALCL								26	79					7.92952e-12	2.37886e-11	0.003954	1	0
ZBTB8OS	339487	broad.mit.edu	37	1	33116074	33116074	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:33116074C>T	ENST00000468695.1	-	1	111	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ZBTB8OS_ENST00000341885.5_Silent_p.A31A|ZBTB8OS_ENST00000373501.2_Silent_p.A19A|ZBTB8OS_ENST00000492007.1_5'UTR	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	19										endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCTTGATCGCCTTCTGTT	0.483000													39	74					0	0	0.004878	0	0
TICRR	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90119305C>T	ENST00000268138.7	+	1	593	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TICRR_ENST00000560985.1_Missense_Mutation_p.S163L|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		TGTCCGCACTCGCAGAGGGAG	0.682000													9	8					0	0	0.004482	0	0
CPSF1	29894	broad.mit.edu	37	8	145624248	145624248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145624248C>T	ENST00000349769.3	-	17	1653	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	520					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCTGGGGCCGGATGCTCTT	0.642000													97	85					0	0	0.003610	0	0
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:161221279G>A	ENST00000327928.4	+	4	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	328	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572000													4	27					0	0	0.000602	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800310	74800310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:74800310G>A	ENST00000305159.3	-	1	489	c.449C>T	c.(448-450)gCa>gTa	p.A150V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCACTGGCTGCCAAGGTAGC	0.557000													47	57					0	0	0.003610	0	0
DDX39A	10212	broad.mit.edu	37	19	14520565	14520565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:14520565C>G	ENST00000242776.4	-	7	954	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	285	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGGTTAAACTCCAGCACATCC	0.562000													19	41					0	0	0.007413	0	0
MYBPC1	4604	broad.mit.edu	37	12	102030483	102030483	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:102030483C>T	ENST00000549145.1	+	9	706	c.606C>T	c.(604-606)gaC>gaT	p.D202D	MYBPC1_ENST00000547509.1_Silent_p.D175D|MYBPC1_ENST00000553190.1_Silent_p.D189D|MYBPC1_ENST00000551300.1_Silent_p.D90D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.D189D|MYBPC1_ENST00000547405.1_Silent_p.D163D|MYBPC1_ENST00000545503.2_Silent_p.D189D|MYBPC1_ENST00000541119.1_Silent_p.D177D|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Silent_p.D189D|MYBPC1_ENST00000441232.1_Silent_p.D189D|MYBPC1_ENST00000392934.3_Silent_p.D176D|MYBPC1_ENST00000361685.2_Silent_p.D214D|MYBPC1_ENST00000361466.2_Silent_p.D214D|MYBPC1_ENST00000360610.2_Silent_p.D189D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	189					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGAACTTGACTTTAGTGGTC	0.428000													7	21					0	0	0.001984	0	0
KRT27	342574	broad.mit.edu	37	17	38933792	38933792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:38933792A>T	ENST00000301656.3	-	6	1205	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	389	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ATCAGGAGGCAGTAGGTCTCA	0.443000													23	105					0	0	0.002780	0	0
NME9	347736	broad.mit.edu	37	3	138023770	138023770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:138023770G>A	ENST00000383180.2	-	10	790	c.553C>T	c.(553-555)Cga>Tga	p.R185*	NME9_ENST00000333911.3_Nonsense_Mutation_p.R246*|NME9_ENST00000317876.4_Nonsense_Mutation_p.R185*|NME9_ENST00000484930.1_Nonsense_Mutation_p.R183*|NME9_ENST00000341790.5_Nonsense_Mutation_p.R183*|NME9_ENST00000536478.1_Nonsense_Mutation_p.R185*	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	246	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATGACGGTTCGCCAGGTAGTG	0.572000													30	170					0	0	0.007291	0	0
SP7	121340	broad.mit.edu	37	12	53722831	53722831	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:53722831G>T	ENST00000536324.2	-	3	678	c.395C>A	c.(394-396)aCa>aAa	p.T132K	SP7_ENST00000537210.2_Missense_Mutation_p.T114K|SP7_ENST00000303846.3_Missense_Mutation_p.T132K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATAGGGGTGTGTCATGTCCAG	0.602000													16	40					2.23348e-06	6.29436e-06	0.004007	1	0
CEP170B	283638	broad.mit.edu	37	14	105355876	105355876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:105355876C>T	ENST00000453495.1	+	13	3995	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	CEP170B_ENST00000414716.3_Intron|CEP170B_ENST00000418279.1_Intron|CEP170B_ENST00000556508.1_Missense_Mutation_p.S1185L					centrosomal protein 170B																		CAGCAGGGCTCGGATTACACG	0.607000													4	17					0	0	0.000248	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519867	113519867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:113519867A>G	ENST00000284601.3	-	4	1348	c.1280T>C	c.(1279-1281)cTa>cCa	p.L427P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	427					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATTGCACTAGTTCATCACT	0.428000													85	62					0	0	0.003610	0	0
ZP4	57829	broad.mit.edu	37	1	238048742	238048742	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:238048742G>A	ENST00000366570.4	-	8	1267	c.1109C>T	c.(1108-1110)aCa>aTa	p.T370I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	370	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTGCTGGGTGTTGCCCAACA	0.537000													17	56					0	0	0.006122	0	0
TMEM116	89894	broad.mit.edu	37	12	112369498	112369498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:112369498C>G	ENST00000354825.3	-	13	1320	c.665G>C	c.(664-666)aGa>aCa	p.R222T	TMEM116_ENST00000355445.3_Missense_Mutation_p.R279T|TMEM116_ENST00000552374.2_Missense_Mutation_p.R314T|TMEM116_ENST00000549537.2_Missense_Mutation_p.R128T|TMEM116_ENST00000550831.3_Missense_Mutation_p.R222T|TMEM116_ENST00000437003.2_Missense_Mutation_p.R222T			Q8NCL8	TM116_HUMAN	transmembrane protein 116	222						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTATAGAATCTCTTCTGTGA	0.453000													22	64					0	0	0.002299	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726199	3726199	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:3726199G>A	ENST00000254963.2	+	6	658	c.513G>A	c.(511-513)gaG>gaA	p.E171E	HSPA12B_ENST00000542646.1_Silent_p.E5E	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	171							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGCCCTGGAGGTGTTCGCCC	0.637000													12	51					0	0	0.001855	0	0
ACOT12	134526	broad.mit.edu	37	5	80667608	80667608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:80667608G>C	ENST00000307624.3	-	3	247	c.219C>G	c.(217-219)atC>atG	p.I73M	ACOT12_ENST00000513751.1_Missense_Mutation_p.I73M	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	73	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTGCTTTGATGGTTATAA	0.363000													18	44					0	0	0.007413	0	0
ZNF479	90827	broad.mit.edu	37	7	57188597	57188597	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:57188597A>G	ENST00000331162.4	-	5	795	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATCTTGTTTTATCTCTATTGG	0.279000													18	40					0	0	0.004990	0	0
PPP6R3	55291	broad.mit.edu	37	11	68318642	68318642	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:68318642G>T	ENST00000393799.2	+	6	873	c.606G>T	c.(604-606)tcG>tcT	p.S202S	PPP6R3_ENST00000524904.1_Silent_p.S202S|PPP6R3_ENST00000524845.1_Silent_p.S202S|PPP6R3_ENST00000393800.2_Silent_p.S202S|PPP6R3_ENST00000393801.3_Silent_p.S202S|PPP6R3_ENST00000527403.2_Silent_p.S202S|PPP6R3_ENST00000265636.5_Silent_p.S202S|PPP6R3_ENST00000265637.4_Silent_p.S202S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Silent_p.S202S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	202					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCATCCATCGCAAGAAGAAG	0.333000													15	50					7.93312e-07	2.2771e-06	0.002450	1	0
ZNF248	57209	broad.mit.edu	37	10	38120569	38120569	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:38120569T>C	ENST00000395867.3	-	6	2264	c.1714A>G	c.(1714-1716)Agg>Ggg	p.R572G	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R572G|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCTTTCACCCTTGTGTGAATT	0.423000													10	38					0	0	0.006214	0	0
TIGD5	84948	broad.mit.edu	37	8	144681367	144681367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144681367G>A	ENST00000321385.3	+	1	1294	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	TIGD5_ENST00000504548.2_Missense_Mutation_p.E432K			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	432					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTACAAGCGCGAGCTGCTGCG	0.647000													10	28					0	0	0.008291	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351103	89351103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr16:89351103T>G	ENST00000301030.4	-	9	2307	c.1847A>C	c.(1846-1848)gAg>gCg	p.E616A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E616A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	616						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCGCCCTCCGCGCTGGA	0.537000													10	41					0	0	0.006214	0	0
MEOX2	4223	broad.mit.edu	37	7	15725704	15725704	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:15725704G>T	ENST00000262041.5	-	1	733	c.324C>A	c.(322-324)ctC>ctA	p.L108L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	108					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCTGGAGGCAGAGGCTGTGCC	0.667000													10	3					4.68919e-08	1.3628e-07	0.008291	1	0
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:51773152G>T	ENST00000251076.5	-	24	6438	c.6151C>A	c.(6151-6153)Ctt>Att	p.L2051I	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363000													5	108					0.00116845	0.00315888	0.001168	1	0
AP3D1	8943	broad.mit.edu	37	19	2110868	2110868	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:2110868C>G	ENST00000355272.6	-	27	3219	c.3013G>C	c.(3013-3015)Gag>Cag	p.E1005Q	AP3D1_ENST00000345016.5_Missense_Mutation_p.E943Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E902Q|AP3D1_ENST00000350812.6_Missense_Mutation_p.E774Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	943					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGGCTGTCCTCCTGCAGACTG	0.622000													5	29					0	0	0.000602	0	0
KNTC1	9735	broad.mit.edu	37	12	123019279	123019279	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:123019279A>G	ENST00000333479.7	+	3	375	c.198A>G	c.(196-198)tcA>tcG	p.S66S	KNTC1_ENST00000450485.2_Silent_p.S66S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	66					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCGACCAATCAGTGATATTGC	0.353000													3	21					0	0	0.000248	0	0
MUC5B	727897	broad.mit.edu	37	11	1263375	1263375	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:1263375C>T	ENST00000447027.1	+	31	5332	c.5274C>T	c.(5272-5274)acC>acT	p.T1758T	MUC5B_ENST00000529681.1_Silent_p.T1755T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1755	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTGTCCACCTCTCAGGCCG	0.642000													9	23					0	0	0.004482	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452858	35452858	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:35452858T>C	ENST00000357182.4	-	16	4052	c.3825A>G	c.(3823-3825)ttA>ttG	p.L1275L	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1275					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAAGGGTAATAAAAATTTCA	0.368000													11	40					0	0	0.000978	0	0
C2orf16	84226	broad.mit.edu	37	2	27804510	27804510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804510G>T	ENST00000408964.2	+	1	5122	c.5071G>T	c.(5071-5073)Gag>Tag	p.E1691*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1691	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCTGAGAGAAGACA	0.577000													41	140					2.05212e-20	6.27786e-20	0.005524	1	0
ELMO1	9844	broad.mit.edu	37	7	36895309	36895309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:36895309C>T	ENST00000310758.4	-	22	2678	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ELMO1_ENST00000396045.3_Missense_Mutation_p.M197I|ELMO1_ENST00000396040.2_Missense_Mutation_p.M197I|ELMO1_ENST00000448602.1_Missense_Mutation_p.M677I|ELMO1_ENST00000341056.3_Missense_Mutation_p.M379I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M677I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	677					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCGCTCATCATGTCCTTCC	0.542000													38	150					0	0	0.003214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761451	92761451	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:92761451C>T	ENST00000318238.4	-	5	5050	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	SAMD9L_ENST00000411955.1_Silent_p.L1278L|SAMD9L_ENST00000437805.1_Silent_p.L1278L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCATTTTCAGAAGAACCA	0.328000													16	61					0	0	0.004007	0	0
EPHA7	2045	broad.mit.edu	37	6	94120657	94120657	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:94120657A>T	ENST00000369303.4	-	3	578	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	EPHA7_ENST00000369297.1_Missense_Mutation_p.Y132N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAGTGTCATAGTCTGTTTCA	0.368000													33	46					0	0	0.002445	0	0
ZNF347	84671	broad.mit.edu	37	19	53644215	53644215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:53644215C>A	ENST00000452676.2	-	5	2295	c.1869G>T	c.(1867-1869)gaG>gaT	p.E623D	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E623D|ZNF347_ENST00000334197.7_Missense_Mutation_p.E622D	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.368000													40	43					2.19962e-31	7.00565e-31	0.008740	1	0
TMOD2	29767	broad.mit.edu	37	15	52058689	52058689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:52058689A>T	ENST00000249700.4	+	2	272	c.51A>T	c.(49-51)gaA>gaT	p.E17D	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E17D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	17					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACATTGATGAAGATGAGCTTC	0.423000													20	26					0	0	0.008871	0	0
HMCN1	83872	broad.mit.edu	37	1	186057074	186057074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:186057074C>G	ENST00000271588.4	+	61	9603	c.9374C>G	c.(9373-9375)aCa>aGa	p.T3125R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3125R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3125	Ig-like C2-type 29.				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						GTATCTGACACAGGCCAGTAT	0.348000													6	52					0	0	0.001984	0	0
DHFR	1719	broad.mit.edu	37	5	79929781	79929781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:79929781G>T	ENST00000439211.2	-	5	893	c.400C>A	c.(400-402)Cta>Ata	p.L134I	DHFR_ENST00000504396.1_Missense_Mutation_p.L82I|DHFR_ENST00000511032.1_Intron|DHFR_ENST00000505337.1_Missense_Mutation_p.L134I|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTCACAAATAGTTTAAGATGG	0.328000													13	32					1.99824e-07	5.7713e-07	0.004990	1	0
OR8I2	120586	broad.mit.edu	37	11	55861217	55861217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:55861217G>C	ENST00000302124.2	+	1	465	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OR8I2_ENST00000560768.1_Missense_Mutation_p.G145A			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACTGGCTGGGAGTAATGCCA	0.433000													45	52					0	0	0.002852	0	0
NAV1	89796	broad.mit.edu	37	1	201759817	201759817	+	Splice_Site	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:201759817C>A	ENST00000367296.4	+	13	3664	c.3243_splice	c.e13-1	p.Q1082_splice	NAV1_ENST00000367300.3_Splice_Site_p.Q1025_splice|NAV1_ENST00000295624.6_Splice_Site_p.Q1082_splice|NAV1_ENST00000367302.1_Splice_Site_p.Q1038_splice|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Splice_Site_p.Q1074_splice|NAV1_ENST00000367295.1_Splice_Site_p.Q691_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1082					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTTTTACAGCAAATCCGGAA	0.448000													18	89					1.67942e-08	4.9115e-08	0.006122	1	0
PLEK	5341	broad.mit.edu	37	2	68615548	68615548	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:68615548T>G	ENST00000234313.7	+	6	866	c.687T>G	c.(685-687)aaT>aaG	p.N229K		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	229					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTGAAGAGAATTCCAGTGATG	0.453000													42	42					0	0	0.002522	0	0
TBC1D32	221322	broad.mit.edu	37	6	121563420	121563420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:121563420A>T	ENST00000275159.6	-	18	2083	c.2084T>A	c.(2083-2085)cTa>cAa	p.L695Q	TBC1D32_ENST00000398212.2_Missense_Mutation_p.L695Q					TBC1 domain family, member 32																		TTGAAGAAGTAGTAATCCTTT	0.343000													16	49					0	0	0.004007	0	0
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				34	86					0	0	0.004289	0	0
PTPN12	5782	broad.mit.edu	37	7	77256506	77256506	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:77256506A>G	ENST00000248594.6	+	13	1782	c.1510A>G	c.(1510-1512)Aac>Gac	p.N504D	PTPN12_ENST00000435495.2_Missense_Mutation_p.N374D|PTPN12_ENST00000415482.2_Missense_Mutation_p.N385D	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	504						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACACAATCAAACAAAGTTTC	0.428000													8	52					0	0	0.004482	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903702	111903702	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:111903702C>T	ENST00000374581.3	-	4	782	c.783G>A	c.(781-783)gtG>gtA	p.V261V		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	261	DOMON.					integral to membrane											TGGGAACATTCACAGGGCGTT	0.448000													61	24					0	0	0.003610	0	0
SLC35D1	23169	broad.mit.edu	37	1	67516168	67516168	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:67516168G>A	ENST00000235345.5	-	5	497	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SLC35D1_ENST00000506472.2_Silent_p.L59L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	138					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AACCTTCTCAGAACTGTAAAC	0.294000													10	24					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38943488	38943488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:38943488G>A	ENST00000355481.4	+	13	1405	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R425Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R425Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAAGCCACGGGGCTCGGGG	0.662000													5	15					0	0	0.001984	0	0
ADAM17	6868	broad.mit.edu	37	2	9661434	9661434	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:9661434G>A	ENST00000310823.3	-	8	1037	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	285	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.L285L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTGGAGACTTGAGAATGCGAA	0.358000													19	65					0	0	0.001523	0	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:7577129A>C	ENST00000420246.2	-	8	941	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.F270C|TP53_ENST00000445888.2_Missense_Mutation_p.F270C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	15					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	145012852	145012852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:145012852C>T	ENST00000322810.4	-	2	701	c.532G>A	c.(532-534)Gat>Aat	p.D178N	PLEC_ENST00000398774.2_Missense_Mutation_p.D9N|PLEC_ENST00000436759.2_Missense_Mutation_p.D68N|PLEC_ENST00000354958.2_Missense_Mutation_p.D19N|PLEC_ENST00000354589.3_Missense_Mutation_p.D41N|PLEC_ENST00000357649.2_Missense_Mutation_p.D45N|PLEC_ENST00000356346.3_Missense_Mutation_p.D27N|PLEC_ENST00000345136.3_Missense_Mutation_p.D41N|PLEC_ENST00000527096.1_Missense_Mutation_p.D68N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	178	Actin-binding.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCACACGATCCCGCTCATCT	0.627000													20	67					0	0	0.001523	0	0
PTCH1	5727	broad.mit.edu	37	9	98239882	98239882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:98239882C>A	ENST00000430669.2	-	10	1837	c.1252G>T	c.(1252-1254)Gga>Tga	p.G418*	PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G418*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G484*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G333*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G483*			Q13635	PTC1_HUMAN	patched 1	484					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G484R(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCCCAGTCCTGCAGCCACT	0.572000													45	10					3.54909e-21	1.09293e-20	0.002852	1	0
ZNF692	55657	broad.mit.edu	37	1	249151487	249151487	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:249151487G>C	ENST00000451251.1	-	4	781	c.436C>G	c.(436-438)Cat>Gat	p.H146D	ZNF692_ENST00000366469.5_Missense_Mutation_p.H141D|ZNF692_ENST00000306601.4_Missense_Mutation_p.H141D|ZNF692_ENST00000427146.1_Missense_Mutation_p.H141D|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.H141D	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTAGTATGTGGAAGGGAG	0.567000													42	53					0	0	0.002222	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666488	160666488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:160666488C>T	ENST00000366952.1	-	8	2465	c.984G>A	c.(982-984)atG>atA	p.M328I	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.M349I			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	349					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACATCAATATCATAGTATGTT	0.373000													7	25					0	0	0.001984	0	0
C18orf8	29919	broad.mit.edu	37	18	21111620	21111620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:21111620C>G	ENST00000269221.3	+	20	2036	c.1926C>G	c.(1924-1926)ttC>ttG	p.F642L	C18orf8_ENST00000591367.1_3'UTR|NPC1_ENST00000269228.5_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.F594L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	642										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGCTTTTTTCAAACAGATTT	0.348000													24	76					0	0	0.008361	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080855	9080855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:9080855C>G	ENST00000457346.2	-	9	1159	c.1085G>C	c.(1084-1086)tGc>tCc	p.C362S	SCUBE2_ENST00000520467.1_Missense_Mutation_p.C362S|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C362S|SCUBE2_ENST00000309263.3_Missense_Mutation_p.C362S|RP11-467K18.2_ENST00000521394.2_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	362	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATACCTTGGCAAGACTTCTC	0.483000													8	38					0	0	0.003080	0	0
ITGB4	3691	broad.mit.edu	37	17	73749930	73749930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:73749930C>T	ENST00000200181.3	+	33	4380	c.4193C>T	c.(4192-4194)cCg>cTg	p.P1398L	ITGB4_ENST00000450894.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000339591.3_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1398					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATCCCGCGCCTGTCG	0.776000													7	7					0	0	0.001984	0	0
FKBP14	55033	broad.mit.edu	37	7	30066006	30066006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:30066006C>T	ENST00000222803.5	-	1	294	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TTTGGTCTTGCGATGGCAGAT	0.468000													6	206					0	0	0.001168	0	0
TAF1	6872	broad.mit.edu	37	X	70618519	70618519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:70618519G>C	ENST00000449580.1	+	24	3766	c.3715G>C	c.(3715-3717)Gaa>Caa	p.E1239Q	TAF1_ENST00000373790.4_Missense_Mutation_p.E1239Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E1260Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1260Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1239					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAACCAGGAAAAGGAGAA	0.458000													19	2					0	0	0.008871	0	0
GULP1	51454	broad.mit.edu	37	2	189434754	189434754	+	Splice_Site	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:189434754G>T	ENST00000409580.1	+	10	1230		c.e10-1		GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409830.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTCTTTTTAGATCCAAGACT	0.279000													6	22					3.59834e-05	9.84251e-05	0.001168	1	0
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348000													15	67					0	0	0.003163	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762651	48762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chrX:48762651C>T	ENST00000376521.1	-	4	856	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	SLC35A2_ENST00000413561.2_Missense_Mutation_p.V118I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V207I|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V179I	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	179					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACAATGGCGACGCCAGTGAAG	0.657000													7	4					0	0	0.001984	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450885	117450885	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr7:117450885G>A	ENST00000160373.3	-	3	439	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGCAGTGGGCCATGACTG	0.507000													47	217					0	0	0.003610	0	0
NICN1	84276	broad.mit.edu	37	3	49466588	49466588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:49466588C>T	ENST00000273598.3	-	1	171	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.G29S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	29						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGCACGCCAGGCCGGCCT	0.682000													10	18					0	0	0.006214	0	0
RNF8	9025	broad.mit.edu	37	6	37344797	37344797	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:37344797A>G	ENST00000373479.4	+	6	1417	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E	RNF8_ENST00000469731.1_Silent_p.E408E	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	408					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGTTCAGAATACTTCATTG	0.368000													7	9					0	0	0.003080	0	0
GRTP1	79774	broad.mit.edu	37	13	114009696	114009696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr13:114009696G>C	ENST00000375430.4	-	3	328	c.282C>G	c.(280-282)taC>taG	p.Y94*	GRTP1_ENST00000375431.4_Nonsense_Mutation_p.Y94*|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000326039.3_Nonsense_Mutation_p.Y16*			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCTGGTGGTAGTAGCCGGGAT	0.672000													42	6					0	0	0.007835	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373011	81373011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:81373011A>G	ENST00000398636.3	+	5	497	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	SFTPA1_ENST00000419470.2_Missense_Mutation_p.Q135R|SFTPA1_ENST00000428376.2_Missense_Mutation_p.Q120R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.Q61R|SFTPA1_ENST00000372308.3_Missense_Mutation_p.Q120R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	120					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAAATCCTGCAGACAAGGGGA	0.547000													65	104					0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144942354	144942354	+	Missense_Mutation	SNP	T	T	C	rs113992087		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:144942354T>C	ENST00000525985.1	-	2	5139	c.5068A>G	c.(5068-5070)Atc>Gtc	p.I1690V				P58107	EPIPL_HUMAN	epiplakin 1	1690						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGATGCCGCCCGTG	0.677000													14	114					0	0	0.004007	0	0
DNAJA1	3301	broad.mit.edu	37	9	33034296	33034296	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:33034296G>T	ENST00000330899.4	+	6	909	c.726G>T	c.(724-726)gtG>gtT	p.V242V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Silent_p.V85V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	242					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTATCATTGTGTTAGATCAGA	0.368000													13	26					5.50884e-06	1.54314e-05	0.001368	1	0
NUP210L	91181	broad.mit.edu	37	1	154062033	154062033	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154062033A>C	ENST00000368559.3	-	16	2296	c.2225T>G	c.(2224-2226)cTg>cGg	p.L742R	NUP210L_ENST00000271854.3_Missense_Mutation_p.L742R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	742						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTAGGGTTCAGGACACCTGG	0.473000													15	78					0	0	0.004007	0	0
SAP130	79595	broad.mit.edu	37	2	128712891	128712891	+	Silent	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:128712891C>A	ENST00000357702.5	-	16	2300	c.2169G>T	c.(2167-2169)gtG>gtT	p.V723V	SAP130_ENST00000259234.6_Silent_p.V696V|SAP130_ENST00000259235.3_Silent_p.V688V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	688	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCCATAGACACGTGGATTT	0.463000													16	52					3.45872e-05	9.51659e-05	0.004007	1	0
PDHA2	5161	broad.mit.edu	37	4	96761704	96761704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr4:96761704G>C	ENST00000295266.4	+	1	466	c.403G>C	c.(403-405)Gag>Cag	p.E135Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	135					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATTCTCGCAGAGCTGACGGG	0.512000													41	37					0	0	0.006999	0	0
TP53INP1	94241	broad.mit.edu	37	8	95944333	95944333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr8:95944333G>A	ENST00000448464.2	-	4	838	c.476C>T	c.(475-477)gCc>gTc	p.A159V	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000342697.4_Intron|TP53INP1_ENST00000378776.4_Intron	NM_001135733.1	NP_001129205.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	61					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCTTTTCCTGGCCCTACAAAT	0.363000													4	10					0	0	0.000248	0	0
PTPRT	11122	broad.mit.edu	37	20	40757407	40757407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:40757407G>A	ENST00000373198.3	-	20	3135	c.2900C>T	c.(2899-2901)gCc>gTc	p.A967V	PTPRT_ENST00000373187.1_Missense_Mutation_p.A945V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A935V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A948V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A935V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A954V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A944V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	945	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AATGTAGTTGGCATTGATGTA	0.542000													6	64					0	0	0.001984	0	0
TNKS2	80351	broad.mit.edu	37	10	93582061	93582061	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr10:93582061T>A	ENST00000371627.4	+	7	1116	c.737T>A	c.(736-738)gTa>gAa	p.V246E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	246					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGTGATCTGGTACCATTACAC	0.328000													46	43					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85623415	85623415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr12:85623415G>T	ENST00000393217.2	+	25	5004	c.4943G>T	c.(4942-4944)aGa>aTa	p.R1648I	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1648										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTAGTTCCAGAAATATGAAA	0.338000													9	49					1.58986e-06	4.50785e-06	0.008291	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32217677	32217677	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr20:32217677C>T	ENST00000346541.3	+	9	1749	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CBFA2T2_ENST00000359606.3_Silent_p.V414V|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Silent_p.V404V|CBFA2T2_ENST00000397800.1_Silent_p.V375V|CBFA2T2_ENST00000342704.5_Silent_p.V395V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	404						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGAGTTGGTCTCCAGGCAGC	0.507000													22	27					0	0	0.004656	0	0
CRABP1	1381	broad.mit.edu	37	15	78640277	78640277	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:78640277C>T	ENST00000299529.6	+	4	477	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	124					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	AGACGTTTGGCGCCGATGACG	0.478000													34	45					0	0	0.002836	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217479	26217479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:26217479G>A	ENST00000303910.2	+	1	315	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	93					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CAACGACGAGGAGCTAAATAA	0.592000													19	76					0	0	0.008871	0	0
PPFIA4	8497	broad.mit.edu	37	1	203036878	203036878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:203036878G>A	ENST00000367240.2	+	25	3570	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	PPFIA4_ENST00000447715.2_Missense_Mutation_p.E1014K|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E530K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E743K|PPFIA4_ENST00000295706.4_Missense_Mutation_p.E521K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E521K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	530					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGACCGGAAGGAGCTGGAGAA	0.582000													26	54					0	0	0.007291	0	0
ZNF648	127665	broad.mit.edu	37	1	182026706	182026706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:182026706G>A	ENST00000339948.3	-	2	647	c.440C>T	c.(439-441)gCg>gTg	p.A147V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ATCATCACCCGCAGGTAGTCG	0.562000													10	50					0	0	0.006214	0	0
CTC1	80169	broad.mit.edu	37	17	8131878	8131878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:8131878G>A	ENST00000315684.8	-	22	3464	c.3457C>T	c.(3457-3459)Cgt>Tgt	p.R1153C		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1153					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACAATAGGACGGAGGACAGAG	0.507000													57	234					0	0	0.003610	0	0
PARP15	165631	broad.mit.edu	37	3	122340298	122340298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:122340298G>T	ENST00000483793.1	+	6	733	c.693G>T	c.(691-693)caG>caT	p.Q231H	PARP15_ENST00000464300.2_Missense_Mutation_p.Q357H|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.Q123H|PARP15_ENST00000493645.1_Missense_Mutation_p.Q123H			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	400	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTGCACAGCCTCACAGAG	0.393000													38	22					1.8453e-21	5.72042e-21	0.002522	1	0
TTC19	54902	broad.mit.edu	37	17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:15902870C>G	ENST00000486880.2	+	1	89	c.71C>G	c.(70-72)tCa>tGa	p.S24*	TTC19_ENST00000261647.5_5'UTR|ZSWIM7_ENST00000486655.1_5'UTR|ZSWIM7_ENST00000472495.1_Silent_p.L13L|ZSWIM7_ENST00000399277.1_Silent_p.L13L|ZSWIM7_ENST00000399280.2_Intron			Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	0					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746000													3	12					0	0	0.004672	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984777	90984777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:90984777G>A	ENST00000268182.5	+	8	813	c.689G>A	c.(688-690)cGt>cAt	p.R230H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	230					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTATTGACCGTAGAATTCCA	0.353000													16	45					0	0	0.006122	0	0
TUBD1	51174	broad.mit.edu	37	17	57951959	57951959	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:57951959C>A	ENST00000325752.3	-	6	1152	c.875G>T	c.(874-876)tGg>tTg	p.W292L	TUBD1_ENST00000394239.3_Missense_Mutation_p.W292L|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.W76L|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.W292L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	292					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAGGCCAGCCCAAGTAAATGT	0.418000													7	244					0.00198382	0.00530158	0.001984	1	0
ZNF524	147807	broad.mit.edu	37	19	56114117	56114117	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:56114117C>T	ENST00000591046.1	+	1	873	c.639C>T	c.(637-639)ctC>ctT	p.L213L	ZNF524_ENST00000301073.3_Silent_p.L213L			Q96C55	ZN524_HUMAN	zinc finger protein 524	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAACACGCTCCGGCGCCATG	0.711000													18	9					0	0	0.008871	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					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	p.D29H(11)|p.D29N(2)|p.D29Y(2)		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)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	36					0	0	0.004482	0	0
LIX1L	128077	broad.mit.edu	37	1	145477381	145477381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:145477381G>A	ENST00000369308.3	+	1	297	c.223G>A	c.(223-225)Gca>Aca	p.A75T	RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	75										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCAGCCCGGCAGTGCTGCG	0.776000													3	4					0	0	0.004672	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358754	16358754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:16358754G>A	ENST00000375692.1	+	18	1941	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A605T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A562T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A605T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	605	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCCTCCAGGCTGAGCCTCC	0.652000													17	15					0	0	0.004990	0	0
TRPM3	80036	broad.mit.edu	37	9	73167793	73167793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:73167793C>T	ENST00000377110.2	-	23	3748	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K	TRPM3_ENST00000396285.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1041K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1196K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1028K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1018K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1031K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1169K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1041K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1031K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1173K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1194						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGTCGCTCTCGTGTTTCCTC	0.527000													66	170					0	0	0.003610	0	0
FLAD1	80308	broad.mit.edu	37	1	154961343	154961343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:154961343G>A	ENST00000368431.3	+	3	1658	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTATGGAGGAGGGGCATTA	0.562000													13	18					0	0	0.003163	0	0
HERC1	8925	broad.mit.edu	37	15	64067261	64067261	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr15:64067261G>C	ENST00000443617.2	-	2	649	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	188					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCGTTGCAAAGACTGAGACCA	0.418000													73	213					0	0	0.003610	0	0
CHST1	8534	broad.mit.edu	37	11	45671418	45671418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr11:45671418G>C	ENST00000308064.2	-	4	1726	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	352					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGCCGCCGAGTTTCGCACGG	0.672000													47	42					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr6:129475657T>A	ENST00000421865.2	+	8	1084	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294000													14	32					0	0	0.001855	0	0
SPOPL	339745	broad.mit.edu	37	2	139316665	139316665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:139316665G>T	ENST00000280098.4	+	6	933	c.554G>T	c.(553-555)cGt>cTt	p.R185L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCTGAGTGTCGTCTAGCAGAA	0.368000													29	55					1.2476e-16	3.79172e-16	0.006320	1	0
CFHR2	3080	broad.mit.edu	37	1	196928195	196928195	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:196928195T>G	ENST00000367415.4	+	5	912	c.798T>G	c.(796-798)agT>agG	p.S266R	CFHR2_ENST00000367421.3_Missense_Mutation_p.S266R	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	266	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TATATCCCAGTTGTGAAGAAA	0.303000													12	33					0	0	0.001368	0	0
PPP2R4	5524	broad.mit.edu	37	9	131897100	131897100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:131897100C>T	ENST00000337738.1	+	7	859	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PPP2R4_ENST00000357197.4_Missense_Mutation_p.L134F|PPP2R4_ENST00000355007.3_Missense_Mutation_p.L121F|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Missense_Mutation_p.L163F|PPP2R4_ENST00000452489.2_Missense_Mutation_p.L198F|PPP2R4_ENST00000348141.5_Missense_Mutation_p.L169F|PPP2R4_ENST00000358994.4_Missense_Mutation_p.L163F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	198					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGCTGCTTTCCTCTGCTGTCT	0.512000													55	14					0	0	0.003610	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917263	48917263	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr19:48917263C>T	ENST00000263269.3	+	4	1189	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCATGAACATCACGTGGGATA	0.587000													8	47					0	0	0.004482	0	0
ENGASE	64772	broad.mit.edu	37	17	77073809	77073809	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:77073809C>G	ENST00000579016.1	+	3	279	c.279C>G	c.(277-279)ctC>ctG	p.L93L	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	93						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGGAGCTCTTGGCGTGGA	0.547000													56	65					0	0	0.003610	0	0
C2orf16	84226	broad.mit.edu	37	2	27804296	27804296	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:27804296G>A	ENST00000408964.2	+	1	4908	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCCCCGAGAGGAGCTGTC	0.562000													32	71					0	0	0.008361	0	0
TTC33	23548	broad.mit.edu	37	5	40716573	40716573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr5:40716573G>A	ENST00000337702.4	-	5	615	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	155							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGATAGATGTGAAGGGCTACT	0.373000													20	73					0	0	0.001523	0	0
SCFD1	23256	broad.mit.edu	37	14	31139469	31139469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:31139469A>G	ENST00000458591.2	+	11	1090	c.863A>G	c.(862-864)cAt>cGt	p.H288R	SCFD1_ENST00000544052.2_Missense_Mutation_p.H221R|SCFD1_ENST00000396629.2_Missense_Mutation_p.H196R|SCFD1_ENST00000421551.3_Missense_Mutation_p.H229R|SCFD1_ENST00000541123.1_Missense_Mutation_p.H103R	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	288					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATTTCCATTTAAACAGG	0.338000													72	140					0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr14:70634091C>T	ENST00000381269.2	-	2	1802	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_ENST00000528359.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S350N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S350N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	350					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493000													17	66					0	0	0.004990	0	0
MROH7	374977	broad.mit.edu	37	1	55145695	55145695	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:55145695C>T	ENST00000414150.2	+	13	2636	c.2358C>T	c.(2356-2358)ctC>ctT	p.L786L	MROH7_ENST00000339553.5_Silent_p.L786L|MROH7_ENST00000454855.2_Silent_p.L304L|MROH7_ENST00000421030.2_Silent_p.L786L|MROH7_ENST00000409996.1_Silent_p.L354L|MROH7_ENST00000395690.2_Silent_p.L786L|MROH7_ENST00000545244.1_Silent_p.L354L					maestro heat-like repeat family member 7																		TGGCCCTGCTCATGTGCCCCC	0.647000													60	68					0	0	0.003610	0	0
TOP3A	7156	broad.mit.edu	37	17	18178288	18178288	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:18178288G>T	ENST00000321105.5	-	19	3048	c.2834C>A	c.(2833-2835)tCt>tAt	p.S945Y	TOP3A_ENST00000542570.1_Missense_Mutation_p.S850Y|TOP3A_ENST00000540524.1_Missense_Mutation_p.S475Y	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	945					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGGGCTCCAGAAGTCCCTGT	0.592000													26	56					4.7796e-09	1.15558e-08	0.004656	1	0
COL3A1	1281	broad.mit.edu	37	2	189867029	189867029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:189867029G>C	ENST00000304636.3	+	35	2567	c.2397G>C	c.(2395-2397)gaG>gaC	p.E799D	COL3A1_ENST00000317840.5_Missense_Mutation_p.E799D	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	799	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCAGGGTGAGAGAGGTGAAA	0.438000													9	31					0	0	0.004482	0	0
HAUS1	115106	broad.mit.edu	37	18	43698200	43698200	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr18:43698200C>A	ENST00000282058.6	+	3	339	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	87					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CCCCGCCAATCTCTCTAGCAC	0.418000													17	77					8.34094e-07	1.95475e-06	0.008871	1	0
RIN3	79890	broad.mit.edu	37	14	93118236	93118236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr14:93118236C>T	ENST00000216487.7	+	6	1001	c.842C>T	c.(841-843)cCa>cTa	p.P281L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	281	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGccgcccaccaccccctccc	0.711000													25	23					0	0	0.003954	0	0
PPEF2	5470	broad.mit.edu	37	4	76811247	76811247	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr4:76811247C>T	ENST00000286719.7	-	5	636	c.280G>A	c.(280-282)Gcc>Acc	p.A94T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	94					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGTCCTGGGCGAATCTGTCC	0.522000													35	38					0	0	0.003755	0	0
FIGN	55137	broad.mit.edu	37	2	164466892	164466892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:164466892C>G	ENST00000333129.3	-	3	1764	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	484						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCATTCCAGTCCACTGGAGGT	0.512000													11	89					0	0	0.001855	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799785	119799785	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:119799785A>G	ENST00000355624.3	-	2	1084	c.645T>C	c.(643-645)ttT>ttC	p.F215F	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.F215F	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	215					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACCCAAGAGAAAAGGCTTTT	0.433000													22	67					0	0	0.002299	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536273	130536273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:130536273C>T	ENST00000314830.8	-	2	624	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	171					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCTACCTTTCTGAGTGCACG	0.522000													31	12					0	0	0.008361	0	0
TG	7038	broad.mit.edu	37	8	133898695	133898695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:133898695G>T	ENST00000220616.4	+	9	1118	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	TG_ENST00000377869.1_Nonsense_Mutation_p.E360*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	360					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATGCAGCTGAAGGCCAATC	0.493000													50	98					3.86236e-30	1.00369e-29	0.003610	1	0
CCRN4L	25819	broad.mit.edu	37	4	139965958	139965958	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr4:139965958G>C	ENST00000280614.2	+	3	819	c.626G>C	c.(625-627)aGa>aCa	p.R209T	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	209					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTCCTCAGTAGACTAGGCTAT	0.458000													16	77					0	0	0.004990	0	0
CACNB1	782	broad.mit.edu	37	17	37343809	37343809	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:37343809G>T	ENST00000394303.3	-	4	544	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	CACNB1_ENST00000394310.3_Missense_Mutation_p.P113T|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.P113T	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	113	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCTGGAGACGGATTGTAGCCA	0.562000													53	71					2.17126e-26	5.60419e-26	0.003610	1	0
ZNF669	79862	broad.mit.edu	37	1	247264162	247264162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:247264162C>G	ENST00000343381.6	-	4	1081	c.909G>C	c.(907-909)gaG>gaC	p.E303D	ZNF669_ENST00000448299.2_Missense_Mutation_p.E217D|ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CGTAGGGTTTCTCTCCAGTGT	0.383000													7	49					0	0	0.001984	0	0
MYO5A	4644	broad.mit.edu	37	15	52697571	52697571	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:52697571T>A	ENST00000399231.3	-	9	1209	c.966A>T	c.(964-966)caA>caT	p.Q322H	MYO5A_ENST00000399233.2_Missense_Mutation_p.Q322H|MYO5A_ENST00000553916.1_Missense_Mutation_p.Q322H|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q322H|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q322H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	322	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAATTCCCATTTGATGAGATT	0.363000													8	21					0	0	0.003080	0	0
OR2T3	343173	broad.mit.edu	37	1	248637569	248637569	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:248637569G>A	ENST00000359594.2	+	1	943	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	306				L -> M (in Ref. 3; BAC05839).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCAGGGCTCTGAGGAGCATGA	0.478000													44	349					0	0	0.003610	0	0
EHD1	10938	broad.mit.edu	37	11	64622855	64622855	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:64622855T>C	ENST00000320631.3	-	4	1273	c.1019A>G	c.(1018-1020)cAg>cGg	p.Q340R	EHD1_ENST00000359393.2_Missense_Mutation_p.Q340R	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCAATCTTCTGGTAGATCTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	72					0	0	0.002780	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:42166142G>T	ENST00000320955.6	-	25	5018	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000													22	24					3.62473e-10	8.87595e-10	0.001882	1	0
GCK	2645	broad.mit.edu	37	7	44191894	44191894	+	Silent	SNP	G	G	A	rs149412035	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:44191894G>A	ENST00000403799.3	-	3	808	c.339C>T	c.(337-339)gaC>gaT	p.D113D	GCK_ENST00000437084.1_Silent_p.D113D|GCK_ENST00000345378.2_Silent_p.D114D|GCK_ENST00000395796.3_Silent_p.D112D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	113					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.D114D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGTCATGGCGTCCTCGGGGA	0.632000													98	84					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158595954	158595954	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:158595954G>T	ENST00000368148.3	-	42	6072	c.5892C>A	c.(5890-5892)ctC>ctA	p.L1964L	SPTA1_ENST00000368147.3_Silent_p.L1961L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1964					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGAAGAGTGAGGAAGTCAC	0.393000													4	27					1.23904e-05	2.83421e-05	0.000602	1	0
HBS1L	10767	broad.mit.edu	37	6	135371740	135371740	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:135371740T>C	ENST00000367837.5	-	2	295	c.89A>G	c.(88-90)tAt>tGt	p.Y30C	HBS1L_ENST00000367824.4_5'UTR|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000415177.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367820.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000367822.5_Missense_Mutation_p.Y30C|HBS1L_ENST00000367826.2_Missense_Mutation_p.Y30C|HBS1L_ENST00000445176.2_5'UTR|HBS1L_ENST00000314674.3_Missense_Mutation_p.Y30C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	30					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CGAAATACAATAATCATCCTC	0.299000													10	8					0	0	0.000978	0	0
PZP	5858	broad.mit.edu	37	12	9307283	9307283	+	Missense_Mutation	SNP	T	T	A	rs140597579	byFrequency	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:9307283T>A	ENST00000261336.2	-	29	3731	c.3703A>T	c.(3703-3705)Acc>Tcc	p.T1235S	PZP_ENST00000381997.2_Missense_Mutation_p.T1021S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTTGCAGAGGTCAGGTCCCCT	0.557000													24	38					0	0	0.003954	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519867	113519867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:113519867A>G	ENST00000284601.3	-	4	1348	c.1280T>C	c.(1279-1281)cTa>cCa	p.L427P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	427					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATTGCACTAGTTCATCACT	0.428000													85	62					0	0	0.003610	0	0
ZNF530	348327	broad.mit.edu	37	19	58118331	58118331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:58118331C>T	ENST00000332854.6	+	3	1658	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACCTCATTCGACACCAGAC	0.433000													29	28					0	0	0.007291	0	0
PTH1R	5745	broad.mit.edu	37	3	46937299	46937299	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:46937299G>T	ENST00000313049.5	+	3	456	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.G85W|PTH1R_ENST00000418619.1_Missense_Mutation_p.G85W|PTH1R_ENST00000430002.2_Missense_Mutation_p.G85W			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	85						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TAAGGCATCTGGGAAGCTCTA	0.552000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					2.17888e-05	4.95435e-05	0.006214	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75556724	75556724	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:75556724G>T	ENST00000604729.1	+	16	3523	c.3226G>T	c.(3226-3228)Ggg>Tgg	p.G1076W	NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1071W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1038W|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1071W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1076W					zinc finger, SWIM-type containing 8																		GAGTGTGGCAGGGGCTGGGCC	0.647000													11	37					0.000673444	0.00150442	0.008291	1	0
CREBBP	1387	broad.mit.edu	37	16	3778359	3778359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr16:3778359T>A	ENST00000262367.5	-	31	7498	c.6689A>T	c.(6688-6690)cAg>cTg	p.Q2230L	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q2192L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2230					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTGGAACTGGCCGTGCCC	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						9	9					0	0	0.004482	0	0
FAM208A	23272	broad.mit.edu	37	3	56675420	56675420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:56675420G>C	ENST00000431842.2	-	8	2312	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	FAM208A_ENST00000355628.5_Missense_Mutation_p.S859C|FAM208A_ENST00000493960.2_Missense_Mutation_p.S859C	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	859										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTCGCTGGTAGAAATAGCAAC	0.403000													5	18					0	0	0.000602	0	0
GAB2	9846	broad.mit.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562000													10	43					0	0	0.006214	0	0
EPHB4	2050	broad.mit.edu	37	7	100420076	100420076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:100420076C>T	ENST00000358173.3	-	4	1093	c.625G>A	c.(625-627)Gag>Aag	p.E209K	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.E209K	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	209	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCACAGTCTCCGGGAATCGA	0.657000													11	31					0	0	0.008291	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963135	88963135	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:88963135A>C	ENST00000333190.4	+	4	1448	c.839A>C	c.(838-840)gAg>gCg	p.E280A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	280						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGGAAAAAGAGGTAAATATC	0.358000										HNSCC(36;0.09)			11	39					0	0	0.000978	0	0
P2RY2	5029	broad.mit.edu	37	11	72945507	72945507	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:72945507C>T	ENST00000311131.2	+	3	770	c.303C>T	c.(301-303)ttC>ttT	p.F101F	P2RY2_ENST00000393596.2_Silent_p.F101F|P2RY2_ENST00000393597.2_Silent_p.F101F	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	101					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	ACTGGCCCTTCAGCACGGTGC	0.597000													21	96					0	0	0.008871	0	0
MGAT4B	11282	broad.mit.edu	37	5	179226007	179226007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr5:179226007C>T	ENST00000337755.5	-	10	2195	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MGAT4B_ENST00000292591.7_Missense_Mutation_p.E422K	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	422					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAAGTCCTCGCGCAGGTAG	0.607000													54	76					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:7578217G>A	ENST00000420246.2	-	6	764	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.T211I|TP53_ENST00000359597.4_Missense_Mutation_p.T211I|TP53_ENST00000455263.2_Missense_Mutation_p.T211I|TP53_ENST00000413465.2_Missense_Mutation_p.T211I|TP53_ENST00000269305.4_Missense_Mutation_p.T211I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.T211I(7)|p.?(5)|p.T211N(4)|p.R209fs*35(2)|p.T211fs*4(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.T211S(1)|p.R209fs*6(1)|p.T211fs*5(1)|p.D208_V216delDRNTFRHSV(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)		ATGTCGAAAAGTGTTTCTGTC	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	22					0	0	0.001855	0	0
DHH	50846	broad.mit.edu	37	12	49488008	49488008	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:49488008G>A	ENST00000266991.2	-	1	594	c.288C>T	c.(286-288)gaC>gaT	p.D96D		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	96					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						TCATCAGGCGGTCGGCTCCAC	0.642000													20	40					0	0	0.001882	0	0
PTAR1	375743	broad.mit.edu	37	9	72338400	72338400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:72338400C>G	ENST00000377200.5	-	4	554	c.552G>C	c.(550-552)ttG>ttC	p.L184F	PTAR1_ENST00000340434.4_Missense_Mutation_p.L263F			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	263					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GCTCACTTCTCAAAGGATTTT	0.423000													19	53					0	0	0.006122	0	0
DMBT1	1755	broad.mit.edu	37	10	124348656	124348656	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:124348656C>T	ENST00000368909.3	+	17	2086	c.1980C>T	c.(1978-1980)ggC>ggT	p.G660G	DMBT1_ENST00000368955.3_Silent_p.G650G|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Silent_p.G660G|DMBT1_ENST00000344338.3_Silent_p.G650G|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	660	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGTCAGGGCTCAGGACCCA	0.602000													58	158					0	0	0.003610	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686819	27686819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:27686819G>A	ENST00000374040.3	-	15	2331	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C	MAP3K6_ENST00000493901.1_Missense_Mutation_p.R699C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R699C			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	699	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGCAGGCGTCTGTGAAGA	0.592000													9	40					0	0	0.008291	0	0
TKTL2	84076	broad.mit.edu	37	4	164394488	164394488	+	Silent	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr4:164394488T>A	ENST00000280605.3	-	1	559	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	133						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATTCCACATGCAGTACCTA	0.547000													20	65					0	0	0.002299	0	0
HSH2D	84941	broad.mit.edu	37	19	16268177	16268177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:16268177C>T	ENST00000593154.2	+	8	1163	c.632C>T	c.(631-633)cCc>cTc	p.P211L	HSH2D_ENST00000397372.4_Missense_Mutation_p.P122L|HSH2D_ENST00000253680.6_Missense_Mutation_p.P211L|HSH2D_ENST00000588246.1_Missense_Mutation_p.P211L	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	211						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AAAATGCTCCCCGAGAGAGGC	0.562000													19	34					0	0	0.008871	0	0
MGA	23269	broad.mit.edu	37	15	42054540	42054540	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:42054540G>C	ENST00000219905.7	+	22	7905	c.7724G>C	c.(7723-7725)aGa>aCa	p.R2575T	MGA_ENST00000389936.4_Missense_Mutation_p.R2536T|MGA_ENST00000545763.1_Missense_Mutation_p.R2366T|MGA_ENST00000566586.1_Missense_Mutation_p.R2366T|MGA_ENST00000570161.1_Missense_Mutation_p.R2575T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2536						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)		ATTCTTTCCAGAAAAAAAGAC	0.423000													9	62					0	0	0.000978	0	0
WDR92	116143	broad.mit.edu	37	2	68365916	68365916	+	Silent	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:68365916G>C	ENST00000295121.6	-	5	707	c.591C>G	c.(589-591)ctC>ctG	p.L197L	WDR92_ENST00000409164.1_Silent_p.L197L|WDR92_ENST00000406245.2_Silent_p.L96L|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	197					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CCATATTTCTGAGATCAAATA	0.383000													32	114					0	0	0.002445	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985505	140985505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chrX:140985505G>T	ENST00000298296.1	+	8	1819	c.1819G>T	c.(1819-1821)Gct>Tct	p.A607S	MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	607	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTACATGGATGCTTTGAAAGA	0.488000													46	15					8.01111e-26	2.05385e-25	0.002522	1	0
INTS1	26173	broad.mit.edu	37	7	1526591	1526591	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:1526591G>A	ENST00000389470.4	-	22	3221	c.3222C>T	c.(3220-3222)ggC>ggT	p.G1074G	INTS1_ENST00000404767.3_Silent_p.G931G			Q8N201	INT1_HUMAN	integrator complex subunit 1	931					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTTGCTCTCGCCCTCGTCGT	0.692000													5	20					0	0	0.001168	0	0
TYR	7299	broad.mit.edu	37	11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:89018057G>C	ENST00000263321.5	+	4	1803	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	434			R -> I (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTGTACAGAAATGGTGAT	0.403000													17	44					0	0	0.004007	0	0
MON2	23041	broad.mit.edu	37	12	62954421	62954421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:62954421C>T	ENST00000393630.3	+	27	3954	c.3563C>T	c.(3562-3564)aCa>aTa	p.T1188I	MON2_ENST00000393632.2_Missense_Mutation_p.T1187I|MON2_ENST00000552738.1_Missense_Mutation_p.T1164I|MON2_ENST00000546600.1_Missense_Mutation_p.T1187I|MON2_ENST00000280379.6_Missense_Mutation_p.T1188I|MON2_ENST00000393629.2_Missense_Mutation_p.T1187I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1188					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AAGCCTGAGACACCACCTGTA	0.443000													15	32					0	0	0.004007	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088343	43088343	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:43088343T>C	ENST00000359467.3	-	5	2169	c.2055A>G	c.(2053-2055)agA>agG	p.R685R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	685						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CCGTGTGCTTTCTCTCATGTA	0.403000													26	62					0	0	0.003330	0	0
ALG2	85365	broad.mit.edu	37	9	101980370	101980370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:101980370G>A	ENST00000476832.1	-	2	1158	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	ALG2_ENST00000319033.6_Missense_Mutation_p.P273L	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	366					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.P366Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGCACCGGGTCAGGCTC	0.502000													26	59					0	0	0.003954	0	0
ATIC	471	broad.mit.edu	37	2	216191665	216191665	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:216191665C>A	ENST00000435675.1	+	6	1040	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	ATIC_ENST00000236959.9_Missense_Mutation_p.Q218K|ATIC_ENST00000540518.1_Missense_Mutation_p.Q159K			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	218					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GACCCCTGCCCAGCTGTACAC	0.483000			T	ALK	ALCL								26	79					7.92952e-12	1.95424e-11	0.003954	1	0
ZBTB8OS	339487	broad.mit.edu	37	1	33116074	33116074	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:33116074C>T	ENST00000468695.1	-	1	111	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ZBTB8OS_ENST00000492007.1_5'UTR|ZBTB8OS_ENST00000373501.2_Silent_p.A19A|ZBTB8OS_ENST00000341885.5_Silent_p.A31A	NM_178547.2	NP_848642.1	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite strand	19										endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCTTGATCGCCTTCTGTT	0.483000													39	74					0	0	0.004878	0	0
TICRR	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:90119305C>T	ENST00000268138.7	+	1	593	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S163L					TOPBP1-interacting checkpoint and replication regulator																		TGTCCGCACTCGCAGAGGGAG	0.682000													9	8					0	0	0.004482	0	0
CPSF1	29894	broad.mit.edu	37	8	145624248	145624248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:145624248C>T	ENST00000349769.3	-	17	1653	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	520					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCTGGGGCCGGATGCTCTT	0.642000													97	85					0	0	0.003610	0	0
OTOL1	131149	broad.mit.edu	37	3	161221279	161221279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:161221279G>A	ENST00000327928.4	+	4	983	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	328	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAGGGCTCTCGGGGCTTTAAA	0.572000													4	27					0	0	0.000602	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800310	74800310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:74800310G>A	ENST00000305159.3	-	1	489	c.449C>T	c.(448-450)gCa>gTa	p.A150V		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGCACTGGCTGCCAAGGTAGC	0.557000													47	57					0	0	0.003610	0	0
DDX39A	10212	broad.mit.edu	37	19	14520565	14520565	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:14520565C>G	ENST00000242776.4	-	7	954	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	285	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGGTTAAACTCCAGCACATCC	0.562000													19	41					0	0	0.007413	0	0
MYBPC1	4604	broad.mit.edu	37	12	102030483	102030483	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:102030483C>T	ENST00000549145.1	+	9	706	c.606C>T	c.(604-606)gaC>gaT	p.D202D	MYBPC1_ENST00000360610.2_Silent_p.D189D|MYBPC1_ENST00000361685.2_Silent_p.D214D|MYBPC1_ENST00000361466.2_Silent_p.D214D|MYBPC1_ENST00000547405.1_Silent_p.D163D|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Silent_p.D177D|MYBPC1_ENST00000550270.1_Silent_p.D189D|MYBPC1_ENST00000545503.2_Silent_p.D189D|MYBPC1_ENST00000547509.1_Silent_p.D175D|MYBPC1_ENST00000551300.1_Silent_p.D90D|MYBPC1_ENST00000392934.3_Silent_p.D176D|MYBPC1_ENST00000452455.2_Silent_p.D189D|MYBPC1_ENST00000441232.1_Silent_p.D189D|MYBPC1_ENST00000553190.1_Silent_p.D189D|MYBPC1_ENST00000536007.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	189					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGAACTTGACTTTAGTGGTC	0.428000													7	21					0	0	0.001984	0	0
KRT27	342574	broad.mit.edu	37	17	38933792	38933792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:38933792A>T	ENST00000301656.3	-	6	1205	c.1165T>A	c.(1165-1167)Tgc>Agc	p.C389S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	389	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ATCAGGAGGCAGTAGGTCTCA	0.443000													23	105					0	0	0.002780	0	0
NME9	347736	broad.mit.edu	37	3	138023770	138023770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:138023770G>A	ENST00000383180.2	-	10	790	c.553C>T	c.(553-555)Cga>Tga	p.R185*	NME9_ENST00000333911.3_Nonsense_Mutation_p.R246*|NME9_ENST00000536478.1_Nonsense_Mutation_p.R185*|NME9_ENST00000484930.1_Nonsense_Mutation_p.R183*|NME9_ENST00000341790.5_Nonsense_Mutation_p.R183*|NME9_ENST00000317876.4_Nonsense_Mutation_p.R185*	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	246	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATGACGGTTCGCCAGGTAGTG	0.572000													30	170					0	0	0.007291	0	0
SP7	121340	broad.mit.edu	37	12	53722831	53722831	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:53722831G>T	ENST00000536324.2	-	3	678	c.395C>A	c.(394-396)aCa>aAa	p.T132K	SP7_ENST00000303846.3_Missense_Mutation_p.T132K|SP7_ENST00000537210.2_Missense_Mutation_p.T114K	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATAGGGGTGTGTCATGTCCAG	0.602000													16	40					2.23348e-06	5.17085e-06	0.004007	1	0
CEP170B	283638	broad.mit.edu	37	14	105355876	105355876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr14:105355876C>T	ENST00000453495.1	+	13	3995	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	CEP170B_ENST00000556508.1_Missense_Mutation_p.S1185L|CEP170B_ENST00000418279.1_Intron|CEP170B_ENST00000414716.3_Intron					centrosomal protein 170B																		CAGCAGGGCTCGGATTACACG	0.607000													4	17					0	0	0.000248	0	0
ZP4	57829	broad.mit.edu	37	1	238048742	238048742	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:238048742G>A	ENST00000366570.4	-	8	1267	c.1109C>T	c.(1108-1110)aCa>aTa	p.T370I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	370	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTGCTGGGTGTTGCCCAACA	0.537000													17	56					0	0	0.006122	0	0
TMEM116	89894	broad.mit.edu	37	12	112369498	112369498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:112369498C>G	ENST00000354825.3	-	13	1320	c.665G>C	c.(664-666)aGa>aCa	p.R222T	TMEM116_ENST00000550831.3_Missense_Mutation_p.R222T|TMEM116_ENST00000355445.3_Missense_Mutation_p.R279T|TMEM116_ENST00000437003.2_Missense_Mutation_p.R222T|TMEM116_ENST00000549537.2_Missense_Mutation_p.R128T|TMEM116_ENST00000552374.2_Missense_Mutation_p.R314T			Q8NCL8	TM116_HUMAN	transmembrane protein 116	222						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GCTATAGAATCTCTTCTGTGA	0.453000													22	64					0	0	0.002299	0	0
HSPA12B	116835	broad.mit.edu	37	20	3726199	3726199	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr20:3726199G>A	ENST00000254963.2	+	6	658	c.513G>A	c.(511-513)gaG>gaA	p.E171E	HSPA12B_ENST00000542646.1_Silent_p.E5E	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	171							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGCCCTGGAGGTGTTCGCCC	0.637000													12	51					0	0	0.001855	0	0
ACOT12	134526	broad.mit.edu	37	5	80667608	80667608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr5:80667608G>C	ENST00000307624.3	-	3	247	c.219C>G	c.(217-219)atC>atG	p.I73M	ACOT12_ENST00000513751.1_Missense_Mutation_p.I73M	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	73	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTTTTGCTTTGATGGTTATAA	0.363000													18	44					0	0	0.007413	0	0
ZNF644	84146	broad.mit.edu	37	1	91406595	91406595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:91406595C>T	ENST00000370440.1	-	3	533	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	ZNF644_ENST00000337393.5_Missense_Mutation_p.E106K|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATAAAGTTTTCACTAGAAACA	0.408000													10	45					0	0	0.006214	0	0
ZNF479	90827	broad.mit.edu	37	7	57188597	57188597	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:57188597A>G	ENST00000331162.4	-	5	795	c.525T>C	c.(523-525)gaT>gaC	p.D175D		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATCTTGTTTTATCTCTATTGG	0.279000													18	40					0	0	0.004990	0	0
PPP6R3	55291	broad.mit.edu	37	11	68318642	68318642	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:68318642G>T	ENST00000393799.2	+	6	873	c.606G>T	c.(604-606)tcG>tcT	p.S202S	PPP6R3_ENST00000393801.3_Silent_p.S202S|PPP6R3_ENST00000527403.2_Silent_p.S202S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Silent_p.S202S|PPP6R3_ENST00000265636.5_Silent_p.S202S|PPP6R3_ENST00000393800.2_Silent_p.S202S|PPP6R3_ENST00000529710.1_Silent_p.S202S|PPP6R3_ENST00000524904.1_Silent_p.S202S|PPP6R3_ENST00000524845.1_Silent_p.S202S			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	202					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCATCCATCGCAAGAAGAAG	0.333000													15	50					7.93312e-07	1.87065e-06	0.002450	1	0
ZNF248	57209	broad.mit.edu	37	10	38120569	38120569	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:38120569T>C	ENST00000395867.3	-	6	2264	c.1714A>G	c.(1714-1716)Agg>Ggg	p.R572G	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.R572G|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCTTTCACCCTTGTGTGAATT	0.423000													10	38					0	0	0.006214	0	0
HERC1	8925	broad.mit.edu	37	15	64067261	64067261	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:64067261G>C	ENST00000443617.2	-	2	649	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	188					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCGTTGCAAAGACTGAGACCA	0.418000													73	213					0	0	0.003610	0	0
TIGD5	84948	broad.mit.edu	37	8	144681367	144681367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:144681367G>A	ENST00000321385.3	+	1	1294	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	TIGD5_ENST00000504548.2_Missense_Mutation_p.E432K			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	432					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTACAAGCGCGAGCTGCTGCG	0.647000													10	28					0	0	0.008291	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351103	89351103	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr16:89351103T>G	ENST00000301030.4	-	9	2307	c.1847A>C	c.(1846-1848)gAg>gCg	p.E616A	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E616A	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	616						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GACAGCGCCCTCCGCGCTGGA	0.537000													10	41					0	0	0.006214	0	0
MEOX2	4223	broad.mit.edu	37	7	15725704	15725704	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:15725704G>T	ENST00000262041.5	-	1	733	c.324C>A	c.(322-324)ctC>ctA	p.L108L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	108					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCTGGAGGCAGAGGCTGTGCC	0.667000													10	3					4.68919e-08	1.11954e-07	0.008291	1	0
DMXL2	23312	broad.mit.edu	37	15	51773152	51773152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:51773152G>T	ENST00000251076.5	-	24	6438	c.6151C>A	c.(6151-6153)Ctt>Att	p.L2051I	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2051I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L1415I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2051						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCAGTCATAAGGATCTTTAAA	0.363000													5	108					0.00116845	0.00259504	0.001168	1	0
KNTC1	9735	broad.mit.edu	37	12	123019279	123019279	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:123019279A>G	ENST00000333479.7	+	3	375	c.198A>G	c.(196-198)tcA>tcG	p.S66S	KNTC1_ENST00000450485.2_Silent_p.S66S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	66					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCGACCAATCAGTGATATTGC	0.353000													3	21					0	0	0.000248	0	0
MUC5B	727897	broad.mit.edu	37	11	1263375	1263375	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:1263375C>T	ENST00000447027.1	+	31	5332	c.5274C>T	c.(5272-5274)acC>acT	p.T1758T	MUC5B_ENST00000529681.1_Silent_p.T1755T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1755	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTGTCCACCTCTCAGGCCG	0.642000													9	23					0	0	0.004482	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452858	35452858	+	Silent	SNP	T	T	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:35452858T>C	ENST00000357182.4	-	16	4052	c.3825A>G	c.(3823-3825)ttA>ttG	p.L1275L	ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1275					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAAGGGTAATAAAAATTTCA	0.368000													11	40					0	0	0.000978	0	0
MAPK15	225689	broad.mit.edu	37	8	144801638	144801638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:144801638C>T	ENST00000338033.4	+	7	826	c.707C>T	c.(706-708)cCg>cTg	p.P236L	MAPK15_ENST00000395108.2_Missense_Mutation_p.P236L|MAPK15_ENST00000395107.4_Missense_Mutation_p.P253L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACCATCCCACCGCCATCTGAG	0.657000													26	28					0	0	0.003954	0	0
C2orf16	84226	broad.mit.edu	37	2	27804510	27804510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:27804510G>T	ENST00000408964.2	+	1	5122	c.5071G>T	c.(5071-5073)Gag>Tag	p.E1691*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1691	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCTGAGAGAAGACA	0.577000													41	140					2.05212e-20	5.1573e-20	0.005524	1	0
ELMO1	9844	broad.mit.edu	37	7	36895309	36895309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:36895309C>T	ENST00000310758.4	-	22	2678	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ELMO1_ENST00000396045.3_Missense_Mutation_p.M197I|ELMO1_ENST00000341056.3_Missense_Mutation_p.M379I|ELMO1_ENST00000448602.1_Missense_Mutation_p.M677I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M677I|ELMO1_ENST00000396040.2_Missense_Mutation_p.M197I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	677					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTCGCTCATCATGTCCTTCC	0.542000													38	150					0	0	0.003214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761451	92761451	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:92761451C>T	ENST00000318238.4	-	5	5050	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	SAMD9L_ENST00000411955.1_Silent_p.L1278L|SAMD9L_ENST00000437805.1_Silent_p.L1278L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1278										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCATTTTCAGAAGAACCA	0.328000													16	61					0	0	0.004007	0	0
EPHA7	2045	broad.mit.edu	37	6	94120657	94120657	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:94120657A>T	ENST00000369303.4	-	3	578	c.394T>A	c.(394-396)Tat>Aat	p.Y132N	EPHA7_ENST00000369297.1_Missense_Mutation_p.Y132N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAGTGTCATAGTCTGTTTCA	0.368000													33	46					0	0	0.002445	0	0
ZNF347	84671	broad.mit.edu	37	19	53644215	53644215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:53644215C>A	ENST00000452676.2	-	5	2295	c.1869G>T	c.(1867-1869)gaG>gaT	p.E623D	ZNF347_ENST00000334197.7_Missense_Mutation_p.E622D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E623D	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTTTCTCTCCAGTAT	0.368000													40	43					2.19962e-31	5.75518e-31	0.008740	1	0
TMOD2	29767	broad.mit.edu	37	15	52058689	52058689	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:52058689A>T	ENST00000249700.4	+	2	272	c.51A>T	c.(49-51)gaA>gaT	p.E17D	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E17D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	17					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACATTGATGAAGATGAGCTTC	0.423000													20	26					0	0	0.008871	0	0
HMCN1	83872	broad.mit.edu	37	1	186057074	186057074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:186057074C>G	ENST00000271588.4	+	61	9603	c.9374C>G	c.(9373-9375)aCa>aGa	p.T3125R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3125R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3125	Ig-like C2-type 29.				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						GTATCTGACACAGGCCAGTAT	0.348000													6	52					0	0	0.001984	0	0
DHFR	1719	broad.mit.edu	37	5	79929781	79929781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr5:79929781G>T	ENST00000439211.2	-	5	893	c.400C>A	c.(400-402)Cta>Ata	p.L134I	DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.L134I|DHFR_ENST00000504396.1_Missense_Mutation_p.L82I|DHFR_ENST00000511032.1_Intron	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	134	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	GTCACAAATAGTTTAAGATGG	0.328000													13	32					1.99824e-07	4.74116e-07	0.004990	1	0
OR8I2	120586	broad.mit.edu	37	11	55861217	55861217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:55861217G>C	ENST00000302124.2	+	1	465	c.434G>C	c.(433-435)gGa>gCa	p.G145A	OR8I2_ENST00000560768.1_Missense_Mutation_p.G145A			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACTGGCTGGGAGTAATGCCA	0.433000													45	52					0	0	0.002852	0	0
NAV1	89796	broad.mit.edu	37	1	201759817	201759817	+	Splice_Site	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:201759817C>A	ENST00000367296.4	+	13	3664	c.3243_splice	c.e13-1	p.Q1082_splice	NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Splice_Site_p.Q1025_splice|NAV1_ENST00000295624.6_Splice_Site_p.Q1082_splice|NAV1_ENST00000367302.1_Splice_Site_p.Q1038_splice|NAV1_ENST00000367297.4_Splice_Site_p.Q1074_splice|NAV1_ENST00000367295.1_Splice_Site_p.Q691_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1082					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTTTTACAGCAAATCCGGAA	0.448000													18	89					1.67942e-08	4.03482e-08	0.006122	1	0
PLEK	5341	broad.mit.edu	37	2	68615548	68615548	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:68615548T>G	ENST00000234313.7	+	6	866	c.687T>G	c.(685-687)aaT>aaG	p.N229K		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	229					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GTGAAGAGAATTCCAGTGATG	0.453000													42	42					0	0	0.002522	0	0
TBC1D32	221322	broad.mit.edu	37	6	121563420	121563420	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:121563420A>T	ENST00000275159.6	-	18	2083	c.2084T>A	c.(2083-2085)cTa>cAa	p.L695Q	TBC1D32_ENST00000398212.2_Missense_Mutation_p.L695Q					TBC1 domain family, member 32																		TTGAAGAAGTAGTAATCCTTT	0.343000													16	49					0	0	0.004007	0	0
MYH9	4627	broad.mit.edu	37	22	36712573	36712573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr22:36712573C>T	ENST00000216181.5	-	12	1599	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	457	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.E457K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCAAAGATCTCGAAGCCGGCA	0.572000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				34	86					0	0	0.004289	0	0
PTPN12	5782	broad.mit.edu	37	7	77256506	77256506	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:77256506A>G	ENST00000248594.6	+	13	1782	c.1510A>G	c.(1510-1512)Aac>Gac	p.N504D	PTPN12_ENST00000435495.2_Missense_Mutation_p.N374D|PTPN12_ENST00000415482.2_Missense_Mutation_p.N385D	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	504						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACACAATCAAACAAAGTTTC	0.428000													8	52					0	0	0.004482	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903702	111903702	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:111903702C>T	ENST00000374581.3	-	4	782	c.783G>A	c.(781-783)gtG>gtA	p.V261V		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	261	DOMON.					integral to membrane											TGGGAACATTCACAGGGCGTT	0.448000													61	24					0	0	0.003610	0	0
SLC35D1	23169	broad.mit.edu	37	1	67516168	67516168	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:67516168G>A	ENST00000235345.5	-	5	497	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	SLC35D1_ENST00000506472.2_Silent_p.L59L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	138					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	AACCTTCTCAGAACTGTAAAC	0.294000													10	24					0	0	0.001855	0	0
RYR1	6261	broad.mit.edu	37	19	38943488	38943488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:38943488G>A	ENST00000355481.4	+	13	1405	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R425Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R425Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGAAGCCACGGGGCTCGGGG	0.662000													5	15					0	0	0.001984	0	0
ADAM17	6868	broad.mit.edu	37	2	9661434	9661434	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:9661434G>A	ENST00000310823.3	-	8	1037	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	285	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.L285L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTGGAGACTTGAGAATGCGAA	0.358000													19	65					0	0	0.001523	0	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:7577129A>C	ENST00000420246.2	-	8	941	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000445888.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.F270C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	15					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	145012852	145012852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:145012852C>T	ENST00000322810.4	-	2	701	c.532G>A	c.(532-534)Gat>Aat	p.D178N	PLEC_ENST00000354589.3_Missense_Mutation_p.D41N|PLEC_ENST00000354958.2_Missense_Mutation_p.D19N|PLEC_ENST00000527096.1_Missense_Mutation_p.D68N|PLEC_ENST00000356346.3_Missense_Mutation_p.D27N|PLEC_ENST00000357649.2_Missense_Mutation_p.D45N|PLEC_ENST00000436759.2_Missense_Mutation_p.D68N|PLEC_ENST00000345136.3_Missense_Mutation_p.D41N|PLEC_ENST00000398774.2_Missense_Mutation_p.D9N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	178	Actin-binding.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCACACGATCCCGCTCATCT	0.627000													20	67					0	0	0.001523	0	0
CTC1	80169	broad.mit.edu	37	17	8131878	8131878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:8131878G>A	ENST00000315684.8	-	22	3464	c.3457C>T	c.(3457-3459)Cgt>Tgt	p.R1153C		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1153					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACAATAGGACGGAGGACAGAG	0.507000													57	234					0	0	0.003610	0	0
PTCH1	5727	broad.mit.edu	37	9	98239882	98239882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:98239882C>A	ENST00000430669.2	-	10	1837	c.1252G>T	c.(1252-1254)Gga>Tga	p.G418*	PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G418*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G333*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G483*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G333*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G484*			Q13635	PTC1_HUMAN	patched 1	484					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.G484R(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AGGCCCAGTCCTGCAGCCACT	0.572000													45	10					3.54909e-21	8.97849e-21	0.002852	1	0
ZNF692	55657	broad.mit.edu	37	1	249151487	249151487	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:249151487G>C	ENST00000451251.1	-	4	781	c.436C>G	c.(436-438)Cat>Gat	p.H146D	ZNF692_ENST00000306601.4_Missense_Mutation_p.H141D|ZNF692_ENST00000366471.3_Missense_Mutation_p.H141D|ZNF692_ENST00000366469.5_Missense_Mutation_p.H141D|ZNF692_ENST00000427146.1_Missense_Mutation_p.H141D|ZNF692_ENST00000468455.1_5'UTR	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTAGTATGTGGAAGGGAG	0.567000													42	53					0	0	0.002222	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666488	160666488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:160666488C>T	ENST00000366952.1	-	8	2465	c.984G>A	c.(982-984)atG>atA	p.M328I	SLC22A2_ENST00000366953.3_Missense_Mutation_p.M349I|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	349					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACATCAATATCATAGTATGTT	0.373000													7	25					0	0	0.001984	0	0
C18orf8	29919	broad.mit.edu	37	18	21111620	21111620	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr18:21111620C>G	ENST00000269221.3	+	20	2036	c.1926C>G	c.(1924-1926)ttC>ttG	p.F642L	C18orf8_ENST00000591367.1_3'UTR|NPC1_ENST00000269228.5_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.F594L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	642										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTGCTTTTTTCAAACAGATTT	0.348000													24	76					0	0	0.008361	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080855	9080855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:9080855C>G	ENST00000457346.2	-	9	1159	c.1085G>C	c.(1084-1086)tGc>tCc	p.C362S	SCUBE2_ENST00000520467.1_Missense_Mutation_p.C362S|SCUBE2_ENST00000450649.2_Missense_Mutation_p.C362S|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.C362S			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	362	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATACCTTGGCAAGACTTCTC	0.483000													8	38					0	0	0.003080	0	0
ITGB4	3691	broad.mit.edu	37	17	73749930	73749930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:73749930C>T	ENST00000200181.3	+	33	4380	c.4193C>T	c.(4192-4194)cCg>cTg	p.P1398L	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1398					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATCCCGCGCCTGTCG	0.776000													7	7					0	0	0.001984	0	0
FKBP14	55033	broad.mit.edu	37	7	30066006	30066006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:30066006C>T	ENST00000222803.5	-	1	294	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TTTGGTCTTGCGATGGCAGAT	0.468000													6	206					0	0	0.001168	0	0
TAF1	6872	broad.mit.edu	37	X	70618519	70618519	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chrX:70618519G>C	ENST00000449580.1	+	24	3766	c.3715G>C	c.(3715-3717)Gaa>Caa	p.E1239Q	TAF1_ENST00000373790.4_Missense_Mutation_p.E1239Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1260Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E1260Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1239					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAACCAGGAAAAGGAGAA	0.458000													19	2					0	0	0.008871	0	0
GULP1	51454	broad.mit.edu	37	2	189434754	189434754	+	Splice_Site	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:189434754G>T	ENST00000409580.1	+	10	1230		c.e10-1		GULP1_ENST00000409609.1_Splice_Site|GULP1_ENST00000409805.1_Splice_Site|GULP1_ENST00000359135.3_Splice_Site|GULP1_ENST00000409830.1_Splice_Site|GULP1_ENST00000409843.1_Splice_Site			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTCTTTTTAGATCCAAGACT	0.279000													6	22					3.59834e-05	8.08567e-05	0.001168	1	0
PGBD1	84547	broad.mit.edu	37	6	28268867	28268867	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:28268867C>G	ENST00000405948.2	+	7	1656	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	PGBD1_ENST00000259883.3_Silent_p.L412L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	412					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTTTGAATCTCAAGAGCGAAA	0.348000													15	67					0	0	0.003163	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762651	48762651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chrX:48762651C>T	ENST00000376521.1	-	4	856	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V207I|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V179I|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V118I	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	179					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						ACAATGGCGACGCCAGTGAAG	0.657000													7	4					0	0	0.001984	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450885	117450885	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr7:117450885G>A	ENST00000160373.3	-	3	439	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTGCAGTGGGCCATGACTG	0.507000													47	217					0	0	0.003610	0	0
NICN1	84276	broad.mit.edu	37	3	49466588	49466588	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:49466588C>T	ENST00000273598.3	-	1	171	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.G29S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	29						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGCACGCCAGGCCGGCCT	0.682000													10	18					0	0	0.006214	0	0
RNF8	9025	broad.mit.edu	37	6	37344797	37344797	+	Silent	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:37344797A>G	ENST00000373479.4	+	6	1417	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E	RNF8_ENST00000469731.1_Silent_p.E408E	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	408					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGTTCAGAATACTTCATTG	0.368000													7	9					0	0	0.003080	0	0
GRTP1	79774	broad.mit.edu	37	13	114009696	114009696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr13:114009696G>C	ENST00000375430.4	-	3	328	c.282C>G	c.(280-282)taC>taG	p.Y94*	GRTP1_ENST00000375431.4_Nonsense_Mutation_p.Y94*|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000326039.3_Nonsense_Mutation_p.Y16*|GRTP1-AS1_ENST00000423246.1_RNA			Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	94	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCTGGTGGTAGTAGCCGGGAT	0.672000													42	6					0	0	0.007835	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373011	81373011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:81373011A>G	ENST00000398636.3	+	5	497	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	SFTPA1_ENST00000372308.3_Missense_Mutation_p.Q120R|SFTPA1_ENST00000428376.2_Missense_Mutation_p.Q120R|SFTPA1_ENST00000419470.2_Missense_Mutation_p.Q135R|SFTPA1_ENST00000372313.5_Missense_Mutation_p.Q61R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	120					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAAATCCTGCAGACAAGGGGA	0.547000													65	104					0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144942354	144942354	+	Missense_Mutation	SNP	T	T	C	rs113992087		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:144942354T>C	ENST00000525985.1	-	2	5139	c.5068A>G	c.(5068-5070)Atc>Gtc	p.I1690V				P58107	EPIPL_HUMAN	epiplakin 1	1690						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGATGCCGCCCGTG	0.677000													14	114					0	0	0.004007	0	0
DNAJA1	3301	broad.mit.edu	37	9	33034296	33034296	+	Silent	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:33034296G>T	ENST00000330899.4	+	6	909	c.726G>T	c.(724-726)gtG>gtT	p.V242V	DNAJA1_ENST00000544625.1_Silent_p.V85V|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	242					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTATCATTGTGTTAGATCAGA	0.368000													13	26					5.50884e-06	1.2677e-05	0.001368	1	0
NUP210L	91181	broad.mit.edu	37	1	154062033	154062033	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:154062033A>C	ENST00000368559.3	-	16	2296	c.2225T>G	c.(2224-2226)cTg>cGg	p.L742R	NUP210L_ENST00000271854.3_Missense_Mutation_p.L742R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	742						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTAGGGTTCAGGACACCTGG	0.473000													15	78					0	0	0.004007	0	0
SAP130	79595	broad.mit.edu	37	2	128712891	128712891	+	Silent	SNP	C	C	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:128712891C>A	ENST00000357702.5	-	16	2300	c.2169G>T	c.(2167-2169)gtG>gtT	p.V723V	SAP130_ENST00000259235.3_Silent_p.V688V|SAP130_ENST00000259234.6_Silent_p.V696V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	688	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCCATAGACACGTGGATTT	0.463000													16	52					3.45872e-05	7.81793e-05	0.004007	1	0
AP3D1	8943	broad.mit.edu	37	19	2110868	2110868	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:2110868C>G	ENST00000355272.6	-	27	3219	c.3013G>C	c.(3013-3015)Gag>Cag	p.E1005Q	AP3D1_ENST00000350812.6_Missense_Mutation_p.E774Q|AP3D1_ENST00000356926.4_Missense_Mutation_p.E902Q|AP3D1_ENST00000345016.5_Missense_Mutation_p.E943Q	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	943					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGGCTGTCCTCCTGCAGACTG	0.622000													5	29					0	0	0.000602	0	0
PDHA2	5161	broad.mit.edu	37	4	96761704	96761704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr4:96761704G>C	ENST00000295266.4	+	1	466	c.403G>C	c.(403-405)Gag>Cag	p.E135Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	135					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATTCTCGCAGAGCTGACGGG	0.512000													41	37					0	0	0.006999	0	0
TP53INP1	94241	broad.mit.edu	37	8	95944333	95944333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr8:95944333G>A	ENST00000448464.2	-	4	838	c.476C>T	c.(475-477)gCc>gTc	p.A159V	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Intron|TP53INP1_ENST00000342697.4_Intron	NM_001135733.1	NP_001129205.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	61					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GCTTTTCCTGGCCCTACAAAT	0.363000													4	10					0	0	0.000248	0	0
PTPRT	11122	broad.mit.edu	37	20	40757407	40757407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr20:40757407G>A	ENST00000373198.3	-	20	3135	c.2900C>T	c.(2899-2901)gCc>gTc	p.A967V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A935V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A944V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A948V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A935V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A945V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A954V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	945	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AATGTAGTTGGCATTGATGTA	0.542000													6	64					0	0	0.001984	0	0
TNKS2	80351	broad.mit.edu	37	10	93582061	93582061	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr10:93582061T>A	ENST00000371627.4	+	7	1116	c.737T>A	c.(736-738)gTa>gAa	p.V246E		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	246					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGTGATCTGGTACCATTACAC	0.328000													46	43					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85623415	85623415	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:85623415G>T	ENST00000393217.2	+	25	5004	c.4943G>T	c.(4942-4944)aGa>aTa	p.R1648I	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1648										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTAGTTCCAGAAATATGAAA	0.338000													9	49					1.58986e-06	3.70322e-06	0.008291	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32217677	32217677	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr20:32217677C>T	ENST00000346541.3	+	9	1749	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	CBFA2T2_ENST00000359606.3_Silent_p.V414V|CBFA2T2_ENST00000397800.1_Silent_p.V375V|CBFA2T2_ENST00000375279.2_Silent_p.V404V|CBFA2T2_ENST00000342704.5_Silent_p.V395V|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	404						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGAGTTGGTCTCCAGGCAGC	0.507000													22	27					0	0	0.004656	0	0
CRABP1	1381	broad.mit.edu	37	15	78640277	78640277	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:78640277C>T	ENST00000299529.6	+	4	477	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	124					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	AGACGTTTGGCGCCGATGACG	0.478000													34	45					0	0	0.002836	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217479	26217479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:26217479G>A	ENST00000303910.2	+	1	315	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	93					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CAACGACGAGGAGCTAAATAA	0.592000													19	76					0	0	0.008871	0	0
PPFIA4	8497	broad.mit.edu	37	1	203036878	203036878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:203036878G>A	ENST00000367240.2	+	25	3570	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	PPFIA4_ENST00000295706.4_Missense_Mutation_p.E521K|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E521K|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E1014K|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E530K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.E743K			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	530					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGACCGGAAGGAGCTGGAGAA	0.582000													26	54					0	0	0.007291	0	0
ZNF648	127665	broad.mit.edu	37	1	182026706	182026706	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:182026706G>A	ENST00000339948.3	-	2	647	c.440C>T	c.(439-441)gCg>gTg	p.A147V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ATCATCACCCGCAGGTAGTCG	0.562000													10	50					0	0	0.006214	0	0
PARP15	165631	broad.mit.edu	37	3	122340298	122340298	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:122340298G>T	ENST00000483793.1	+	6	733	c.693G>T	c.(691-693)caG>caT	p.Q231H	PARP15_ENST00000464300.2_Missense_Mutation_p.Q357H|PARP15_ENST00000310366.4_Missense_Mutation_p.Q123H|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.Q123H			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	400	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CAGCTGCACAGCCTCACAGAG	0.393000													38	22					1.8453e-21	4.69936e-21	0.002522	1	0
TTC19	54902	broad.mit.edu	37	17	15902870	15902870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:15902870C>G	ENST00000486880.2	+	1	89	c.71C>G	c.(70-72)tCa>tGa	p.S24*	ZSWIM7_ENST00000399277.1_Silent_p.L13L|ZSWIM7_ENST00000399280.2_Intron|ZSWIM7_ENST00000472495.1_Silent_p.L13L|TTC19_ENST00000261647.5_5'UTR|ZSWIM7_ENST00000486655.1_5'UTR			Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	0					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCATCTCGCTCAGGAGCTCCT	0.746000													3	12					0	0	0.004672	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984777	90984777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr15:90984777G>A	ENST00000268182.5	+	8	813	c.689G>A	c.(688-690)cGt>cAt	p.R230H	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	230					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTATTGACCGTAGAATTCCA	0.353000													16	45					0	0	0.006122	0	0
ZNF524	147807	broad.mit.edu	37	19	56114117	56114117	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:56114117C>T	ENST00000591046.1	+	1	873	c.639C>T	c.(637-639)ctC>ctT	p.L213L	ZNF524_ENST00000301073.3_Silent_p.L213L			Q96C55	ZN524_HUMAN	zinc finger protein 524	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCAACACGCTCCGGCGCCATG	0.711000													18	9					0	0	0.008871	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					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	p.D29H(11)|p.D29N(2)|p.D29Y(2)		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)			ACTCCAAGATCTATATCTTGC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	36					0	0	0.004482	0	0
LOC643733	643733	broad.mit.edu	37	11	104777849	104777849	+	RNA	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:104777849G>A	ENST00000532510.1	-	0	1583																											GTTTGCTGCAGAGACAACAAT	0.433000													4	4					0	0	0.000248	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358754	16358754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:16358754G>A	ENST00000375692.1	+	18	1941	c.1813G>A	c.(1813-1815)Gct>Act	p.A605T	CLCNKA_ENST00000420078.1_Missense_Mutation_p.A605T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A562T|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A605T|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	605	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCCTCCAGGCTGAGCCTCC	0.652000													17	15					0	0	0.004990	0	0
TRPM3	80036	broad.mit.edu	37	9	73167793	73167793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:73167793C>T	ENST00000377110.2	-	23	3748	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K	TRPM3_ENST00000377106.1_Missense_Mutation_p.E1041K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1196K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1028K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1018K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1031K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E1169K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1173K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1028K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1031K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1041K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1194						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGTCGCTCTCGTGTTTCCTC	0.527000													66	170					0	0	0.003610	0	0
FLAD1	80308	broad.mit.edu	37	1	154961343	154961343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:154961343G>A	ENST00000368431.3	+	3	1658	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368433.1_Intron	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTTATGGAGGAGGGGCATTA	0.562000													13	18					0	0	0.003163	0	0
CHST1	8534	broad.mit.edu	37	11	45671418	45671418	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr11:45671418G>C	ENST00000308064.2	-	4	1726	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	352					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGCCGCCGAGTTTCGCACGG	0.672000													47	42					0	0	0.003610	0	0
LAMA2	3908	broad.mit.edu	37	6	129475657	129475657	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr6:129475657T>A	ENST00000421865.2	+	8	1084	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294000													14	32					0	0	0.001855	0	0
SPOPL	339745	broad.mit.edu	37	2	139316665	139316665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:139316665G>T	ENST00000280098.4	+	6	933	c.554G>T	c.(553-555)cGt>cTt	p.R185L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	185						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCTGAGTGTCGTCTAGCAGAA	0.368000													29	55					1.2476e-16	3.11492e-16	0.006320	1	0
CFHR2	3080	broad.mit.edu	37	1	196928195	196928195	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:196928195T>G	ENST00000367415.4	+	5	912	c.798T>G	c.(796-798)agT>agG	p.S266R	CFHR2_ENST00000367421.3_Missense_Mutation_p.S266R	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	266	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TATATCCCAGTTGTGAAGAAA	0.303000													12	33					0	0	0.001368	0	0
PPP2R4	5524	broad.mit.edu	37	9	131897100	131897100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:131897100C>T	ENST00000337738.1	+	7	859	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PPP2R4_ENST00000452489.2_Missense_Mutation_p.L198F|PPP2R4_ENST00000355007.3_Missense_Mutation_p.L121F|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Missense_Mutation_p.L163F|PPP2R4_ENST00000357197.4_Missense_Mutation_p.L134F|PPP2R4_ENST00000358994.4_Missense_Mutation_p.L163F|PPP2R4_ENST00000348141.5_Missense_Mutation_p.L169F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	198					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CGCTGCTTTCCTCTGCTGTCT	0.512000													55	14					0	0	0.003610	0	0
GRIN2D	2906	broad.mit.edu	37	19	48917263	48917263	+	Silent	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:48917263C>T	ENST00000263269.3	+	4	1189	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	367						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TCATGAACATCACGTGGGATA	0.587000													8	47					0	0	0.004482	0	0
ENGASE	64772	broad.mit.edu	37	17	77073809	77073809	+	Silent	SNP	C	C	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:77073809C>G	ENST00000579016.1	+	3	279	c.279C>G	c.(277-279)ctC>ctG	p.L93L	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	93						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGGAGCTCTTGGCGTGGA	0.547000													56	65					0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													5	74					0	0	0.001984	0	0
C2orf16	84226	broad.mit.edu	37	2	27804296	27804296	+	Silent	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:27804296G>A	ENST00000408964.2	+	1	4908	c.4857G>A	c.(4855-4857)gaG>gaA	p.E1619E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCCCCGAGAGGAGCTGTC	0.562000													32	71					0	0	0.008361	0	0
TTC33	23548	broad.mit.edu	37	5	40716573	40716573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr5:40716573G>A	ENST00000337702.4	-	5	615	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	155							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGATAGATGTGAAGGGCTACT	0.373000													20	73					0	0	0.001523	0	0
SCFD1	23256	broad.mit.edu	37	14	31139469	31139469	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr14:31139469A>G	ENST00000458591.2	+	11	1090	c.863A>G	c.(862-864)cAt>cGt	p.H288R	SCFD1_ENST00000541123.1_Missense_Mutation_p.H103R|SCFD1_ENST00000396629.2_Missense_Mutation_p.H196R|SCFD1_ENST00000544052.2_Missense_Mutation_p.H221R|SCFD1_ENST00000421551.3_Missense_Mutation_p.H229R	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	288					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATTTCCATTTAAACAGG	0.338000													72	140					0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634091	70634091	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr14:70634091C>T	ENST00000381269.2	-	2	1802	c.1049G>A	c.(1048-1050)aGc>aAc	p.S350N	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S350N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S350N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S350N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S350N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	350					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGGCACGGCTCTTCTGTTG	0.493000													17	66					0	0	0.004990	0	0
TFAP2E	339488	broad.mit.edu	37	1	36039988	36039988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:36039988delC	ENST00000373235.3	+	2	696	c.488delC	c.(487-489)gcfs	p.A163fs	RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGCGGCGGCCCCCGGTCTG	0.711													2	4	---	---	---	---					
ACP6	51205	broad.mit.edu	37	1	147142082	147142083	+	Frame_Shift_Ins	INS	-	-	C	rs139439515	by1000genomes	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr1:147142082_147142083insC	ENST00000369238.5	-	1	535_536	c.88_89insG	c.(88-90)cctfs	p.P30fs	ACP6_ENST00000392988.2_Frame_Shift_Ins_p.P30fs	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	30					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CTCGGCCAGGGCCACCCGCCGC	0.649													2	4	---	---	---	---					
DPP10	57628	broad.mit.edu	37	2	116572538	116572538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr2:116572538delG	ENST00000410059.1	+	20	2350	c.1870delG	c.(1870-1872)tafs	p.V624fs	DPP10_ENST00000310323.8_Frame_Shift_Del_p.V617fs|DPP10_ENST00000409163.1_Frame_Shift_Del_p.V574fs|DPP10_ENST00000393147.2_Frame_Shift_Del_p.V628fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	624					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAGTAGAAGTAAAGGACCA	0.358													10	78	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741479	84741479	+	RNA	DEL	G	G	-	rs59143453		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr3:84741479delG	ENST00000484892.1	-	0	2354					NR_033860.1																						ACCTGTCCCAGAAAAAAAAAA	0.383													3	5	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15472704	15472705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:15472704_15472705insT	ENST00000380733.4	-	10	1245_1246	c.902_903insA	c.(901-903)aatfs	p.N301fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.N301fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	301					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTCAGCATATTCCTTCTGTG	0.361													72	17	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21970919	21970919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr9:21970919delC	ENST00000304494.5	-	2	709	c.439delG	c.(439-441)ccfs	p.A148fs	CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A97fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A148fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.A147T(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTCCGCGGCATCTATGCGG	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	10	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37657685	37657685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr17:37657685delA	ENST00000447079.4	+	6	2635	c.2602delA	c.(2602-2604)atfs	p.N869fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.N869fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	869	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CATTTTGCTGAATAACAGGTA	0.333			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			13	29	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547973	63547973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr18:63547973delC	ENST00000397968.2	+	12	2627	c.2201delC	c.(2200-2202)gtfs	p.A734fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A734fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGACATATGCTTTTGAAGGA	0.423													21	102	---	---	---	---					
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859	by1000genomes	TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	de932da1-dde5-452c-bd57-3558533b8206	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)cca>c	p.PAPAANPS253del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	253	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665													5	4	---	---	---	---					
TFAP2E	339488	broad.mit.edu	37	1	36039988	36039988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr1:36039988delC	ENST00000373235.3	+	2	696	c.488delC	c.(487-489)gcfs	p.A163fs	RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	163						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGGCGGCGGCCCCCGGTCTG	0.711													2	4	---	---	---	---					
DPP10	57628	broad.mit.edu	37	2	116572538	116572538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr2:116572538delG	ENST00000410059.1	+	20	2350	c.1870delG	c.(1870-1872)tafs	p.V624fs	DPP10_ENST00000409163.1_Frame_Shift_Del_p.V574fs|DPP10_ENST00000393147.2_Frame_Shift_Del_p.V628fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.V617fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	624					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTCAGTAGAAGTAAAGGACCA	0.358													10	78	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741479	84741479	+	RNA	DEL	G	G	-	rs59143453		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:84741479delG	ENST00000484892.1	-	0	2354					NR_033860.1																						ACCTGTCCCAGAAAAAAAAAA	0.383													3	5	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824709	106824709	+	RNA	DEL	C	C	-	rs139188639		TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr3:106824709delC	ENST00000484698.1	-	0	295																											Gtttttatatctttttttttt	0.443													2	4	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15472704	15472705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:15472704_15472705insT	ENST00000380733.4	-	10	1245_1246	c.902_903insA	c.(901-903)aatfs	p.N301fs	PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.N301fs|PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.N301fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	301					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTTTCAGCATATTCCTTCTGTG	0.361													72	17	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21970919	21970919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr9:21970919delC	ENST00000304494.5	-	2	709	c.439delG	c.(439-441)ccfs	p.A148fs	CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.A97fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.A97fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.A148fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.A97fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	148			A -> T (in dbSNP:rs3731249).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.A147T(2)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTTCCGCGGCATCTATGCGG	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			29	10	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37657685	37657685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr17:37657685delA	ENST00000447079.4	+	6	2635	c.2602delA	c.(2602-2604)atfs	p.N869fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.N869fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	869	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CATTTTGCTGAATAACAGGTA	0.333			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			13	29	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63547973	63547973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr18:63547973delC	ENST00000397968.2	+	12	2627	c.2201delC	c.(2200-2202)gtfs	p.A734fs	CDH7_ENST00000323011.3_Frame_Shift_Del_p.A734fs	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGACATATGCTTTTGAAGGA	0.423													21	102	---	---	---	---					
CALR	811	broad.mit.edu	37	19	13054605	13054607	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6951-01A-11D-1912-08	TCGA-CV-6951-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e1bf26c-6a68-44d2-aaa8-9af2f67828aa	cf5ad788-c4aa-4ec9-979e-303ad1c5f643	g.chr19:13054605_13054607delGAG	ENST00000316448.5	+	9	1205_1207	c.1132_1134delGAG	c.(1132-1134)del	p.E381del		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	381	Asp/Glu/Lys-rich.|C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACGCAAAgaggaggaggagg	0.537													4	7	---	---	---	---