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
ACSL5	51703	broad.mit.edu	37	10	114181382	114181382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:114181382C>T	ENST00000393081.1	+	15	1653	c.1346C>T	c.(1345-1347)aCa>aTa	p.T449I	ACSL5_ENST00000433418.1_Missense_Mutation_p.T449I|ACSL5_ENST00000354273.4_Missense_Mutation_p.T449I|ACSL5_ENST00000354655.4_Missense_Mutation_p.T449I|ACSL5_ENST00000369410.3_Missense_Mutation_p.T231I|ACSL5_ENST00000356116.1_Missense_Mutation_p.T505I	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	449					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACAGAATGCACAGGTGGCTGT	0.473000													6	32					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4796181	4796181	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:4796181C>G	ENST00000266544.5	+	11	1061	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	NDUFA9_ENST00000540688.1_Silent_p.L106L|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	347					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CACTGGAACTCAAGGCCATTG	0.512000													31	28					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122745927	122745927	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:122745927C>T	ENST00000267199.4	-	4	476	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.E122K|VPS33A_ENST00000451053.2_Missense_Mutation_p.E122K	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	122					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.E122K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AACCGCTGTTCGCACAACAGG	0.468000													37	50					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2181106	2181106	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:2181106C>G	ENST00000511885.2	-	8	1461	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E370Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	370					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGTATTTTTCTACTAAATCT	0.343000								DNA polymerases (catalytic subunits)					20	56					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121855573	121855573	+	Silent	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:121855573G>T	ENST00000361234.5	+	3	664	c.492G>T	c.(490-492)ctG>ctT	p.L164L	RNF34_ENST00000392465.3_Silent_p.L165L|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Silent_p.L164L	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	164					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CAAGCAGTCTGAATTCTTCAA	0.438000													96	105					5.48297e-45	6.31372e-45	1	1	0
KLHL2	11275	broad.mit.edu	37	4	166235285	166235285	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:166235285G>T	ENST00000226725.6	+	13	1835	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	KLHL2_ENST00000506761.1_Missense_Mutation_p.V360F|KLHL2_ENST00000421009.2_Missense_Mutation_p.V429F|KLHL2_ENST00000538127.1_Missense_Mutation_p.V438F|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.V530F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	526					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		ATGGAGACAGGTTGCAGATAT	0.358000													52	70					1.07234e-20	1.21841e-20	1	1	0
GPR116	221395	broad.mit.edu	37	6	46851928	46851928	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:46851928G>C	ENST00000283296.7	-	5	697	c.409C>G	c.(409-411)Ctc>Gtc	p.L137V	GPR116_ENST00000265417.7_Missense_Mutation_p.L137V|GPR116_ENST00000362015.4_Missense_Mutation_p.L137V|GPR116_ENST00000456426.2_Missense_Mutation_p.L137V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	137					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACAAATGAGATTGTGAAGA	0.502000													5	86					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998535	120998535	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:120998535C>G	ENST00000392793.1	+	9	2120	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	TECTA_ENST00000264037.2_Missense_Mutation_p.L617V			O75443	TECTA_HUMAN	tectorin alpha	617	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGCTCCGACCTGACGGCCTC	0.652000													5	91					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36776389	36776389	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:36776389G>T	ENST00000399881.3	+	23	2607	c.2570G>T	c.(2569-2571)cGa>cTa	p.R857L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTGCCGAAAAGTCCCT	0.358000													28	8					4.22769e-11	4.51835e-11	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61621021	61621021	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:61621021G>C	ENST00000583023.1	+	10	2244	c.2233G>C	c.(2233-2235)Ggg>Cgg	p.G745R	KCNH6_ENST00000314672.5_Splice_Site_p.D745H|KCNH6_ENST00000581784.1_Splice_Site_p.D692H|KCNH6_ENST00000456941.2_Splice_Site_p.D692H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	745					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAACCAGTCAGGTGAGCAAAG	0.642000													7	66					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	79986467	79986467	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:79986467C>G	ENST00000328827.4	-	7	1315	c.943G>C	c.(943-945)Gat>Cat	p.D315H		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	315	Leucine-zipper.				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTATGTCATCTAGGTCCTTA	0.308000													10	33					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208633392	208633392	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:208633392C>T	ENST00000295417.3	-	2	625	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	24					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		ACGCGGCGGCCGCCCGGCCCA	0.706000													6	5					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524764	228524764	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:228524764G>C	ENST00000570156.2	+	76	19542	c.19468G>C	c.(19468-19470)Gag>Cag	p.E6490Q	OBSCN_ENST00000366709.4_Missense_Mutation_p.E2652Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.E3167Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5533Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5533Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5533	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGGGCACAGAGGAGTTCCT	0.637000													11	21					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080544	34080544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:34080544G>A	ENST00000389232.4	+	67	9785	c.9715G>A	c.(9715-9717)Gat>Aat	p.D3239N	RYR3_ENST00000415757.3_Missense_Mutation_p.D3239N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3239					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTGAAAGCCGATGGCAAAGG	0.567000													50	32					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106921791	106921791	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:106921791T>G	ENST00000393603.2	-	14	1893	c.1622A>C	c.(1621-1623)aAt>aCt	p.N541T	COG5_ENST00000297135.3_Missense_Mutation_p.N541T|COG5_ENST00000347053.3_Missense_Mutation_p.N541T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	541					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTTTGCCACATTTTTTGACAC	0.313000													29	44					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47984069	47984069	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:47984069C>G	ENST00000338134.3	-	6	654	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	183					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGCTGTTCCTCAAACTGATGC	0.607000													127	55					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998780	99998780	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:99998780C>A	ENST00000398027.2	-	18	2051	c.1804G>T	c.(1804-1806)Gtc>Ttc	p.V602F	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V431F|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V431F|ZCWPW1_ENST00000360951.4_3'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	602							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAAGGGGGACACTTCCAGCC	0.617000													25	27					7.38237e-10	7.86533e-10	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160267979	160267979	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:160267979G>A	ENST00000264431.4	+	19	3477	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1020					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTCAAATCCGAGACCTCTCC	0.468000													20	93					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452387	10452387	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:10452387C>T	ENST00000397077.1	-	5	887	c.312G>A	c.(310-312)caG>caA	p.Q104Q	ATP2B2_ENST00000360273.2_Silent_p.Q104Q|ATP2B2_ENST00000343816.4_Silent_p.Q104Q|ATP2B2_ENST00000383800.4_Silent_p.Q104Q|ATP2B2_ENST00000352432.4_Silent_p.Q104Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	104					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGTCACGTCCTGCAGCGCCT	0.557000													134	175					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34310608	34310608	+	Splice_Site	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr18:34310608G>C	ENST00000257209.4	+	17	3014		c.e17-1		FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000591635.1_Splice_Site|FHOD3_ENST00000592128.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site|FHOD3_ENST00000359247.4_Splice_Site	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TTATCACTAAGAAAACTGCTG	0.398000													42	49					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930375	46930375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:46930375G>A	ENST00000264318.3	-	9	2514	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	511					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCAGATCCAGAAGGTGGTGG	0.433000													36	43					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGACCTGTACGGCCTGTCCG	0.443000													64	9					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35751167	35751167	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr13:35751167C>T	ENST00000540320.1	+	28	5123	c.4589C>T	c.(4588-4590)cCt>cTt	p.P1530L	NBEA_ENST00000400445.3_Missense_Mutation_p.P1530L|NBEA_ENST00000379939.2_Missense_Mutation_p.P1527L|NBEA_ENST00000310336.4_Missense_Mutation_p.P1530L			Q8NFP9	NBEA_HUMAN	neurobeachin	1530						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AACCTTTCTCCTATTAAGGAT	0.353000													3	10					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64717303	64717303	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:64717303G>C	ENST00000301896.5	-	6	334	c.261C>G	c.(259-261)ttC>ttG	p.F87L	C11orf85_ENST00000530444.1_Intron|C11orf85_ENST00000432175.1_Missense_Mutation_p.F87L|C11orf85_ENST00000536065.1_5'UTR	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	87										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						CCCCATGTTTGAATTTCAGGT	0.393000													58	58					0	0	1	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668545	180668545	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:180668545C>G	ENST00000512805.1	-	3	784	c.376G>C	c.(376-378)Gat>Cat	p.D126H	GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000456394.2_Missense_Mutation_p.D126H|GNB2L1_ENST00000376817.4_Missense_Mutation_p.D82H|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.D126H	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	126					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		ATGGTTTTATCTCGAGATCCA	0.507000													12	63					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111085637	111085637	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:111085637C>T	ENST00000551590.1	+	14	1860	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	TCTN1_ENST00000397659.4_Silent_p.F573F|TCTN1_ENST00000377654.3_3'UTR|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Silent_p.F554F			Q2MV58	TECT1_HUMAN	tectonic family member 1	568					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AGGCAGGCTTCAGAGCTCCAC	0.498000													28	27					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76915148	76915148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:76915148C>T	ENST00000409709.3	+	39	5626	c.5354C>T	c.(5353-5355)cCg>cTg	p.P1785L	MYO7A_ENST00000409619.2_Missense_Mutation_p.P1736L|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Missense_Mutation_p.P1747L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1785	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCGACTACCCGTCCAAGAGG	0.612000													3	5					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27760355	27760355	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:27760355G>A	ENST00000295743.4	-	4	1391	c.1188C>T	c.(1186-1188)taC>taT	p.Y396Y	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Silent_p.Y101Y|EOMES_ENST00000449599.1_Silent_p.Y396Y			O95936	EOMES_HUMAN	eomesodermin	396					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCGGGGTTGGTATTTGTGTA	0.383000													20	29					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359374	33359374	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:33359374C>T	ENST00000334528.9	-	1	711	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E238K|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGGACCCTTCTTCTCCCACC	0.507000													34	48					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44954072	44954072	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:44954072C>T	ENST00000290015.2	+	4	1115	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	354					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTGTGTACACCTGCAAGCACT	0.637000													8	55					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27934101	27934101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:27934101G>A	ENST00000381271.2	+	1	1149	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_020782.1	NP_065833.1			kelch-like family member 42																		CAGCACCAACGAGTGGCTCCA	0.547000													9	17					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160321571	160321571	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:160321571C>A	ENST00000368063.1	+	8	1039	c.759C>A	c.(757-759)gaC>gaA	p.D253E	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368065.4_Missense_Mutation_p.D15E|NCSTN_ENST00000294785.5_Missense_Mutation_p.D273E|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.D253E			Q92542	NICA_HUMAN	nicastrin	273					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCTGACGACAGGGTTGTGG	0.512000													64	137					7.41606e-26	8.48258e-26	1	1	0
ZNF442	79973	broad.mit.edu	37	19	12462045	12462045	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:12462045G>A	ENST00000242804.4	-	6	936	c.354C>T	c.(352-354)agC>agT	p.S118S	ZNF442_ENST00000438182.1_Silent_p.S49S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CACACACACTGCTTTTACATG	0.398000													5	112					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64160937	64160937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:64160937G>A	ENST00000409558.4	-	12	1727	c.1573C>T	c.(1573-1575)Caa>Taa	p.Q525*	VPS54_ENST00000354504.3_Nonsense_Mutation_p.Q384*|VPS54_ENST00000272322.4_Nonsense_Mutation_p.Q537*	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi			p.Q537*(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCATTTCTTTGAGAGGTAGTG	0.443000													38	51					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130221351	130221351	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:130221351G>T	ENST00000323301.4	+	6	925		c.e6+1		LRSAM1_ENST00000373322.1_Splice_Site|LRSAM1_ENST00000373324.4_Splice_Site|LRSAM1_ENST00000300417.6_Splice_Site	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1						negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGCCCTCCAGGTAAGGCTGCA	0.562000													12	36					0.00010058	0.000103609	1	1	0
TCF23	150921	broad.mit.edu	37	2	27373165	27373165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:27373165G>A	ENST00000296096.5	+	2	527	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	133					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCACACTCGGCCACGAGTT	0.662000													87	90					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178990886	178990886	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:178990886C>T	ENST00000286070.5	+	9	1500	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	472					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ATCTAACAAACGGCAAAGAAC	0.348000													33	44					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536649	27536649	+	RNA	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:27536649C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGTTCACTCTCTGCAGGTTTT	0.438000													13	15					4.93089e-13	5.35354e-13	1	1	0
TUBA4A	7277	broad.mit.edu	37	2	220115094	220115094	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:220115094C>T	ENST00000392088.2	-	4	1837	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	TUBA4A_ENST00000248437.4_Missense_Mutation_p.E443K	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	443					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCATCCTCGTCCTCATAG	0.502000													5	89					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78183636	78183636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:78183636G>T	ENST00000370793.1	-	18	2273	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	USP33_ENST00000370794.3_Missense_Mutation_p.Q612K|USP33_ENST00000370792.3_Missense_Mutation_p.Q635K|USP33_ENST00000357428.1_Missense_Mutation_p.Q643K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	643					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGAAATGGCTGAAGATCCAAG	0.378000													36	59					1.26612e-14	1.40133e-14	1	1	0
FLNC	2318	broad.mit.edu	37	7	128485245	128485245	+	Silent	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:128485245C>A	ENST00000325888.8	+	21	3987	c.3726C>A	c.(3724-3726)gtC>gtA	p.V1242V	FLNC_ENST00000346177.6_Silent_p.V1242V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1242					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCACCCGTGTCCATGTGCAGC	0.592000													7	30					0.00198382	0.00201325	1	1	0
MIR124-2HG	100130155	broad.mit.edu	37	8	65291708	65291708	+	RNA	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:65291708C>G	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							CTTTCCGGATCAAGATTAGAG	0.512000													6	36					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918384	154918384	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:154918384G>C	ENST00000368463.3	-	10	1837	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	PBXIP1_ENST00000368465.1_Nonsense_Mutation_p.S560*|PBXIP1_ENST00000542459.1_Nonsense_Mutation_p.S434*|PBXIP1_ENST00000539880.1_Nonsense_Mutation_p.S416*	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	589					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCACACCTGAGCAGCCCTG	0.622000													7	108					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799708	119799708	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:119799708A>T	ENST00000355624.3	-	2	1161	c.722T>A	c.(721-723)cTg>cAg	p.L241Q	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L241Q|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	241					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)		GCCAGCCTTCAGTTTCTCAGA	0.443000													29	27					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126738	100126738	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:100126738G>A	ENST00000330710.5	+	5	1595	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	HHIPL1_ENST00000357223.2_Missense_Mutation_p.M499I	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	499					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GGGATTTCATGAGCGGGTAAG	0.617000													47	57					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	rs140496718		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:55693262C>T	ENST00000376350.3	-	20	3230	c.3208G>A	c.(3208-3210)Gta>Ata	p.V1070I	PTPRH_ENST00000263434.5_Missense_Mutation_p.V892I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1070	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCAGGAATACGTACTGAGCC	0.622000													28	76					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885497	24885497	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:24885497C>T	ENST00000382554.3	+	9	4860	c.4542C>T	c.(4540-4542)ctC>ctT	p.L1514L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1514					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTAACTCACTCAGCCTCGACA	0.552000													7	2					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58206918	58206918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr13:58206918G>A	ENST00000377918.3	+	1	264	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	80	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGTGGACGCAGACAGCGGGCT	0.672000													7	12					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123247514	123247514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:123247514C>G	ENST00000358487.5	-	14	2249	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N	FGFR2_ENST00000346997.2_Missense_Mutation_p.K657N|FGFR2_ENST00000360144.3_Missense_Mutation_p.K571N|FGFR2_ENST00000356226.4_Missense_Mutation_p.K542N|FGFR2_ENST00000457416.2_Missense_Mutation_p.K660N|FGFR2_ENST00000369056.1_Missense_Mutation_p.K660N|FGFR2_ENST00000357555.5_Missense_Mutation_p.K570N|FGFR2_ENST00000369060.4_Missense_Mutation_p.K543N|FGFR2_ENST00000369061.4_Missense_Mutation_p.K547N|FGFR2_ENST00000478859.1_Missense_Mutation_p.K431N|FGFR2_ENST00000369059.1_Missense_Mutation_p.K545N|FGFR2_ENST00000351936.6_Missense_Mutation_p.K657N	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	659	Protein kinase.		K -> N (in craniosynostosis).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.K659N(2)|p.K660N(1)|p.K570N(1)|p.K657N(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATTGGTGGTCTTTTTGTAAT	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				24	63					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714857	55714857	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:55714857C>G	ENST00000379668.2	+	1	512	c.474C>G	c.(472-474)ctC>ctG	p.L158L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCCAGCACTCATGTTGCTTT	0.378000													19	18					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684662	26684662	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:26684662T>A	ENST00000272371.2	-	43	5561	c.5435A>T	c.(5434-5436)gAg>gTg	p.E1812V	OTOF_ENST00000339598.3_Missense_Mutation_p.E1045V|OTOF_ENST00000338581.6_Missense_Mutation_p.E1045V|OTOF_ENST00000403946.3_Missense_Mutation_p.E1812V|OTOF_ENST00000402415.3_Missense_Mutation_p.E1122V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1812					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACATGGACTCCTTCTTGGA	0.602000													67	107					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125867251	125867251	+	Missense_Mutation	SNP	T	T	C	rs149325046		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:125867251T>C	ENST00000392693.3	-	12	2340	c.2213A>G	c.(2212-2214)tAt>tGt	p.Y738C	CDON_ENST00000531738.1_Missense_Mutation_p.Y115C|CDON_ENST00000263577.7_Missense_Mutation_p.Y738C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	738	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAAGTGACATAGACTGATGT	0.493000													5	43					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123904378	123904378	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:123904378G>C	ENST00000373855.1	+	19	2961	c.2701G>C	c.(2701-2703)Gat>Cat	p.D901H	CNTRL_ENST00000373847.1_Missense_Mutation_p.D349H|CNTRL_ENST00000238341.5_Missense_Mutation_p.D901H|CNTRL_ENST00000373850.1_Missense_Mutation_p.D349H			Q7Z7A1	CNTRL_HUMAN	centriolin	901					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GATGAATTTTGATAAGAGGCA	0.294000													13	5					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18822097	18822097	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:18822097G>C	ENST00000361511.4	+	14	1647	c.1153G>C	c.(1153-1155)Gat>Cat	p.D385H	PPEF1_ENST00000544635.1_Missense_Mutation_p.D320H|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.D332H|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	385	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTTTGGACCAGATGTTACTTC	0.423000													24	39					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151129820	151129820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:151129820C>T	ENST00000370325.1	-	5	634	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194E			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	194					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGAGCATCCGGCATCAAT	0.507000													10	38					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80741194	80741194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:80741194C>G	ENST00000509894.1	+	14	2358	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	TTK_ENST00000369798.2_Missense_Mutation_p.S511C|TTK_ENST00000230510.3_Missense_Mutation_p.S510C			P33981	TTK_HUMAN	TTK protein kinase	511					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GTTTTAGCATCTTCTTCAGCA	0.299000													31	40					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9402088	9402088	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:9402088G>C	ENST00000378501.2	+	23	2278	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	PLCB4_ENST00000334005.3_Missense_Mutation_p.E755Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E755Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E767Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.E755Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E767Q	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	755	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTACAATGAAGAGTCATTTGT	0.423000													25	51					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443705	17443705	+	RNA	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr21:17443705C>T	ENST00000458468.1	+	0	299					NR_027790.1																						CTCAGCCAATCAGTGACATCA	0.507000													5	13					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122929133	122929133	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:122929133C>T	ENST00000534624.1	-	8	1858	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	HSPA8_ENST00000227378.3_Missense_Mutation_p.E528K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E292K|HSPA8_ENST00000532636.1_Missense_Mutation_p.E528K|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.E509K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E382K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	528					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTCATCTTCAGCTTTGTAC	0.413000													63	70					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829094	45829094	+	Missense_Mutation	SNP	T	T	C	rs146680640	byFrequency	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:45829094T>C	ENST00000263736.4	-	3	271	c.209A>G	c.(208-210)aAt>aGt	p.N70S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	70					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGTGGGGCATTCTTCTTCAC	0.512000													49	113					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045248	7045248	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:7045248C>A	ENST00000356654.4	+	5	1055	c.818C>A	c.(817-819)aCa>aAa	p.T273K	ATN1_ENST00000396684.2_Missense_Mutation_p.T273K	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	273					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTCCCCCAACAAAGCCGCCT	0.622000													4	37					0.217242	0.217242	1	1	0
HSPA4	3308	broad.mit.edu	37	5	132426918	132426918	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:132426918C>G	ENST00000304858.2	+	12	1701	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	471					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCCTCAGTCTGATGGCTCC	0.418000													5	129					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145508608	145508608	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:145508608G>A	ENST00000330165.8	+	4	408	c.339G>A	c.(337-339)ctG>ctA	p.L113L	RBM8A_ENST00000369307.3_Silent_p.L112L	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A		RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGATATCTGAAGGTATCCT	0.428000													98	7					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145509201	145509201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:145509201G>C	ENST00000330165.8	+	6	584	c.515G>C	c.(514-516)aGa>aCa	p.R172T	RBM8A_ENST00000369307.3_Missense_Mutation_p.R171T	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGACCGGAGACGTCGCTGA	0.502000													41	9					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42126602	42126602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr22:42126602G>T	ENST00000401548.3	+	9	1097	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E93*|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	353							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACTCCTGGTAGAAGAGCCACT	0.488000													18	35					0.00152264	0.00155446	1	1	0
TMC4	147798	broad.mit.edu	37	19	54667405	54667405	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:54667405C>T	ENST00000416963.1	-	1	20	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TMC4_ENST00000376591.4_Intron|TMC4_ENST00000301187.4_Intron			Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	0						integral to membrane		p.Q7H(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAACATCCCTCTGACCGCCCC	0.572000											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	41					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658697	55658697	+	Silent	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:55658697A>G	ENST00000449290.2	+	7	1040	c.948A>G	c.(946-948)caA>caG	p.Q316Q	TRIM51_ENST00000244891.3_Silent_p.Q173Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	316	B30.2/SPRY.					intracellular	zinc ion binding										GTGACCCTCAAGATGATCCCG	0.418000													26	90					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124738120	124738120	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:124738120C>A	ENST00000311127.4	-	5	1641	c.1574G>T	c.(1573-1575)cGt>cTt	p.R525L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	525	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACGTTCTCCACGTGGTGCTGA	0.448000													15	22					2.32078e-09	2.4573e-09	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62196284	62196284	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:62196284G>A	ENST00000467148.1	-	8	3960	c.3891C>T	c.(3889-3891)ctC>ctT	p.L1297L	HELZ2_ENST00000427522.2_Silent_p.L728L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CGAGGATGCGGAGGCCCTGCT	0.642000													7	16					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890569	51890569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:51890569C>T	ENST00000221973.3	-	2	171	c.129G>A	c.(127-129)tgG>tgA	p.W43*	LIM2_ENST00000596399.1_Nonsense_Mutation_p.W43*	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	43					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGCAGTACCGCCACAGGCCCT	0.672000													31	90					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15307698	15307698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:15307698G>A	ENST00000537676.1	-	5	592	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	ASB11_ENST00000480796.1_Nonsense_Mutation_p.Q195*|ASB11_ENST00000380470.3_Nonsense_Mutation_p.Q178*|ASB11_ENST00000344384.4_Nonsense_Mutation_p.Q174*			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	195					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GTTCCGAGCTGAGGCACCTCA	0.448000													63	141					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043184	43043184	+	Missense_Mutation	SNP	G	G	C	rs142883089		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:43043184G>C	ENST00000316099.4	+	5	619	c.530G>C	c.(529-531)cGg>cCg	p.R177P	HNF4A_ENST00000415691.2_Missense_Mutation_p.R177P|HNF4A_ENST00000316673.4_Missense_Mutation_p.R155P|HNF4A_ENST00000457232.1_Missense_Mutation_p.R155P|HNF4A_ENST00000443598.2_Missense_Mutation_p.R177P|HNF4A_ENST00000609795.1_Missense_Mutation_p.R155P	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCGACATTCGGGCGAAGAAG	0.577000													14	28					0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342816	29342816	+	Silent	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:29342816G>T	ENST00000396806.3	-	1	252	c.249C>A	c.(247-249)ctC>ctA	p.L83L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GACTGCACACGAGGTTTACGA	0.453000													23	37					2.39556e-15	2.66867e-15	1	1	0
BPTF	2186	broad.mit.edu	37	17	65978372	65978372	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:65978372C>G	ENST00000321892.4	+	30	9170	c.9109C>G	c.(9109-9111)Cat>Gat	p.H3037D	BPTF_ENST00000306378.6_Missense_Mutation_p.H2911D|BPTF_ENST00000424123.3_Missense_Mutation_p.H2755D|BPTF_ENST00000335221.5_Missense_Mutation_p.H2894D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3037					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGTAGGTCTCATAACAACAA	0.368000													30	76					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31905101	31905101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:31905101G>T	ENST00000556679.1	+	5	590	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	C2_ENST00000469372.1_Nonsense_Mutation_p.E86*|CFB_ENST00000477310.1_Nonsense_Mutation_p.E150*|C2_ENST00000299367.5_Nonsense_Mutation_p.E332*|C2_ENST00000452323.2_Nonsense_Mutation_p.E118*|CFB_ENST00000456570.1_Nonsense_Mutation_p.E179*|C2_ENST00000442278.2_Nonsense_Mutation_p.E200*			P00751	CFAB_HUMAN	complement factor B	348	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGATCATGAAAATGGAAC	0.463000													39	87					2.35958e-20	2.67211e-20	1	1	0
AQR	9716	broad.mit.edu	37	15	35182483	35182483	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:35182483C>G	ENST00000156471.5	-	24	2839	c.2614G>C	c.(2614-2616)Gat>Cat	p.D872H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	872						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGGCGCTCATCAATGTCTAAT	0.428000													58	119					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889648	27889648	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:27889648C>G	ENST00000307201.4	-	2	1508	c.1338G>C	c.(1336-1338)caG>caC	p.Q446H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	446						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTTCCCGCCTCTGCAAGGCTC	0.572000													26	33					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160482598	160482598	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:160482598T>A	ENST00000356956.1	+	24	3474	c.3326T>A	c.(3325-3327)gTt>gAt	p.V1109D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1109					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGACGGCTGTTGACACCTCT	0.502000													7	130					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995837	183995837	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:183995837G>A	ENST00000402825.3	+	5	957	c.957G>A	c.(955-957)aaG>aaA	p.K319K	ECE2_ENST00000357474.5_Splice_Site_p.K247K|ECE2_ENST00000404464.3_Splice_Site_p.K201K|ECE2_ENST00000359140.4_Splice_Site_p.K172K|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	319	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCATTGAGAAGGTAGGGCCAC	0.582000													8	74					0	0	1	0	0
ARL8A	127829	broad.mit.edu	37	1	202107112	202107112	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:202107112G>C	ENST00000272217.2	-	3	427	c.259C>G	c.(259-261)Cga>Gga	p.R87G	ARL8A_ENST00000486225.1_5'UTR	NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	87					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CTCACTCCTCGGCAGTAGCGC	0.637000													4	26					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329860	75329860	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:75329860C>G	ENST00000556084.2	-	1	677	c.678G>C	c.(676-678)ctG>ctC	p.L226L	PROX2_ENST00000556489.2_Silent_p.L226L|PROX2_ENST00000445876.1_Silent_p.L226L	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	226					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCTCTTTCCTCAGAATCTCTA	0.532000													28	48					0	0	1	0	0
NANOG	79923	broad.mit.edu	37	12	7947073	7947073	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:7947073C>T	ENST00000229307.4	+	3	654	c.435C>T	c.(433-435)aaC>aaT	p.N145N	NANOG_ENST00000526286.1_Silent_p.N145N	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	145					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GGTTCCAGAACCAGAGAATGA	0.363000													5	27					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531985	92531985	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:92531985A>T	ENST00000298047.6	+	9	5823	c.5806A>T	c.(5806-5808)Agt>Tgt	p.S1936C	FAT3_ENST00000525166.1_Missense_Mutation_p.S1786C|FAT3_ENST00000409404.2_Missense_Mutation_p.S1936C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1936	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACTCAAACAGTGGAGTACT	0.423000										TCGA Ovarian(4;0.039)			25	27					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450771	155450771	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:155450771C>T	ENST00000461783.3	+	6	1687	c.414C>T	c.(412-414)ctC>ctT	p.L138L	TIAM2_ENST00000529824.2_Silent_p.L138L|TIAM2_ENST00000360366.4_Silent_p.L138L|TIAM2_ENST00000318981.5_Silent_p.L138L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Silent_p.L138L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	138					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GACACCTTCTCAACTGCTACG	0.572000													11	16					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26875278	26875278	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr22:26875278C>G	ENST00000398145.2	-	3	701	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	HPS4_ENST00000398141.1_Missense_Mutation_p.E24Q|HPS4_ENST00000336873.5_Missense_Mutation_p.E29Q|HPS4_ENST00000402105.3_Missense_Mutation_p.E24Q	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	29					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGATCGCCTTCTTCCTTTACC	0.433000									Hermansky-Pudlak syndrome				9	23					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306533	41306533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:41306533G>A	ENST00000373198.4	-	7	1361	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	PTPRT_ENST00000373187.1_Missense_Mutation_p.P376S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P376S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P376S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P376S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P376S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P376S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Fibronectin type-III 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)				GTGGTGAGGGGAGGCCCTGGC	0.547000													32	50					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11076243	11076243	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:11076243G>A	ENST00000287766.4	+	15	1975	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	SLC6A1_ENST00000536032.1_Silent_p.Q340Q	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	518					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTGCTGTGCAGATGACGCCAC	0.602000													13	30					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141201949	141201949	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:141201949C>A	ENST00000389484.3	-	65	11215	c.10244G>T	c.(10243-10245)aGa>aTa	p.R3415I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3415	LDL-receptor class A 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCATTACATCTTAAGTTTAC	0.393000										TSP Lung(27;0.18)			26	115					1.2476e-16	1.39438e-16	1	1	0
SNHG11	128439	broad.mit.edu	37	20	37076848	37076848	+	RNA	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:37076848G>A	ENST00000365032.1	+	0	122																											TGTCCCAGGAGCTTTCCTACA	0.562000													4	93					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41864735	41864735	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:41864735C>T	ENST00000263798.3	+	15	2072	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	TYRO3_ENST00000559066.1_Silent_p.L571L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	616	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTTCCTGCTCGCCTCCCGGA	0.617000													7	33					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36365087	36365087	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:36365087C>T	ENST00000312412.4	-	4	507	c.508G>A	c.(508-510)Gag>Aag	p.E170K	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.E15K																kidney(1)|lung(3)	4						TAGCGCACCTCTCCAGAAGGG	0.358000													3	39					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658379	33658379	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:33658379G>A	ENST00000504830.1	-	7	1435	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S367L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	367	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACACATTCCTGAAAGGTGAGA	0.522000										HNSCC(64;0.19)			51	64					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631650	116631650	+	Silent	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:116631650C>A	ENST00000395715.3	-	3	1252	c.675G>T	c.(673-675)ccG>ccT	p.P225P	TRPS1_ENST00000519674.1_Silent_p.P212P|TRPS1_ENST00000519076.1_Silent_p.P166P|TRPS1_ENST00000220888.5_Silent_p.P212P|TRPS1_ENST00000520276.1_Silent_p.P216P	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	212					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAGGTGCCGGGTCTGGGT	0.463000									Langer-Giedion syndrome				4	142					0.00909568	0.00917617	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764194	77764194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:77764194C>G	ENST00000521891.2	+	10	5485	c.5037C>G	c.(5035-5037)atC>atG	p.I1679M	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I1634M|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I1653M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I1634M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1634	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGATTTAATCTCTGCTCAAC	0.428000										HNSCC(33;0.089)			35	21					0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59417023	59417023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:59417023C>T	ENST00000300146.9	-	14	1729	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	549	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GGTCGCTCTTCTTCCAGACTT	0.463000													12	21					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56720472	56720472	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:56720472G>A	ENST00000425394.2	-	7	1567	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PAN2_ENST00000257931.5_Silent_p.L397L|PAN2_ENST00000440411.3_Silent_p.L397L|PAN2_ENST00000548043.1_Silent_p.L397L	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	397					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGACAGGGATGAGGGAAAGAG	0.587000													16	4					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985955	48985955	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr13:48985955G>A	ENST00000378434.4	-	7	2229	c.605C>T	c.(604-606)aCt>aTt	p.T202I	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.T202I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	202						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACTAGAACAAGTTACATTTAA	0.274000													13	27					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17318752	17318752	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:17318752C>T	ENST00000452699.1	-	18	2165	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y	ATP13A2_ENST00000326735.8_Missense_Mutation_p.C664Y|ATP13A2_ENST00000341676.5_Missense_Mutation_p.C659Y|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	664					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTCGGGGTTGCAGAGCCCTGC	0.672000													13	6					0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15928487	15928487	+	Splice_Site	SNP	T	T	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:15928487T>A	ENST00000261647.5	+	8	1300		c.e8+2		TTC19_ENST00000497842.2_Splice_Site|TTC19_ENST00000486880.2_Splice_Site	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19						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)		CACCCACAGGTAAGGGAGGAA	0.443000													11	16					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58934551	58934551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:58934551C>T	ENST00000423743.3	+	17	2479	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*	KIAA0586_ENST00000556134.1_Nonsense_Mutation_p.R770*|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Nonsense_Mutation_p.R838*|KIAA0586_ENST00000261244.5_Nonsense_Mutation_p.R709*	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	709										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCATCATCTCGAAAAGTAGA	0.438000													49	8					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49770250	49770250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:49770250G>A	ENST00000321599.4	-	4	891	c.590C>T	c.(589-591)tCc>tTc	p.S197F	IP6K1_ENST00000395238.1_Missense_Mutation_p.S32F|IP6K1_ENST00000460540.1_Missense_Mutation_p.S32F|IP6K1_ENST00000468463.1_Missense_Mutation_p.S197F	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	197					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CTTGGACTCGGAGCGCATGCG	0.557000													14	21					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307585	113307585	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:113307585G>T	ENST00000389385.4	+	9	1129	c.632G>T	c.(631-633)gGc>gTc	p.G211V	RPH3A_ENST00000420983.2_Missense_Mutation_p.G211V|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.G211V|RPH3A_ENST00000415485.3_Missense_Mutation_p.G211V|RPH3A_ENST00000551052.1_Missense_Mutation_p.G207V|RPH3A_ENST00000548866.1_Missense_Mutation_p.G162V|RPH3A_ENST00000447659.2_Missense_Mutation_p.G162V	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	211	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GATAGGAGGGGCCCGGGTCAG	0.458000													51	61					9.40368e-32	1.07921e-31	1	1	0
C1orf192	257177	broad.mit.edu	37	1	161334764	161334764	+	Silent	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:161334764G>C	ENST00000367974.1	-	5	530	c.525C>G	c.(523-525)gcC>gcG	p.A175A		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	175										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTTAGGATTTGGCTGGTCTTT	0.517000													8	79					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11312646	11312646	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:11312646C>T	ENST00000379261.4	+	7	707	c.615C>T	c.(613-615)atC>atT	p.I205I	CELF2_ENST00000450189.1_Silent_p.I212I|CELF2_ENST00000416382.2_Silent_p.I205I|CELF2_ENST00000609692.1_Silent_p.I181I|CELF2_ENST00000537122.1_Silent_p.I94I|CELF2_ENST00000354440.2_Silent_p.I181I|CELF2_ENST00000427450.1_Silent_p.I181I|CELF2_ENST00000608830.1_Silent_p.I181I|CELF2_ENST00000315874.4_Silent_p.I181I|CELF2_ENST00000542579.1_Silent_p.I212I|CELF2_ENST00000354897.3_Silent_p.I181I|CELF2_ENST00000417956.2_Silent_p.I181I|CELF2_ENST00000399850.3_Silent_p.I181I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	205	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTTCACCTATCGTGGTGAAGT	0.577000											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	27					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903984	70903984	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:70903984C>G	ENST00000264436.4	-	13	1981	c.1537G>C	c.(1537-1539)Gcg>Ccg	p.A513P	ADD2_ENST00000430656.1_Missense_Mutation_p.A529P|ADD2_ENST00000407644.2_Missense_Mutation_p.A513P|ADD2_ENST00000413157.2_Missense_Mutation_p.A513P|ADD2_ENST00000355733.3_Missense_Mutation_p.A513P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGAGGCCCCGCTGACTTCACA	0.607000													24	39					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687344	23687344	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:23687344T>G	ENST00000546136.1	-	14	2064	c.2062A>C	c.(2062-2064)Agc>Cgc	p.S688R	SOX5_ENST00000451604.2_Missense_Mutation_p.S701R|SOX5_ENST00000381381.2_Missense_Mutation_p.S580R|SOX5_ENST00000541536.1_Missense_Mutation_p.S580R|SOX5_ENST00000537393.1_Missense_Mutation_p.S666R|SOX5_ENST00000309359.1_Missense_Mutation_p.S688R|SOX5_ENST00000545921.1_Missense_Mutation_p.S691R|SOX5_ENST00000396007.2_Missense_Mutation_p.S315R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	701					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGCTCTGGGCTGCTAGACACG	0.572000													5	43					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	49					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75135976	75135976	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:75135976C>G	ENST00000372921.5	-	13	1335		c.e13-1		ANXA7_ENST00000535178.1_Splice_Site	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAAGGTCAATCTGCATAAGAA	0.328000													11	32					0	0	1	0	0
GGCT	79017	broad.mit.edu	37	7	30538494	30538494	+	Silent	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:30538494T>C	ENST00000275428.4	-	3	482	c.348A>G	c.(346-348)gaA>gaG	p.E116E	GGCT_ENST00000598361.1_Silent_p.E31E|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.E116E	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	116					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						TTTCTTTTCCTTCTTGAGTTG	0.383000													4	126					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669430	48669430	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:48669430C>T	ENST00000352832.5	+	13	3259	c.2887C>T	c.(2887-2889)Ctg>Ttg	p.L963L	CACNA1G_ENST00000507510.2_Silent_p.L963L|CACNA1G_ENST00000515411.1_Silent_p.L963L|CACNA1G_ENST00000515765.1_Silent_p.L963L|CACNA1G_ENST00000515165.1_Silent_p.L963L|CACNA1G_ENST00000505165.1_Silent_p.L963L|CACNA1G_ENST00000513964.1_Silent_p.L963L|CACNA1G_ENST00000514717.1_Silent_p.L963L|CACNA1G_ENST00000514079.1_Silent_p.L963L|CACNA1G_ENST00000507609.1_Silent_p.L963L|CACNA1G_ENST00000513689.2_Silent_p.L963L|CACNA1G_ENST00000360761.4_Silent_p.L963L|CACNA1G_ENST00000359106.5_Silent_p.L963L|CACNA1G_ENST00000507336.1_Silent_p.L963L|CACNA1G_ENST00000502264.1_Silent_p.L963L|CACNA1G_ENST00000507896.1_Silent_p.L963L|CACNA1G_ENST00000510115.1_Silent_p.L963L|CACNA1G_ENST00000358244.5_Silent_p.L963L|CACNA1G_ENST00000512389.1_Silent_p.L963L|CACNA1G_ENST00000416767.4_Silent_p.L963L|CACNA1G_ENST00000429973.2_Silent_p.L963L|CACNA1G_ENST00000514181.1_Silent_p.L963L|CACNA1G_ENST00000503485.1_Silent_p.L963L|CACNA1G_ENST00000442258.2_Silent_p.L963L|CACNA1G_ENST00000510366.1_Silent_p.L963L|CACNA1G_ENST00000354983.4_Silent_p.L963L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	963					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCGCCATTCTGGTGGAGGG	0.582000													21	36					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976417	131976417	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:131976417T>G	ENST00000356920.5	+	1	536	c.442T>G	c.(442-444)Tgg>Ggg	p.W148G	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.W148G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	148							ATP binding										CAGAGCTGCCTGGTGGGGTAA	0.572000													13	88					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34175643	34175643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:34175643G>A	ENST00000266483.2	+	1	428	c.109G>A	c.(109-111)Gac>Aac	p.D37N	ALG10_ENST00000538927.1_Missense_Mutation_p.D37N|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	37					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCCCTACATGGACGAGATCTT	0.602000													91	105					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624320	31624320	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:31624320G>T	ENST00000349552.1	+	7	647	c.647G>T	c.(646-648)aGc>aTc	p.S216I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	216						extracellular region	lipid binding										ACCACAGCCAGCTACATCCAA	0.577000													25	139					7.92952e-12	8.52798e-12	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29883583	29883583	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:29883583G>C	ENST00000308713.5	-	16	3155	c.2628C>G	c.(2626-2628)ttC>ttG	p.F876L	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.F819L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.F845L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.F775L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	876						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGAGAAGCCGAAAAGGGACT	0.602000													14	20					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137466873	137466873	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:137466873T>C	ENST00000296980.2	-	7	980	c.680A>G	c.(679-681)gAa>gGa	p.E227G	IL22RA2_ENST00000349184.4_Missense_Mutation_p.E195G|IL22RA2_ENST00000339602.3_3'UTR	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	227	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		AGCTTCAATTTCAACCGCTCT	0.433000													35	40					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461801	5461801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:5461801C>T	ENST00000345221.3	-	4	2769	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	739					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.E739K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATTTCTTCGAAATGGGCC	0.512000													30	68					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171890	153171890	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:153171890G>C	ENST00000370049.1	+	2	962	c.930G>C	c.(928-930)taG>taC	p.*310Y	AVPR2_ENST00000337474.5_Intron|AVPR2_ENST00000358927.2_Intron			P30518	V2R_HUMAN	arginine vasopressin receptor 2	0					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCGTGGCTAGGGCTGACGGG	0.662000													22	56					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													34	29					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200589	123200589	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:123200589G>A	ENST00000528880.2	-	1	850	c.696C>T	c.(694-696)ttC>ttT	p.F232F	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	232						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CCACCATGATGAAGGTGATGG	0.552000													14	20					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39422618	39422618	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr13:39422618A>C	ENST00000280481.7	+	8	6406	c.6190A>C	c.(6190-6192)Atc>Ctc	p.I2064L	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2064	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTATGTGGGCATCAGCCGTAA	0.383000													5	114					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33462931	33462931	+	Splice_Site	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:33462931G>T	ENST00000336325.4	+	1	28		c.e1+1			NM_001242393.1	NP_001229322.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTCTTTGTGGTGAGTGCAGG	0.507000													16	68					2.48551e-13	2.7245e-13	1	1	0
TSIX	9383	broad.mit.edu	37	X	73048964	73048964	+	RNA	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:73048964G>A	ENST00000604411.1	+	0	36925				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGGGAAGGCTGACTTCCTTCA	0.448000													35	23					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13838504	13838504	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:13838504A>T	ENST00000357447.2	-	5	659	c.291T>A	c.(289-291)ttT>ttA	p.F97L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.F97L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.F82L|FRMD4A_ENST00000342409.2_Missense_Mutation_p.F113L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	97	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACCTGACACAAAAGTATAAAA	0.428000													5	106					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37494578	37494578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr22:37494578C>T	ENST00000381792.2	-	3	354	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E72K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E81K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E72K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	81					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCATCACCTCCGCCTTGTAC	0.587000													52	130					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230226	110230226	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:110230226G>A	ENST00000418703.2	-	11	1927	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	TRPV4_ENST00000392719.2_Silent_p.F564F|TRPV4_ENST00000537083.1_Silent_p.F551F|TRPV4_ENST00000536838.1_Silent_p.F577F|TRPV4_ENST00000346520.2_Silent_p.F551F|TRPV4_ENST00000541794.1_Silent_p.F564F|TRPV4_ENST00000544971.1_Silent_p.F504F|TRPV4_ENST00000261740.2_Silent_p.F611F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	611					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAAGGTCCTTGAAGAGAATCT	0.552000													26	35					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64643246	64643246	+	Silent	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:64643246T>C	ENST00000371079.1	+	9	1897	c.1522T>C	c.(1522-1524)Ttg>Ctg	p.L508L	ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	508	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATCAAGACCTTGAAAGACTA	0.468000													7	259					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13697126	13697126	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:13697126G>T	ENST00000011619.3	-	2	632	c.574C>A	c.(574-576)Cat>Aat	p.H192N		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	192	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTTTTGCCATGACCTGCATAG	0.393000													37	66					1.47244e-24	1.67859e-24	1	1	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													3	25					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67575416	67575416	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:67575416C>G	ENST00000540839.3	+	12	1165	c.945C>G	c.(943-945)ccC>ccG	p.P315P	FAM65A_ENST00000428437.2_Silent_p.P309P|FAM65A_ENST00000042381.4_Silent_p.P295P|FAM65A_ENST00000379312.3_Silent_p.P299P|FAM65A_ENST00000422602.2_Silent_p.P315P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	299						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCGCCCTGCCCCAGGTTGTGG	0.582000													6	97					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829683	106829683	+	RNA	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:106829683T>C	ENST00000390616.2	-	0	310																											ACTGATATGGTGACTCGACTC	0.567000													33	246					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903561	90903561	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:90903561C>T	ENST00000354377.3	+	4	684	c.498C>T	c.(496-498)ctC>ctT	p.L166L	ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTCCTATCTCATAAGACACC	0.478000													52	32					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973008	235973008	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:235973008C>T	ENST00000389794.3	-	5	1284	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LYST_ENST00000389793.2_Silent_p.Q370Q|LYST_ENST00000536965.1_Silent_p.Q370Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	370					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGGGTCAGGCTGCTTTTCTA	0.378000													6	154					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049190	50049190	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:50049190C>G	ENST00000371564.3	-	9	2355	c.2136G>C	c.(2134-2136)ccG>ccC	p.P712P	NFATC2_ENST00000609507.1_Silent_p.P493P|NFATC2_ENST00000610033.1_Silent_p.P493P|NFATC2_ENST00000396009.3_Silent_p.P712P|NFATC2_ENST00000414705.1_Silent_p.P692P|NFATC2_ENST00000609943.1_Silent_p.P692P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	712					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCACCATCGGGTGCTGGG	0.657000													8	33					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203154457	203154457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:203154457C>T	ENST00000255409.3	-	3	237	c.112G>A	c.(112-114)Gat>Aat	p.D38N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	38					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAGCTCCCATCGCCTTCCCGG	0.562000													26	32					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566004	142566004	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:142566004G>T	ENST00000392957.2	+	14	2711	c.1924G>T	c.(1924-1926)Gtg>Ttg	p.V642L	EPHB6_ENST00000442129.1_Missense_Mutation_p.V642L|EPHB6_ENST00000411471.2_Missense_Mutation_p.V365L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	642						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGGACTCGGGGTGAAGTATTA	0.567000													16	43					2.94398e-08	3.09798e-08	1	1	0
TRIT1	54802	broad.mit.edu	37	1	40318485	40318485	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:40318485G>C	ENST00000316891.5	-	4	492	c.478C>G	c.(478-480)Ctt>Gtt	p.L160V	TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.L160V|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.L80V	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	160					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAAGTACAAGACCATCCTCC	0.473000													6	181					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64645786	64645786	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:64645786C>T	ENST00000320631.3	-	1	405	c.151G>A	c.(151-153)Gag>Aag	p.E51K	EHD1_ENST00000359393.2_Missense_Mutation_p.E51K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	51					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						TCAGCGTCCTCCAGCGCGGGC	0.632000													36	40					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873737	66873737	+	Silent	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:66873737C>A	ENST00000269080.2	-	31	4139	c.4002G>T	c.(4000-4002)ctG>ctT	p.L1334L	ABCA8_ENST00000586539.1_Silent_p.L1374L|ABCA8_ENST00000430352.2_Silent_p.L1374L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1334	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCTCACTGTCAGGTTGGGCC	0.602000													44	98					1.03325e-14	1.1473e-14	1	1	0
BDKRB1	623	broad.mit.edu	37	14	96730965	96730965	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:96730965G>C	ENST00000216629.6	+	3	1552	c.946G>C	c.(946-948)Ggc>Cgc	p.G316R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G250R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	316					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCTTTGTGGGCCGGCTCTT	0.458000													6	181					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69057643	69057643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:69057643C>T	ENST00000383701.3	-	5	989	c.247G>A	c.(247-249)Gag>Aag	p.E83K	EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.E83K	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		CAGGATTTCTCATAACCCCAG	0.393000													37	72					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318837	79318837	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:79318837C>T	ENST00000428286.1	-	9	7815	c.6615G>A	c.(6613-6615)gaG>gaA	p.E2205E	PRUNE2_ENST00000376718.3_Silent_p.E2564E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2564					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCACAGGTCTCTGGCTTTG	0.408000													25	132					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704183	47704183	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr21:47704183G>A	ENST00000397708.1	-	2	1272	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R340W			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	340					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTATCGTCCGACCAAATAAA	0.517000													5	89					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10098144	10098144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:10098144C>T	ENST00000380861.4	+	18	2972	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.Q861*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	861										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGAGAAATTTCAGCCCTCGCC	0.552000													10	52					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975862	118975862	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:118975862G>A	ENST00000296499.5	+	2	1200	c.797G>A	c.(796-798)gGa>gAa	p.G266E	NDST3_ENST00000433996.2_Missense_Mutation_p.G266E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	266	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCATGATGGAATTCAAAGG	0.413000													60	21					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70806805	70806805	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:70806805G>A	ENST00000358731.4	+	17	4149	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1296	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGAGGATCTGAAGAGATCTG	0.408000													22	63					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150749734	150749734	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:150749734C>G	ENST00000357922.4	+	10	2126	c.1532C>G	c.(1531-1533)gCt>gGt	p.A511G	ASIC3_ENST00000349064.5_Missense_Mutation_p.L531V|ASIC3_ENST00000297512.8_Missense_Mutation_p.S537R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	285					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										TGTCACACAGCTCTAGACCTG	0.592000													5	138					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41862876	41862876	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:41862876C>A	ENST00000263798.3	+	12	1782	c.1558C>A	c.(1558-1560)Ctg>Atg	p.L520M	TYRO3_ENST00000559066.1_Missense_Mutation_p.L475M	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	520	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCAGTTCACCCTGGGCCGGAT	0.547000													12	45					5.50884e-06	5.72651e-06	1	1	0
NSD1	64324	broad.mit.edu	37	5	176562585	176562585	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:176562585G>A	ENST00000439151.2	+	2	526	c.481G>A	c.(481-483)Gat>Aat	p.D161N	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.D161N|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	161					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGTGTGGACGATGCAGATGT	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			18	30					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38128983	38128983	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:38128983T>G	ENST00000339363.3	-	18	3126	c.2959A>C	c.(2959-2961)Aaa>Caa	p.K987Q	RPGR_ENST00000318842.7_Missense_Mutation_p.K782Q|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Missense_Mutation_p.K720Q			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	987					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTATCACTTTTTAAAATGATC	0.363000													52	29					0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69400865	69400865	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:69400865C>T	ENST00000254942.3	-	7	1201	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	TERF2_ENST00000603068.1_Silent_p.K353K	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	353					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				TGCGCTTGTTCTTGGGCTGCA	0.572000													24	5					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278072	134278072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:134278072C>T	ENST00000337090.3	+	14	1927	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.A585V|CEP63_ENST00000606977.1_Missense_Mutation_p.A585V			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	585					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGAGGACAAGCGTCGGATAGT	0.478000													64	75					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	301594	301594	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:301594C>T	ENST00000390665.3	-	10	1275	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	419	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCGGCACTGCTCCTCGTAGA	0.632000													4	55					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55189858	55189858	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:55189858A>T	ENST00000337714.3	+	5	2215	c.1982A>T	c.(1981-1983)cAa>cTa	p.Q661L	AKAP1_ENST00000572557.1_Missense_Mutation_p.Q661L|AKAP1_ENST00000571629.1_Missense_Mutation_p.Q661L|AKAP1_ENST00000539273.1_Missense_Mutation_p.Q661L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	661	KH.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TTAGGCTCTCAACATCATGTA	0.498000													4	121					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160310174	160310174	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:160310174A>T	ENST00000392783.2	-	4	779	c.284T>A	c.(283-285)cTt>cAt	p.L95H	BAZ2B_ENST00000355831.2_Missense_Mutation_p.L95H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L95H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L95H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	95				L -> G (in Ref. 6; AAH12576).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGGTGTACCAAGTGTCCCCAA	0.502000													9	27					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41862487	41862487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:41862487C>T	ENST00000263798.3	+	11	1656	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	TYRO3_ENST00000559066.1_Missense_Mutation_p.R433W	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	478						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CGTTCACTTCCGGGCAGCCCG	0.577000													11	113					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108705730	108705730	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:108705730G>T	ENST00000232603.5	-	22	2336	c.2254C>A	c.(2254-2256)Caa>Aaa	p.Q752K	MORC1_ENST00000483760.1_Missense_Mutation_p.Q731K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	752					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTACCTTGGTTTAAAAGA	0.279000													24	64					3.7963e-18	4.25684e-18	1	1	0
CORO1A	11151	broad.mit.edu	37	16	30197968	30197968	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:30197968C>T	ENST00000219150.5	+	3	553	c.248C>T	c.(247-249)cCt>cTt	p.P83L	CORO1A_ENST00000570045.1_Missense_Mutation_p.P83L|CORO1A_ENST00000565497.1_Missense_Mutation_p.P83L	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	83					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CACACAGCCCCTGTGCTAGAC	0.607000													6	13					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32630009	32630009	+	Silent	SNP	G	G	T	rs41558012		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:32630009G>T	ENST00000399084.1	-	4	574	c.396C>A	c.(394-396)acC>acA	p.T132T	HLA-DQB1_ENST00000399079.3_Silent_p.T132T|HLA-DQB1_ENST00000434651.2_Silent_p.T132T|HLA-DQB1_ENST00000374943.4_Silent_p.T132T|HLA-DQB1_ENST00000399082.3_Silent_p.T42T|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	132	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGGGAGATGGTCACTGTGG	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				13	72					0.000308642	0.000316984	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100957037	100957037	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:100957037T>C	ENST00000548884.1	+	11	1730	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	NR1H4_ENST00000188403.7_Missense_Mutation_p.Y407H|NR1H4_ENST00000551379.1_Missense_Mutation_p.Y411H|NR1H4_ENST00000549996.1_Missense_Mutation_p.Y350H|NR1H4_ENST00000392986.3_Missense_Mutation_p.Y401H	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	411	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AGATAGACAATACATAAAGGA	0.328000													27	30					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178948160	178948160	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:178948160G>A	ENST00000263967.3	+	20	3089	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	978	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGAGAATTTGAGAGGTGAGC	0.323000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			66	37					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567501	5567501	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:5567501T>A	ENST00000331789.5	-	6	1197	c.1006A>T	c.(1006-1008)Aag>Tag	p.K336*	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	336					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACGGAGTACTTGCGCTCAGGA	0.617000													16	94					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134020059	134020059	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:134020059C>T	ENST00000359428.5	+	12	1831	c.1687C>T	c.(1687-1689)Cca>Tca	p.P563S	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P563S|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P563S|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	563	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACCAGTGCCAAGTGTGTC	0.502000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	34					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36681757	36681757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr22:36681757C>A	ENST00000216181.5	-	37	5451	c.5221G>T	c.(5221-5223)Gag>Tag	p.E1741*	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1741					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			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						TTGCCCTgctcctcctccagc	0.672000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	8					0.000442599	0.000453201	1	1	0
APOB	338	broad.mit.edu	37	2	21239346	21239346	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:21239346C>G	ENST00000233242.1	-	21	3424	c.3297G>C	c.(3295-3297)aaG>aaC	p.K1099N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1099					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTAATTTTCTTGTTCTGAA	0.478000													44	56					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6219611	6219611	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:6219611T>G	ENST00000261405.5	-	5	715	c.461A>C	c.(460-462)tAc>tCc	p.Y154S	VWF_ENST00000572068.1_Missense_Mutation_p.Y191S	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	154	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTGTTGAAGTATCTGTCTGA	0.493000													58	78					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760716	7760716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:7760716G>A	ENST00000340209.4	+	13	1475	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	RBFOX1_ENST00000436368.2_Missense_Mutation_p.R383Q|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R388Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R361Q|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R409Q|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R388Q			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	388					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTATATACCGAGGGGGATAC	0.438000													8	70					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138566669	138566669	+	Silent	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:138566669C>G	ENST00000251691.4	+	8	772	c.606C>G	c.(604-606)ctC>ctG	p.L202L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	202					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TAGAGTCCCTCTGTGATGATG	0.527000													6	11					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54496159	54496159	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:54496159G>A	ENST00000252729.2	+	1	618	c.28G>A	c.(28-30)Gag>Aag	p.E10K	CACNG6_ENST00000346968.2_Missense_Mutation_p.E10K|CACNG6_ENST00000352529.1_Missense_Mutation_p.E10K	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	10						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTTCCTGCAAGAGGAGAAccg	0.736000													6	23					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16527368	16527368	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:16527368A>G	ENST00000311331.7	-	6	923	c.832T>C	c.(832-834)Tgt>Cgt	p.C278R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATGTACTACATTTGTAGGGT	0.348000													4	88					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321348	52321348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:52321348G>A	ENST00000356297.4	-	17	2936	c.2836C>T	c.(2836-2838)Cga>Tga	p.R946*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R946*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	946					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCTCCTGTCGCGCGCACTCG	0.647000													4	11					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935619	49935619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:49935619C>G	ENST00000296474.3	-	5	1772	c.1745G>C	c.(1744-1746)aGg>aCg	p.R582T	MST1R_ENST00000344206.4_Missense_Mutation_p.R582T	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	582	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTACTGCCCCTTAGAGGTCC	0.587000													38	41					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321875	106321875	+	RNA	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:106321875C>T	ENST00000390559.2	-	0	358																											GAAGCCGTCGCGGGGTGGGAC	0.667000													36	19					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	95947796	95947796	+	Silent	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:95947796C>A	ENST00000297954.4	+	1	585	c.585C>A	c.(583-585)ctC>ctA	p.L195L	WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.L195L|WNK2_ENST00000395475.2_Silent_p.L181L|WNK2_ENST00000427277.2_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	195	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCGCTTCCTCAAGTTCGACA	0.667000													7	9					2.7689e-08	2.92272e-08	1	1	0
GPR116	221395	broad.mit.edu	37	6	46836738	46836738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:46836738C>G	ENST00000283296.7	-	12	1791	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	GPR116_ENST00000265417.7_Missense_Mutation_p.E501D|GPR116_ENST00000362015.4_Missense_Mutation_p.E501D|GPR116_ENST00000456426.2_Missense_Mutation_p.E359D|GPR116_ENST00000545669.1_5'UTR	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	501	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCAATAAACCTCATCATAGT	0.373000													15	24					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24001167	24001167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:24001167C>G	ENST00000312521.4	+	4	697	c.378C>G	c.(376-378)ttC>ttG	p.F126L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	126					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CTTAGGGTTTCTTTCGGAGAA	0.353000													42	32					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139893047	139893047	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:139893047G>C	ENST00000297183.6	+	24	4424	c.4300G>C	c.(4300-4302)Gaa>Caa	p.E1434Q	ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1434Q|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1434Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTTAAAGGAACTTGATCT	0.428000													20	29					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95506869	95506869	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:95506869G>A	ENST00000317968.4	+	6	1000	c.864G>A	c.(862-864)caG>caA	p.Q288Q	PDLIM5_ENST00000542407.1_Silent_p.Q166Q|PDLIM5_ENST00000508216.1_Silent_p.Q185Q|PDLIM5_ENST00000538141.1_Silent_p.Q165Q|PDLIM5_ENST00000380180.3_Silent_p.Q185Q|PDLIM5_ENST00000514743.1_Silent_p.Q185Q|PDLIM5_ENST00000318007.5_Silent_p.Q165Q|PDLIM5_ENST00000437932.1_Silent_p.Q179Q|PDLIM5_ENST00000450793.1_Silent_p.Q185Q|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	288					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCCTTGCCCAGATCACTGGGA	0.463000													20	36					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153584	5153584	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:5153584C>G	ENST00000307388.1	-	1	288	c.289G>C	c.(289-291)Gat>Cat	p.D97H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGACAGGCATCAAAAGAAATC	0.438000													18	6					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123046561	123046561	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:123046561G>C	ENST00000462833.1	-	7	3063	c.1851C>G	c.(1849-1851)gaC>gaG	p.D617E	ADCY5_ENST00000491190.1_Missense_Mutation_p.D250E|ADCY5_ENST00000309879.5_Missense_Mutation_p.D267E	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	617					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCACCTCGTAGTCCCCATTCA	0.577000													11	20					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780279	37780279	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:37780279T>G	ENST00000447769.1	+	4	573	c.284T>G	c.(283-285)cTg>cGg	p.L95R	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.L95R|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGCCATGCTGCACATCCAC	0.463000													12	52					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036250	153036250	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:153036250A>T	ENST00000538966.1	+	12	2388	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L	PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q336L|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q293L|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q683L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	683					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCCCACAGGTCGAAGGC	0.632000													5	32					0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43698276	43698276	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr18:43698276T>C	ENST00000282058.6	+	3	415	c.335T>C	c.(334-336)cTa>cCa	p.L112P	HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	112					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						GATACCTCGCTAGCTAGGTAA	0.398000													5	108					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841585	4841585	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:4841585C>T	ENST00000399583.3	-	12	2728	c.2541G>A	c.(2539-2541)ccG>ccA	p.P847P	RADIL_ENST00000538469.1_Silent_p.P607P|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	847	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGGCAGCTCGGGGCCTCCA	0.697000													6	2					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472475	66472475	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:66472475C>T	ENST00000533211.1	-	15	2603	c.2272G>A	c.(2272-2274)Gac>Aac	p.D758N	SPTBN2_ENST00000529997.1_Missense_Mutation_p.D758N|SPTBN2_ENST00000309996.2_Missense_Mutation_p.D758N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	758					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCCATGTCGTTTGCATCG	0.682000													20	26					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114607	40114607	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:40114607C>G	ENST00000324616.5	+	13	1667	c.1513C>G	c.(1513-1515)Caa>Gaa	p.Q505E		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	505										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGATGAAGATCAAATATCACA	0.279000													7	48					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557167	138557167	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:138557167G>A	ENST00000277526.3	+	4	384	c.384G>A	c.(382-384)agG>agA	p.R128R	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	128						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGAACTTCAGGAACGGGACCG	0.627000													4	12					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043674	87043674	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:87043674C>G	ENST00000370563.3	+	12	2083	c.2041C>G	c.(2041-2043)Cat>Gat	p.H681D	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	681						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGTTCGGGCTCATGGAGGAGC	0.438000													12	32					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77756562	77756562	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:77756562G>C	ENST00000354212.4	-	19	3628	c.3375C>G	c.(3373-3375)caC>caG	p.H1125Q	MAGI2_ENST00000419488.1_Missense_Mutation_p.H1111Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.H1125Q	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1125						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTCGGGGGAGTGCTGCCTGT	0.642000													59	61					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106756353	106756353	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:106756353C>T	ENST00000369076.3	-	3	445	c.122G>A	c.(121-123)aGa>aAa	p.R41K	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.R41K|ATG5_ENST00000369070.1_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	41					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATAACTTACTCTTGGCAAAAG	0.284000													11	5					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22196454	22196454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:22196454C>G	ENST00000379374.4	+	14	2112	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	PHEX_ENST00000418858.3_Missense_Mutation_p.S219C|PHEX_ENST00000537599.1_Missense_Mutation_p.S516C|PHEX_ENST00000535894.1_Missense_Mutation_p.S419C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	516					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTAGCACAGTCTGATTTCTTC	0.358000													15	37					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705684	126705684	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:126705684C>T	ENST00000274473.6	+	6	669	c.402C>T	c.(400-402)aaC>aaT	p.N134N	MEGF10_ENST00000508365.1_Silent_p.N134N|MEGF10_ENST00000503335.2_Silent_p.N134N|MEGF10_ENST00000418761.2_Silent_p.N134N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	134	EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GAGGGACCAACTGCTCCAGTG	0.527000													15	41					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105677537	105677537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:105677537C>T	ENST00000546474.1	-	17	16877	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	BRF1_ENST00000446501.2_Missense_Mutation_p.E402K|BRF1_ENST00000547530.1_Missense_Mutation_p.E166K|BRF1_ENST00000440513.3_Missense_Mutation_p.E547K|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.E436K|BRF1_ENST00000379937.2_Missense_Mutation_p.E613K|BRF1_ENST00000327359.3_Missense_Mutation_p.E525K|BRF1_ENST00000379932.4_Intron	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	640					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCAGCCTCCTCGTCGGCGTGG	0.687000													71	27					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111175	29111175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr18:29111175C>T	ENST00000261590.8	+	9	1449	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	414	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGGAAATTTTCAAGCTTTTGA	0.358000													44	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578666	179578666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:179578666G>A	ENST00000589042.1	-	92	26943	c.26719C>T	c.(26719-26721)Cct>Tct	p.P8907S	TTN_ENST00000591111.1_Missense_Mutation_p.P8590S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7663S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8590	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCCAACAGGGTTCTGCACC	0.408000													18	13					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122199597	122199597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:122199597C>A	ENST00000449592.2	+	6	605	c.504C>A	c.(502-504)taC>taA	p.Y168*	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	168						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGTGGTATTACTGCACCCTGA	0.567000													17	140					3.51602e-12	3.80531e-12	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134346361	134346361	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:134346361C>T	ENST00000357304.4	+	13	2153	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.H700Y|PRRC2B_ENST00000405995.1_Missense_Mutation_p.H700Y	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	700							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCCGCCCTGCATCCCTCAGG	0.572000													9	19					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204064152	204064152	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:204064152A>T	ENST00000449802.1	+	48	7466	c.7133A>T	c.(7132-7134)cAa>cTa	p.Q2378L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2378							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATCAAGGATCAAACTGTGACA	0.303000													7	111					0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2444495	2444495	+	Silent	SNP	G	G	A	rs112240907		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:2444495G>A	ENST00000339610.6	-	5	536	c.81C>T	c.(79-81)atC>atT	p.I27I	SNRPB_ENST00000381342.2_Silent_p.I106I|SNRPB_ENST00000438552.2_Silent_p.I106I			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	106					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CAGCCCTGCCGATCCCTGGGC	0.592000													44	57					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													3	52					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904338	5904338	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:5904338G>A	ENST00000378961.4	+	4	1752	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	516						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAAGAGGAAGAGATTAGGGG	0.463000													22	24					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246374	46246374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:46246374G>T	ENST00000334344.6	+	15	4640	c.4468G>T	c.(4468-4470)Gga>Tga	p.G1490*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.G1100*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.G98*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.G1341*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCCGACTCAGGATCAAAAGT	0.463000			"""N, S, F"""		hepatocellular carcinoma								38	41					1.66425e-11	1.78424e-11	1	1	0
JTB	10899	broad.mit.edu	37	1	153949716	153949716	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:153949716C>A	ENST00000271843.4	-	1	448	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_5'UTR|JTB_ENST00000356648.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	5					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCTCCCGGCACCCGCAAGC	0.637000													30	34					3.73148e-12	4.02576e-12	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59445944	59445944	+	Silent	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:59445944G>T	ENST00000288235.4	-	26	3324	c.2925C>A	c.(2923-2925)ccC>ccA	p.P975P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	975					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAGGAGCATGGGGATATGGCA	0.522000													11	48					2.62699e-14	2.88884e-14	1	1	0
MSH6	2956	broad.mit.edu	37	2	48026581	48026581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:48026581G>A	ENST00000234420.5	+	4	1611	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	MSH6_ENST00000540021.1_Missense_Mutation_p.E357K|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E185K	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAACAGACTGAGACTCCAGA	0.473000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				12	32					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423985	91423985	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:91423985G>A	ENST00000268171.3	+	14	1900	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	541					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCCTGGGATGAGGATCCCTC	0.572000													10	12					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764438	19764438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:19764438C>G	ENST00000397821.3	-	3	574	c.284G>C	c.(283-285)aGa>aCa	p.R95T	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R58T|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R95T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	95					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTCCATACCTCTCTTATTGGT	0.418000													54	49					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832626	44832626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:44832626G>A	ENST00000354340.4	-	4	1735	c.1684C>T	c.(1684-1686)Ctt>Ttt	p.L562F	ZNF112_ENST00000536500.1_Missense_Mutation_p.L585F|ZNF112_ENST00000337401.4_Missense_Mutation_p.L568F	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGGGCTTGAAGATATGAACTC	0.428000													44	140					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56083887	56083887	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:56083887C>G	ENST00000582730.2	-	2	319	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SRSF1_ENST00000258962.4_Splice_Site_p.D66H|SRSF1_ENST00000585096.1_Splice_Site_p.D66H|SRSF1_ENST00000584773.1_Splice_Site_p.D66H	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	66	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCCGCGTCTCTGCGGGAT	0.607000													11	19					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133256217	133256217	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:133256217C>G	ENST00000320574.5	-	6	487	c.444G>C	c.(442-444)ttG>ttC	p.L148F	POLE_ENST00000535270.1_Missense_Mutation_p.L121F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	148					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AATTTCGCTTCAAACCCACCA	0.463000								DNA polymerases (catalytic subunits)					10	50					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50357575	50357575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:50357575G>C	ENST00000394688.3	-	12	1525	c.1366C>G	c.(1366-1368)Ccg>Gcg	p.P456A	BRD7_ENST00000394689.2_Missense_Mutation_p.P456A			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	456					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATGACATACGGATAATCTTGG	0.443000													10	92					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99931127	99931127	+	Silent	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:99931127T>C	ENST00000455616.1	-	18	2260	c.1914A>G	c.(1912-1914)gaA>gaG	p.E638E	SYTL4_ENST00000454200.2_Silent_p.E640E|SYTL4_ENST00000263033.5_Silent_p.E638E|SYTL4_ENST00000276141.6_Silent_p.E638E|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Silent_p.E638E			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	638					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTCACTTCTTCCCCAGTCG	0.567000													13	28					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005822	42005822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:42005822C>T	ENST00000395925.3	-	15	2933	c.2849G>A	c.(2848-2850)aGg>aAg	p.R950K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	950					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGGCTCATCCTCTCCATGTT	0.711000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				13	15					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197029556	197029556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:197029556C>A	ENST00000367412.1	-	5	788	c.745G>T	c.(745-747)Gga>Tga	p.G249*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	249	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAATCAGATCCACTTAGATAA	0.308000													13	109					4.93089e-13	5.35354e-13	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158516887	158516887	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:158516887C>G	ENST00000355585.4	+	27	4057	c.3982C>G	c.(3982-3984)Ctt>Gtt	p.L1328V	SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1283V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L413V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1328	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCGCCGCCTCTTGTGCCCAA	0.642000													28	28					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416415	105416415	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:105416415C>T	ENST00000333244.5	-	7	5492	c.5373G>A	c.(5371-5373)gtG>gtA	p.V1791V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1791						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCGACGTCCACCTCCACGC	0.637000													142	275					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538776	1538776	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:1538776G>A	ENST00000389470.4	-	9	1355	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	INTS1_ENST00000404767.3_Silent_p.S324S			Q8N201	INT1_HUMAN	integrator complex subunit 1	324					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)		ACTCCTCCACGCTCTCCGCGA	0.697000													21	20					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234520	155234520	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:155234520C>G	ENST00000368361.4	-	9	1294	c.979G>C	c.(979-981)Gac>Cac	p.D327H	CLK2_ENST00000361168.5_Missense_Mutation_p.D326H|CLK2_ENST00000355560.4_Missense_Mutation_p.D325H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.D327H			P49760	CLK2_HUMAN	CDC-like kinase 2	327	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGCCAAAGTCTACCACCCGC	0.547000								Other conserved DNA damage response genes					56	1					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216243955	216243955	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:216243955G>A	ENST00000354785.4	-	34	5889	c.5520C>T	c.(5518-5520)ctC>ctT	p.L1840L	FN1_ENST00000443816.1_Silent_p.L1659L|FN1_ENST00000336916.4_Silent_p.L1749L|FN1_ENST00000359671.1_Silent_p.L1749L|FN1_ENST00000346544.3_Silent_p.L1749L|FN1_ENST00000357009.2_Silent_p.L1749L|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000421182.1_Silent_p.L1659L|FN1_ENST00000345488.5_Silent_p.L1749L|FN1_ENST00000357867.4_Silent_p.L1659L|FN1_ENST00000446046.1_Silent_p.L1749L|FN1_ENST00000356005.4_Silent_p.L1659L|FN1_ENST00000323926.6_Silent_p.L1840L|FN1_ENST00000432072.2_Silent_p.L1750L			P02751	FINC_HUMAN	fibronectin 1	1841	Binds to FBLN1.|Fibronectin type-III 14.|Heparin-binding 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATATCCAGTGAGCTGAACAT	0.527000													31	6					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408925	79408925	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:79408925G>A	ENST00000307745.7	+	9	550	c.550G>A	c.(550-552)Gtg>Atg	p.V184M																								CTTCCCCAGCGTGGCCCGGGC	0.682000													18	106					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173931017	173931017	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:173931017C>T	ENST00000367696.2	-	12	2399	c.2048G>A	c.(2047-2049)aGa>aAa	p.R683K	RC3H1_ENST00000258349.4_Missense_Mutation_p.R683K|RC3H1_ENST00000367694.2_Missense_Mutation_p.R683K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	683	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TATCTCTTCTCTTGTGTAAGA	0.478000													145	13					0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35250926	35250926	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:35250926C>T	ENST00000373366.2	+	2	1178	c.563C>T	c.(562-564)aCc>aTc	p.T188I	GJB3_ENST00000373362.3_Missense_Mutation_p.T188I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	188					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AAAATCTTCACCTACTTCATG	0.597000													9	48					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96222874	96222874	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr4:96222874C>G	ENST00000453304.1	-	3	721	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	UNC5C_ENST00000504962.1_Missense_Mutation_p.E125Q|UNC5C_ENST00000506749.1_Missense_Mutation_p.E125Q	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	125	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCGAAATCTCAATGCTCACT	0.453000													19	21					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779605	133779605	+	Missense_Mutation	SNP	T	T	G	rs146335615	by1000genomes	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:133779605T>G	ENST00000372338.4	-	7	1474	c.1232A>C	c.(1231-1233)tAc>tCc	p.Y411S	FIBCD1_ENST00000372337.2_Missense_Mutation_p.Y253S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.Y411S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	411	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCAGTTGCGGTACCACCAGGC	0.637000													15	71					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355828	34355828	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:34355828A>T	ENST00000383263.5	+	3	1580	c.910A>T	c.(910-912)Agc>Tgc	p.S304C	CHRM5_ENST00000557872.1_Missense_Mutation_p.S304C	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	304					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CACCACCTGTAGCAGCTACCC	0.592000													10	59					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136152409	136152409	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:136152409T>A	ENST00000383202.2	-	16	1895	c.1639A>T	c.(1639-1641)Acc>Tcc	p.T547S	STAG1_ENST00000434713.2_Missense_Mutation_p.T321S|STAG1_ENST00000536929.1_Missense_Mutation_p.T131S|STAG1_ENST00000236698.5_Missense_Mutation_p.T547S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	547					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CTCTTGCCGGTACCCCTTCCC	0.383000													24	49					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902645	247902645	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:247902645C>T	ENST00000283225.2	+	1	729	c.729C>T	c.(727-729)ctC>ctT	p.L243L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGCCTCACCTCATTGTTGTCA	0.413000													34	2					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915932	45915932	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:45915932G>A	ENST00000407215.3	-	6	984	c.903C>T	c.(901-903)tgC>tgT	p.C301C	SCRN2_ENST00000584123.1_Silent_p.C309C|SCRN2_ENST00000290216.9_Silent_p.C301C			Q96FV2	SCRN2_HUMAN	secernin 2	301					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GAAAGTGCACGCAGGGCTGCG	0.587000													14	107					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162847	91162847	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:91162847A>T	ENST00000546318.1	+	2	2009	c.722A>T	c.(721-723)gAg>gTg	p.E241V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.E272V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	272					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAAGCTCTTGAGTTATTAAAA	0.433000													71	37					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942884	154942884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:154942884G>T	ENST00000448116.2	-	1	339	c.119C>A	c.(118-120)tCa>tAa	p.S40*	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Nonsense_Mutation_p.S40*	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	40					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCAGGGATGAAGCTGATGG	0.627000													7	34					0.00198382	0.00201325	1	1	0
RBM8A	9939	broad.mit.edu	37	1	145508513	145508513	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:145508513G>C	ENST00000330165.8	+	4	313	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	RBM8A_ENST00000369307.3_Missense_Mutation_p.E81Q	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A		RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAGTCCATGAGGAAGCCAC	0.468000													66	3					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042460	170042460	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:170042460A>G	ENST00000263816.3	-	50	9683	c.9398T>C	c.(9397-9399)tTc>tCc	p.F3133S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3133	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGAACAATAGAAACTGGTTAA	0.443000													44	46					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22856793	22856793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:22856793C>G	ENST00000376573.4	-	6	893	c.665G>C	c.(664-666)aGt>aCt	p.S222T	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.S82T|PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.S163T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	222	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTCTTTGTCACTAGCTTCTCT	0.443000													12	73					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936541	4936541	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:4936541G>A	ENST00000322013.3	-	1	381	c.353C>T	c.(352-354)tCt>tTt	p.S118F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTAGCACAGAGGACTCGAG	0.502000													17	2					0	0	1	0	0
LY6H	4062	broad.mit.edu	37	8	144240320	144240320	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:144240320C>T	ENST00000414417.2	-	4	383	c.150G>A	c.(148-150)caG>caA	p.Q50Q	LY6H_ENST00000342752.4_Silent_p.Q50Q|LY6H_ENST00000430474.2_Silent_p.Q29Q	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	29	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGTGCAGTCCTGGCACCACA	0.667000													17	20					0	0	1	0	0
NAA38	51691	broad.mit.edu	37	7	117828407	117828407	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:117828407C>T	ENST00000424702.1	+	3	228	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	NAA38_ENST00000249299.2_Nonsense_Mutation_p.Q50*|NAA38_ENST00000422760.1_Nonsense_Mutation_p.Q29*			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	50					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CAGCTCTTCACAGGGGGTAGA	0.343000													17	77					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15344035	15344035	+	Splice_Site	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:15344035C>G	ENST00000333590.4	-	3	933		c.e3+1		PIGA_ENST00000542278.1_Splice_Site|PIGA_ENST00000428964.1_Splice_Site|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTCATCAATACCTGTCATGCA	0.388000													38	61					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	C	T	rs141730559		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:48347200C>T	ENST00000319856.4	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTTGAACTTCCTCATGCTGG	0.522000													35	15					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4702297	4702297	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:4702297C>T	ENST00000540757.2	+	4	408	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DYRK4_ENST00000010132.5_Missense_Mutation_p.T83M|DYRK4_ENST00000543431.1_Missense_Mutation_p.T83M	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	83						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTAGCAAGACGAGTTTTGAT	0.522000													11	19					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17319052	17319052	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:17319052C>T	ENST00000452699.1	-	17	1948	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	ATP13A2_ENST00000326735.8_Missense_Mutation_p.D592N|ATP13A2_ENST00000341676.5_Missense_Mutation_p.D587N|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	592					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AATGCTGAGTCTGCAGCCGGC	0.607000													37	58					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988353	45988353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:45988353G>A	ENST00000458629.1	+	1	1843	c.380G>A	c.(379-381)cGt>cAt	p.R127H	FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.R127H|CXCR6_ENST00000438735.1_Missense_Mutation_p.R127H|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.R127H			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	127					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTGTGGATCGTTTCATTGTA	0.517000													8	246					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109186002	109186002	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:109186002C>G	ENST00000326470.5	-	13	2131	c.1986G>C	c.(1984-1986)tgG>tgC	p.W662C	SSH1_ENST00000326495.5_Intron|SSH1_ENST00000360239.3_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.W651C	NM_001161331.1	NP_001154803.1	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	0					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ctgaggtaggCCAATTAGAGT	0.582000													4	10					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555163	41555163	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:41555163C>T	ENST00000378142.4	+	3	561	c.277C>T	c.(277-279)Cta>Tta	p.L93L	CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Silent_p.L93L|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	93						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TCAAATTTATCTACTTAACGT	0.393000													75	60					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036251	153036251	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:153036251G>T	ENST00000538966.1	+	12	2389	c.2118G>T	c.(2116-2118)caG>caT	p.Q706H	PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q336H|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q293H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q683H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	683					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGCCCACAGGTCGAAGGCC	0.632000													5	33					2.0095e-06	2.10168e-06	1	1	0
POMGNT1	55624	broad.mit.edu	37	1	46662485	46662485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:46662485C>T	ENST00000396420.3	-	4	908	c.272G>A	c.(271-273)aGa>aAa	p.R91K	POMGNT1_ENST00000535522.1_Missense_Mutation_p.R69K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R91K|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R91K|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R91K			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	91					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCACTGCCTCTGCGCCGTGG	0.617000													37	48					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945819	88945819	+	Silent	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:88945819G>C	ENST00000556564.1	-	13	2240	c.1956C>G	c.(1954-1956)ctC>ctG	p.L652L	PTPN21_ENST00000328736.3_Silent_p.L652L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	652						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCGCTCCTTGAGCCGCAGGC	0.711000													18	12					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96125185	96125185	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:96125185G>A	ENST00000458427.1	+	1	2028	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.D458N	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	458					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AGGCCAGGCAGATGAATCCAG	0.403000													26	30					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122018804	122018804	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:122018804G>C	ENST00000377071.4	-	1	85	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	KDM2B_ENST00000538046.2_Missense_Mutation_p.Q5E|RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000536437.1_5'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	5					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.Q5E(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCCCCATTTGCGGACCCGCC	0.463000													4	132					0	0	1	0	0
AL133373.1	0	broad.mit.edu	37	14	92040815	92040815	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:92040815C>T	ENST00000596306.1	-	1	568	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K																								GATCCGAGTTCTTGTTCCCCG	0.617000													9	23					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405106	139405106	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:139405106G>A	ENST00000277541.6	-	17	2814	c.2739C>T	c.(2737-2739)ccC>ccT	p.P913P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	913	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTACTCACTGGGCCGGCAGT	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	6					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54954194	54954194	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:54954194G>A	ENST00000173898.7	+	11	1970	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	TRO_ENST00000375041.2_Missense_Mutation_p.V223I|TRO_ENST00000420798.2_Missense_Mutation_p.V151I|TRO_ENST00000319167.8_Missense_Mutation_p.V620I|TRO_ENST00000375022.4_Missense_Mutation_p.V620I|TRO_ENST00000399736.1_Missense_Mutation_p.V223I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	620	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAAGATGAAAGTCCTCAAGTT	0.537000													3	13					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47045006	47045006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:47045006C>T	ENST00000377604.3	+	20	3074	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q701*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q700*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	778					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CATCCGGCACCAGCAGCTCTC	0.642000													7	2					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2130277	2130277	+	Nonsense_Mutation	SNP	C	C	A	rs45517296		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:2130277C>A	ENST00000219476.3	+	30	4139	c.3509C>A	c.(3508-3510)tCa>tAa	p.S1170*	TSC2_ENST00000353929.4_Nonsense_Mutation_p.S1127*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.S1137*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.S1078*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.S1090*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.S1170*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.S1126*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1170					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGAAGGCCTCAGCTGGCACC	0.672000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	68					0.00621372	0.00628725	1	1	0
SLC16A9	220963	broad.mit.edu	37	10	61413875	61413875	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:61413875G>A	ENST00000395348.3	-	5	1545	c.909C>T	c.(907-909)aaC>aaT	p.N303N	SLC16A9_ENST00000395347.1_Silent_p.N303N	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	303					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAAATACTTTGTTTTTAAAAA	0.373000													14	49					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461693	119461693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:119461693G>A	ENST00000450136.1	+	2	1833	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.D558N|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	558					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGTAGGCCCTGATGGGCAGCT	0.562000													20	11					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997260	66997260	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:66997260G>A	ENST00000303334.4	+	2	332	c.261G>A	c.(259-261)gtG>gtA	p.V87V	CES3_ENST00000394037.1_Silent_p.V87V	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	87						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGGTGTGCGGGATGCCA	0.637000													17	50					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153174257	153174257	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:153174257G>A	ENST00000285900.5	+	14	2690	c.2347G>A	c.(2347-2349)Gac>Aac	p.D783N	GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.D793N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D703N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D714N|GRIA1_ENST00000340592.5_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	783					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGGTACGACAAGGGCGA	0.443000													14	14					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90491236	90491236	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:90491236C>G	ENST00000369393.3	-	10	1640	c.1525G>C	c.(1525-1527)Gag>Cag	p.E509Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E509Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	509					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGATGTTTCTCTCCAGTAAGT	0.433000													4	68					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360362	50360362	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:50360362G>A	ENST00000391842.1	+	6	859	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.R198Q|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.R198Q|PTOV1_ENST00000599732.1_Missense_Mutation_p.R230Q|PTOV1_ENST00000600603.1_Missense_Mutation_p.R198Q|PTOV1_ENST00000601675.1_Missense_Mutation_p.R230Q	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	230	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGTGCCATCCGGCAGGTCATC	0.622000													51	185					0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448494	45448494	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:45448494G>C	ENST00000419266.2	+	3	356	c.316G>C	c.(316-318)Gac>Cac	p.D106H	APOC4_ENST00000592954.1_Missense_Mutation_p.D106H|APOC4-APOC2_ENST00000589057.1_Intron			P55056	APOC4_HUMAN	apolipoprotein C-IV						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CGAATCCAAAGACAGCCTCTT	0.572000													49	159					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52403014	52403014	+	Missense_Mutation	SNP	G	G	A	rs146074751	by1000genomes	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:52403014G>A	ENST00000361377.4	-	3	219	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	MOCS2_ENST00000527216.1_Missense_Mutation_p.R55C|MOCS2_ENST00000508922.1_Missense_Mutation_p.R60C|MOCS2_ENST00000450852.3_Missense_Mutation_p.R60C|MOCS2_ENST00000584946.1_Missense_Mutation_p.R60C|MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000510818.2_Missense_Mutation_p.R60C|MOCS2_ENST00000582677.1_Missense_Mutation_p.R60C			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	60					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TATTCTTGACGAACAGCAAAT	0.433000													16	9					0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37100312	37100312	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:37100312A>T	ENST00000421307.1	-	26	2261	c.1839T>A	c.(1837-1839)aaT>aaA	p.N613K	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.N316K|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.N292K|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.N395K|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.N613K|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.N316K	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	613					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGTCTGAGCCATTCTGCAGTC	0.498000													30	36					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147089	145147089	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:145147089C>T	ENST00000558170.2	-	10	4758	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	ZEB2_ENST00000539609.3_Missense_Mutation_p.D1168N|ZEB2_ENST00000409487.3_Missense_Mutation_p.D1192N|ZEB2_ENST00000303660.4_Missense_Mutation_p.D1192N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1192	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCGAACTATCGTCCATGGAG	0.418000													85	90					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	22					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92433781	92433781	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:92433781G>C	ENST00000370389.2	+	4	1114	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	BRDT_ENST00000402388.1_Missense_Mutation_p.E137Q|BRDT_ENST00000399546.2_Missense_Mutation_p.E137Q|BRDT_ENST00000362005.3_Missense_Mutation_p.E137Q|BRDT_ENST00000394530.3_Missense_Mutation_p.E91Q	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	137	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCCACAAGAAGAGCAAGTTGT	0.378000													17	27					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56208871	56208871	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:56208871G>A	ENST00000508342.1	-	1	458	c.159C>T	c.(157-159)ccC>ccT	p.P53P	NEDD4_ENST00000338963.2_Silent_p.P53P|NEDD4_ENST00000506154.1_Silent_p.P53P|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	53					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAGTCTGTCTGGGAGTCAGCT	0.423000													53	46					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52430897	52430897	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:52430897C>T	ENST00000420323.2	+	73	11885	c.11624C>T	c.(11623-11625)aCg>aTg	p.T3875M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3940	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCAAGTACACGGCAGGGGAG	0.612000													14	36					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr8:133187774G>T	ENST00000388996.4	-	5	1279	c.859C>A	c.(859-861)Cca>Aca	p.P287T	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P287T|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P167T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	287					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCACCTCTGGGACGTCTTTC	0.502000													28	39					9.80776e-20	1.10337e-19	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91667732	91667732	+	Splice_Site	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:91667732G>A	ENST00000359028.2	+	18	4599		c.e18-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATTTCTTTAGGTTATTGTGT	0.303000			T	BRAF	papillary thyroid								22	24					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998058	56998058	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:56998058A>G	ENST00000179765.5	-	17	3090	c.2891T>C	c.(2890-2892)cTg>cCg	p.L964P	BAZ2A_ENST00000551812.1_Missense_Mutation_p.L996P|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L966P|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L994P			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	996					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATACTCTCCAGAGTCTTGTC	0.507000													11	12					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036889	102036889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:102036889C>T	ENST00000496391.1	+	5	1341	c.31C>T	c.(31-33)Cca>Tca	p.P11S	PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000482465.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P11S|PRKRIP1_ENST00000354783.4_5'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	11	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CTCGGTGCGACCACCGAGGCC	0.662000													9	12					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76901909	76901909	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:76901909T>G	ENST00000409709.3	+	30	4190	c.3918T>G	c.(3916-3918)ttT>ttG	p.F1306L	MYO7A_ENST00000409619.2_Missense_Mutation_p.F1295L|MYO7A_ENST00000458637.2_Missense_Mutation_p.F1306L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1306	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCCCTGTTTGACAAGGTAT	0.637000													3	5					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475342	29475342	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:29475342C>G	ENST00000373795.4	-	6	1299	c.1065G>C	c.(1063-1065)aaG>aaC	p.K355N	SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	355	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						tcttcctgcccttcctcttgt	0.647000													3	15					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227923158	227923158	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:227923158G>A	ENST00000366759.4	+	1	462	c.48G>A	c.(46-48)ccG>ccA	p.P16P	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Silent_p.P16P	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	16						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCGAGCGGCCGAGGCGCCGCG	0.761000													9	0					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	27					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17131267	17131267	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:17131267C>A	ENST00000285071.4	-	4	639	c.185G>T	c.(184-186)aGc>aTc	p.S62I	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.S62I	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	62					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTCTGCGGGGCTGTGCGCACG	0.607000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				23	24					7.88262e-20	8.89722e-20	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77918652	77918652	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:77918652C>A	ENST00000302536.2	+	7	1183	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	344							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCTCTACAACCAGAAGAAGAT	0.488000													7	6					5.18039e-06	5.40151e-06	1	1	0
TEF	7008	broad.mit.edu	37	22	41790148	41790148	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr22:41790148A>G	ENST00000266304.4	+	3	640	c.524A>G	c.(523-525)aAt>aGt	p.N175S	TEF_ENST00000406644.3_Missense_Mutation_p.N145S	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	175	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ATCGACCCCAATTGTGTGGAA	0.567000													34	56					0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43585084	43585084	+	Missense_Mutation	SNP	C	C	G	rs139426649		TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:43585084C>G	ENST00000372813.3	-	2	322	c.170G>C	c.(169-171)cGa>cCa	p.R57P	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	57					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	p.R57L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ACATGCTGCTCGGTTGGAGTA	0.483000													65	87					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777258	201777258	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:201777258G>A	ENST00000367296.4	+	18	4246	c.3826G>A	c.(3826-3828)Gtg>Atg	p.V1276M	NAV1_ENST00000367300.3_Missense_Mutation_p.V1216M|NAV1_ENST00000367295.1_Missense_Mutation_p.V882M|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.V1268M|NAV1_ENST00000367302.1_Missense_Mutation_p.V1229M|NAV1_ENST00000295624.6_Missense_Mutation_p.V1273M	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1276					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						CTCGTCCTCCGTGGGCACTGA	0.562000													53	5					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947102	105947102	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:105947102G>C	ENST00000357060.3	-	14	1951	c.1836C>G	c.(1834-1836)atC>atG	p.I612M	WDR96_ENST00000428666.1_Missense_Mutation_p.I613M|WDR96_ENST00000278064.2_Missense_Mutation_p.I543M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	612										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGTAGCTACAGATGTATGGCA	0.393000													13	36					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865791	12865791	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:12865791G>T	ENST00000549706.1	+	5	906	c.582G>T	c.(580-582)caG>caT	p.Q194H	BEST2_ENST00000042931.1_Missense_Mutation_p.Q194H|BEST2_ENST00000553030.1_Missense_Mutation_p.Q194H			Q8NFU1	BEST2_HUMAN	bestrophin 2	194					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TGGCGGCACAGGCCCGACGCG	0.572000													9	12					2.17888e-05	2.25811e-05	1	1	0
GLB1L2	89944	broad.mit.edu	37	11	134244528	134244528	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:134244528C>T	ENST00000535456.2	+	18	1928	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	GLB1L2_ENST00000339772.7_Silent_p.G580G|GLB1L2_ENST00000389881.3_Silent_p.G580G|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCATCAATGGCCAGAACCTTG	0.547000													54	62					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644366	70644366	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:70644366C>T	ENST00000298596.6	+	3	897	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F	STOX1_ENST00000399169.4_Missense_Mutation_p.L272F|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.L162F|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	272						cytoplasm|nucleolus	DNA binding	p.L272I(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCACAGAGGTCTTGGGGAATC	0.498000													23	69					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115431	15115431	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr3:15115431A>G	ENST00000253699.3	-	14	2826	c.2213T>C	c.(2212-2214)cTc>cCc	p.L738P	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L738P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	738	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGCAGGAGGAGCTCTTCCTC	0.552000													15	76					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137536861	137536861	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr5:137536861G>C	ENST00000394886.2	-	6	619	c.589C>G	c.(589-591)Cat>Gat	p.H197D		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	197					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCAAAACATGAGTAGCTTCC	0.423000													33	41					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13410643	13410643	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:13410643C>A	ENST00000278174.5	-	9	1408	c.1163G>T	c.(1162-1164)cGc>cTc	p.R388L	BTBD10_ENST00000530907.1_Missense_Mutation_p.R396L|BTBD10_ENST00000528120.1_Missense_Mutation_p.R340L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	388						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CACTTCTGGGCGGCCTCCAGG	0.428000													4	53					0.014758	0.0148448	1	1	0
TRDMT1	1787	broad.mit.edu	37	10	17195596	17195596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:17195596C>G	ENST00000377799.3	-	10	1032	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000488990.1_Missense_Mutation_p.E206Q|TRDMT1_ENST00000412821.3_Missense_Mutation_p.E305Q|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.E248Q|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.E283Q	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	329					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						ATCTGTTCTTCTTGTGACAAA	0.348000													20	10					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853548	35853548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:35853548G>A	ENST00000377988.2	+	13	2418	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	TMEM8B_ENST00000377991.4_Missense_Mutation_p.R377H	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	377					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCCACGTGGCGCCGCTGGCTT	0.602000													28	7					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123737191	123737191	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:123737191C>T	ENST00000223642.1	-	30	3912	c.3883G>A	c.(3883-3885)Gag>Aag	p.E1295K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1295					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGCCCTCAATGGCATTG	0.378000													66	60					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23632744	23632744	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr16:23632744C>T	ENST00000261584.4	-	10	3204	c.3052G>A	c.(3052-3054)Gag>Aag	p.E1018K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1018	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCTTGGACCTCAGCAAAAGTT	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					18	60					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146680603	146680603	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:146680603C>A	ENST00000254090.4	-	6	1029	c.641G>T	c.(640-642)aGc>aTc	p.S214I	FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Missense_Mutation_p.S214I|FMO5_ENST00000441068.2_Missense_Mutation_p.S214I|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	214						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TCTCCTGGTGCTGAGGAAAAC	0.448000													9	31					3.86212e-05	3.99047e-05	1	1	0
NUP214	8021	broad.mit.edu	37	9	134020058	134020058	+	Silent	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:134020058G>A	ENST00000359428.5	+	12	1830	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V562V|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Silent_p.V562V|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	562	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCACACCAGTGCCAAGTGTGT	0.507000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	34					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44612069	44612069	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr19:44612069C>T	ENST00000336976.6	+	6	2010	c.1756C>T	c.(1756-1758)Cat>Tat	p.H586Y	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	586					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCTTCATTCTCATCAAAGAGT	0.453000													50	93					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132190591	132190591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:132190591G>A	ENST00000360971.2	+	13	1387	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	456	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTGCAGCTCGATTGAGACCC	0.353000													39	70					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77916913	77916913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:77916913G>A	ENST00000529308.1	+	7	1484	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	USP35_ENST00000526425.1_Missense_Mutation_p.R139H|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	408					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R408H(1)|p.R164H(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AATGAGGACCGCATCAAGCAG	0.582000													5	131					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32146636	32146636	+	Silent	SNP	G	G	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:32146636G>T	ENST00000373672.3	-	38	3087	c.2571C>A	c.(2569-2571)ctC>ctA	p.L857L	COL16A1_ENST00000373668.3_Silent_p.L857L|COL16A1_ENST00000271069.6_Silent_p.L856L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	857	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTGTTCCTCTGAGTCCCGTCT	0.627000													16	18					1.45105e-14	1.60084e-14	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24885206	24885206	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:24885206C>T	ENST00000382554.3	+	9	4569	c.4251C>T	c.(4249-4251)ctC>ctT	p.L1417L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1417					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TTATATCCCTCACCTCTGGCC	0.612000													40	11					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17378626	17378626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr7:17378626G>A	ENST00000242057.4	+	10	1820	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	393					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GGAAGGAACAGAGCATTTACG	0.308000													41	99					0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152915712	152915712	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:152915712C>G	ENST00000342782.3	+	4	1372	c.1107C>G	c.(1105-1107)ttC>ttG	p.F369L	DUSP9_ENST00000370167.4_Missense_Mutation_p.F369L			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	369	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCCTCCTTCTTCACCACCC	0.721000													19	29					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250845	36250845	+	Silent	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:36250845G>C	ENST00000315571.5	+	6	957	c.936G>C	c.(934-936)ctG>ctC	p.L312L	LDLRAD3_ENST00000528989.1_Silent_p.L263L|LDLRAD3_ENST00000524419.1_Silent_p.L302L	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	312						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GCAGCCTCCTGAGCGTGGAAG	0.667000													67	15					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903711	90903711	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:90903711C>A	ENST00000354377.3	+	4	834	c.648C>A	c.(646-648)ttC>ttA	p.F216L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGAAGAAATTCAGCGACAGCT	0.522000													27	14					3.1745e-13	3.46862e-13	1	1	0
ZDHHC14	79683	broad.mit.edu	37	6	158014053	158014053	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr6:158014053G>A	ENST00000359775.5	+	3	1329	c.440G>A	c.(439-441)cGc>cAc	p.R147H	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.R147H|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	147						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGGGGGTACCGCCCGCCTCCC	0.567000													14	71					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562265	95562265	+	Silent	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:95562265C>T	ENST00000526495.1	-	25	5283	c.4992G>A	c.(4990-4992)tcG>tcA	p.S1664S	DICER1_ENST00000541352.1_Silent_p.S1664S|DICER1_ENST00000393063.1_Silent_p.S1664S|DICER1_ENST00000527414.1_Silent_p.S1664S|DICER1_ENST00000343455.3_Silent_p.S1664S|DICER1_ENST00000556045.1_Silent_p.S562S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1664					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTTCAAACCCCGATATAAGGT	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				4	89					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119419724	119419724	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:119419724G>C	ENST00000267260.4	+	1	425	c.37G>C	c.(37-39)Gag>Cag	p.E13Q		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	13					cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCAGCTTTTTGAGAAGTTCTG	0.607000													11	16					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111660814	111660814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:111660814C>T	ENST00000286692.4	-	9	1386	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	DRAM2_ENST00000539140.1_Missense_Mutation_p.E257K|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	257					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						CGTGTTCGTTCATTGTTAATA	0.363000													34	58					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112043173	112043173	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:112043173T>C	ENST00000241356.4	-	2	761	c.356A>G	c.(355-357)aAg>aGg	p.K119R	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	119					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGTGACCCTCTTGTATCTGTG	0.502000													40	47					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76877197	76877197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:76877197G>C	ENST00000409709.3	+	15	2058	c.1786G>C	c.(1786-1788)Gat>Cat	p.D596H	MYO7A_ENST00000409619.2_Missense_Mutation_p.D585H|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596H|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTCCAGGCCGATGTCGCCAT	0.587000													16	19					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102984333	102984333	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr11:102984333A>T	ENST00000375735.2	+	2	407	c.263A>T	c.(262-264)gAt>gTt	p.D88V	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D88V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D88V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	88	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTAATTACTGATGAGAATCTA	0.343000													33	52					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27088787	27088788	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:27088787_27088788insGG	ENST00000324856.7	+	7	2767_2768	c.2396_2397insGG	c.(2395-2400)caggggfs	p.QG799fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.QG416fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.QG799fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	799					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGTCCCCAGGGGGGTCAGT	0.554			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								17	36	---	---	---	---					
CHIAP2	149620	broad.mit.edu	37	1	111825531	111825532	+	RNA	INS	-	-	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:111825531_111825532insT	ENST00000369743.4	+	0	1147					NR_003928.1																						GGTTAATTTAATTCAGTGTCAT	0.401													4	6	---	---	---	---					
UBE2T	29089	broad.mit.edu	37	1	202302605	202302614	+	Frame_Shift_Del	DEL	ACAAATCCTT	ACAAATCCTT	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr1:202302605_202302614delACAAATCCTT	ENST00000367274.4	-	4	398_407	c.249_258delAAGGATTTGT	c.(247-258)ggaaggatttgtfs	p.GRIC83fs		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	83					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						GAACATCCAGACAAATCCTTCCAGCAGAAT	0.367													9	70	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													7	198	---	---	---	---					
ATG4B	23192	broad.mit.edu	37	2	242610144	242610144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr2:242610144delT	ENST00000405546.3	+	11	1463	c.961delT	c.(961-963)tttfs	p.F322fs	ATG4B_ENST00000404914.3_Frame_Shift_Del_p.F322fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.F248fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.F308fs|ATG4B_ENST00000402096.1_Frame_Shift_Del_p.F248fs			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	322					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GTTTTAGGGGTTTTTCTGTAA	0.552													2	4	---	---	---	---					
C9orf139	401563	broad.mit.edu	37	9	139927526	139927526	+	Frame_Shift_Del	DEL	G	G	-	rs146351195	byFrequency	TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr9:139927526delG	ENST00000314330.2	+	2	1525	c.11delG	c.(10-12)cggfs	p.R4fs		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	4										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		ATGGCCCTGCGGGGTCACCCT	0.662													18	52	---	---	---	---					
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162373	+	Translation_Start_Site	DEL	GATG	GATG	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr10:96162370_96162373delGATG	ENST00000225235.4	+	0	110_113					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTCCGG	0.701													10	12	---	---	---	---					
DYRK4	8798	broad.mit.edu	37	12	4708892	4708892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr12:4708892delA	ENST00000540757.2	+	8	879	c.719delA	c.(718-720)caafs	p.Q240fs	DYRK4_ENST00000010132.5_Frame_Shift_Del_p.Q240fs|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.Q240fs	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	240	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTGCTATACCAAAAGGGCCAA	0.438													22	46	---	---	---	---					
PPP2R5C	5527	broad.mit.edu	37	14	102372770	102372777	+	Frame_Shift_Del	DEL	ATGAATAC	ATGAATAC	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr14:102372770_102372777delATGAATAC	ENST00000422945.2	+	12	1244_1251	c.1148_1155delATGAATAC	c.(1147-1155)aatgaatacfs	p.NEY383fs	PPP2R5C_ENST00000557095.1_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000334743.5_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Del_p.NEY352fs|PPP2R5C_ENST00000328724.5_Frame_Shift_Del_p.NEY407fs	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	352					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TACTGGAATAATGAATACATCATGAGTT	0.457													17	93	---	---	---	---					
TJP1	7082	broad.mit.edu	37	15	30058469	30058471	+	Splice_Site	DEL	CTT	CTT	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:30058469_30058471delCTT	ENST00000346128.6	-	5	1061_1063	c.587_589delAAG	c.(586-591)gaagaa>gaa	p.196_197EE>E	TJP1_ENST00000400011.2_Splice_Site_p.200_201EE>E|TJP1_ENST00000356107.6_Splice_Site_p.196_197EE>E|TJP1_ENST00000545208.2_Splice_Site_p.196_197EE>E|TJP1_ENST00000495972.2_Splice_Site_p.196_197EE>E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	196	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGAGAATACCTTCATTTTTCCG	0.433													8	61	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													11	24	---	---	---	---					
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	RNA	DEL	T	T	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279													2	4	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													4	9	---	---	---	---					
RNF128	79589	broad.mit.edu	37	X	106034389	106034390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-AA76-01A-11D-A391-08	TCGA-DK-AA76-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d7f54ff-5587-430f-ac18-78d6ae8e2a88	52d67666-5860-4b42-9a85-fa67701df2fe	g.chrX:106034389_106034390insA	ENST00000255499.2	+	6	1328_1329	c.1078_1079insA	c.(1078-1080)gagfs	p.E360fs	RNF128_ENST00000324342.3_Frame_Shift_Ins_p.E334fs	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	360						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TAATCGCAGCGAGACCGCATCA	0.441													28	160	---	---	---	---					
