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
RAMP1	10267	broad.mit.edu	37	2	238785964	238785964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:238785964G>A	ENST00000254661.4	+	2	283	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	RAMP1_ENST00000404910.2_Missense_Mutation_p.V29I|RAMP1_ENST00000409726.1_Missense_Mutation_p.V29I|RAMP1_ENST00000403885.1_Missense_Mutation_p.V29I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	51					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CATGGAGGCCGTCGGGGAGAC	0.652000													4	79					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916386	97916386	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:97916386G>A	ENST00000534948.1	+	0	1164							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCATAAGTCTGAGAGAGCTGA	0.363000													35	34					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66601094	66601094	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:66601094G>A	ENST00000319194.5	+	4	482	c.221G>A	c.(220-222)aGg>aAg	p.R74K	DIS3L_ENST00000441424.2_Missense_Mutation_p.R23K|DIS3L_ENST00000319212.4_Missense_Mutation_p.R157K	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	157					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCCAGGACAGGATGCCAATT	0.448000													19	85					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39308344	39308344	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:39308344C>G	ENST00000263408.4	-	8	1323	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	410	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTCTACCCTCTCCCCTCTTT	0.428000													30	43					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166786745	166786745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:166786745C>G	ENST00000243344.7	-	9	1161	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	342						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAGTGCCTCTTTAACTCTT	0.358000													20	47					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													3	28					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349162	243349162	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:243349162G>T	ENST00000366542.1	-	10	1536	c.1485C>A	c.(1483-1485)gaC>gaA	p.D495E	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	495						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTCACTTTGGTCATCATCAT	0.378000													29	58					2.85442e-18	3.30972e-18	1	1	0
VNN2	8875	broad.mit.edu	37	6	133072577	133072577	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:133072577C>T	ENST00000326499.6	-	5	1031	c.907G>A	c.(907-909)Gag>Aag	p.E303K	VNN2_ENST00000525270.1_Missense_Mutation_p.E250K|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	303	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAATCCACCTCTGAAAGGAGA	0.438000													12	91					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		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)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	51					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	322205	322205	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:322205C>T	ENST00000390665.3	-	2	463	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	149					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)				AAGGTGCTCTCGATCTTGCTG	0.652000													15	19					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165012	79165012	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:79165012C>T	ENST00000269392.4	-	22	3002	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	AZI1_ENST00000575907.1_Missense_Mutation_p.E883K|AZI1_ENST00000374782.3_Missense_Mutation_p.E880K|AZI1_ENST00000450824.2_Missense_Mutation_p.E916K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	919					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGCCTTCTCACTCTCCTCC	0.642000													11	64					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	33					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8483358	8483358	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:8483358C>G	ENST00000447869.1	-	4	1470	c.552G>C	c.(550-552)acG>acC	p.T184T	STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Silent_p.T143T|STK33_ENST00000396673.1_Silent_p.T184T|STK33_ENST00000396672.1_Silent_p.T184T|STK33_ENST00000315204.1_Silent_p.T184T			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	184	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTACCTTTGGCGTTTCAAATA	0.378000													5	35					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087014	55087014	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:55087014T>C	ENST00000251377.3	+	6	1080	c.947T>C	c.(946-948)aTc>aCc	p.I316T	LILRA2_ENST00000391737.1_Missense_Mutation_p.I304T|LILRA2_ENST00000391738.3_Missense_Mutation_p.I316T|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.I316T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GACATCCTGATCACAGGTGAG	0.667000													5	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059813	9059813	+	Silent	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9059813C>A	ENST00000397910.4	-	3	27836	c.27633G>T	c.(27631-27633)ctG>ctT	p.L9211L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9213	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGATGGCCAGTATTTCAG	0.488000													4	56					2.74837e-29	3.22635e-29	1	1	0
MX1	4599	broad.mit.edu	37	21	42813654	42813654	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr21:42813654A>C	ENST00000398600.2	+	12	1767	c.742A>C	c.(742-744)Aag>Cag	p.K248Q	MX1_ENST00000455164.2_Missense_Mutation_p.K248Q|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.K248Q|MX1_ENST00000288383.6_Missense_Mutation_p.K225Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	248					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCTTGACGAAGCCTGATCT	0.557000													30	52					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44768478	44768478	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:44768478C>A	ENST00000334152.1	+	3	274	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_5'UTR|ZNF233_ENST00000391958.2_5'UTR|ZNF233_ENST00000589522.1_5'UTR			A6NK53	ZN233_HUMAN	zinc finger protein 233	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCTGCCTTCCCAGGACCCTGC	0.478000													10	21					0.010729	0.010961	1	1	0
NRROS	375387	broad.mit.edu	37	3	196388563	196388563	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:196388563G>C	ENST00000328557.4	+	3	2252	c.2049G>C	c.(2047-2049)aaG>aaC	p.K683N		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		AGGTCATCAAGAGCCGCTGCC	0.557000													45	115					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33145259	33145259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:33145259G>A	ENST00000373493.5	+	12	1390	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	RBBP4_ENST00000544435.1_Missense_Mutation_p.D159N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D376N|RBBP4_ENST00000414241.3_Missense_Mutation_p.D410N|RBBP4_ENST00000373485.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	411					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CATTTATAATGATGAAGACCC	0.393000													15	27					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67431210	67431210	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:67431210C>T	ENST00000349015.3	-	9	1334	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R299Q	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	299					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GCTGCTGGTCCGCTCCAGCAT	0.602000													18	18					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87454250	87454250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:87454250C>T	ENST00000268616.4	-	5	719	c.502G>A	c.(502-504)Gtg>Atg	p.V168M		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	168					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTCGCTCCACATAAAATGCG	0.562000													9	12					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2218973	2218973	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:2218973G>A	ENST00000344595.5	+	2	437	c.119G>A	c.(118-120)cGc>cAc	p.R40H	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	40					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTAACAGGGCGCAATCTTTTC	0.378000													33	35					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175906	71175906	+	Silent	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:71175906G>T	ENST00000373306.4	-	1	717	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	58					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATGGGCCAGGATGATCCAGA	0.597000													17	15					5.01169e-05	5.32141e-05	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	20					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	596953	596953	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:596953C>G	ENST00000264555.5	+	7	779	c.651C>G	c.(649-651)ctC>ctG	p.L217L	PHRF1_ENST00000533464.1_Silent_p.L213L|PHRF1_ENST00000416188.2_Silent_p.L217L|PHRF1_ENST00000413872.2_Silent_p.L216L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	217							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCCCCCTCTCCAGGAGGTGC	0.612000													5	40					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482118	37482118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:37482118C>T	ENST00000374660.1	+	33	2834	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P793L|ANKRD30A_ENST00000475522.1_3'UTR|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P793L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	967						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTAGGCTCCCTGCAGAATG	0.269000													14	25					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35863113	35863113	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:35863113G>C	ENST00000314607.6	+	20	3246	c.3166G>C	c.(3166-3168)Gaa>Caa	p.E1056Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.E967Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1056					multicellular organismal development		DNA binding|zinc ion binding	p.E1056*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGATTGCAGAAGATGAAGA	0.363000													7	22					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83582187	83582187	+	Missense_Mutation	SNP	C	C	T	rs143531463		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:83582187C>T	ENST00000273908.4	-	4	847	c.613G>A	c.(613-615)Gca>Aca	p.A205T	SCD5_ENST00000319540.4_Intron	NM_024906.2	NP_079182.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	0					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCACACGCTGCCTCTTGATTG	0.418000													8	242					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249617	68249617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68249617C>G	ENST00000347230.4	-	21	4390	c.4252G>C	c.(4252-4254)Gag>Cag	p.E1418Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1418Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1418					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGGATTCCTCAAAAGCCTCA	0.537000													23	180					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32650271	32650271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:32650271G>T	ENST00000436190.2	+	3	473	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000300249.5_Nonsense_Mutation_p.E79*|MAPRE2_ENST00000538170.2_Intron|MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.E36*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.E36*	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	79	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAAAAGTGGAACAGCTTTG	0.353000													7	43					2.0095e-06	2.14573e-06	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142498864	142498864	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:142498864G>A	ENST00000466254.1	+	0	140																											GCTGGTGGGTGAATGGGAAGG	0.617000													10	78					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615648	105615648	+	Missense_Mutation	SNP	C	C	T	rs9972231	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:105615648C>T	ENST00000331782.3	-	13	2015	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	JAG2_ENST00000347004.2_Missense_Mutation_p.D500N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	538	EGF-like 9.		D -> N (in dbSNP:rs9972231).		auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.D538N(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCACAAAGGTCGACATCCACC	0.622000													5	103					0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737591	150737591	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:150737591C>T	ENST00000358849.4	+	11	1351	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	ABCB8_ENST00000356058.4_Missense_Mutation_p.P458L|ABCB8_ENST00000542328.1_Missense_Mutation_p.R332W|ABCB8_ENST00000498578.1_Missense_Mutation_p.R420W|ABCB8_ENST00000297504.6_Missense_Mutation_p.R437W	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	437	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGGTGGTCCGGGGGCTGAG	0.657000													20	37					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578153	67578153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:67578153C>T	ENST00000310421.4	-	1	1299	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	347	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGGAGCTGCTCCATGCAATAC	0.483000													60	74					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18320447	18320447	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:18320447G>A	ENST00000396253.3	-	9	1176	c.714C>T	c.(712-714)ctC>ctT	p.L238L	HPS5_ENST00000531848.1_Silent_p.L238L|HPS5_ENST00000438420.2_Silent_p.L238L|HPS5_ENST00000349215.3_Silent_p.L352L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	352						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATATCAGGGAGAGATGTGAGA	0.448000									Hermansky-Pudlak syndrome				22	90					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156509	94156509	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94156509T>C	ENST00000553484.1	+	47	7469	c.7315T>C	c.(7315-7317)Tgg>Cgg	p.W2439R	UNC79_ENST00000256339.4_Missense_Mutation_p.W2240R|UNC79_ENST00000555664.1_Missense_Mutation_p.W2378R|UNC79_ENST00000393151.2_Missense_Mutation_p.W2417R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2417						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGTTGTCCTGGCTGCTGCT	0.488000													17	165					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522455	23522455	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:23522455G>A	ENST00000296682.3	+	7	733	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TATAGCCTGCGAGAAAGAAAG	0.458000										HNSCC(3;0.000094)			23	403					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													3	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088537	9088537	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:9088537G>C	ENST00000397910.4	-	1	3481	c.3278C>G	c.(3277-3279)tCa>tGa	p.S1093*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1093	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGTGCTTGAGCCAGCAGC	0.433000													13	48					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277107	152277107	+	Nonsense_Mutation	SNP	G	G	A	rs143418984		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277107G>A	ENST00000368799.1	-	3	10290	c.10255C>T	c.(10255-10257)Cga>Tga	p.R3419*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3419	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597000									Ichthyosis				14	369					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33230104	33230104	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:33230104G>C	ENST00000327671.5	-	5	2062	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	FUT10_ENST00000524021.1_Missense_Mutation_p.F449L|FUT10_ENST00000518672.1_Missense_Mutation_p.F449L	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	477					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		ATCAGTCCTTGAATACTAGGC	0.373000													13	9					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58944775	58944775	+	Missense_Mutation	SNP	C	C	T	rs149025551	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:58944775C>T	ENST00000254166.3	-	3	2436	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	679						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGTCCTTTCTCTGGTGTGAAC	0.448000													14	54					0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58956681	58956681	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:58956681C>T	ENST00000227451.3	+	4	1148	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.L242L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	348					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGTGTGTCTCACCAGGCCAC	0.552000													7	22					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405553	94405553	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405553G>A	ENST00000555019.1	-	8	1948	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	ASB2_ENST00000315988.4_Silent_p.F458F	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	458					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGAGGCATGAGAAGCAGGGCT	0.697000													5	53					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23313973	23313973	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:23313973T>G	ENST00000311852.6	+	8	1546	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	429	Hemopexin-like 3.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AAAGACCTACTTCTTCCGTGG	0.542000													11	48					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704928	23704928	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:23704928C>G	ENST00000397312.2	-	4	749	c.475G>C	c.(475-477)Gac>Cac	p.D159H	ELAVL2_ENST00000380110.4_Missense_Mutation_p.D188H|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D159H|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D159H|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D159H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	159	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.D159N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTGACCTGGTCGACAAGAATA	0.423000													13	71					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													3	18					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30880454	30880454	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:30880454G>T	ENST00000265299.6	+	9	1512	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	479										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGCAAAGCCGACTGTGCTCA	0.488000													10	34					7.48243e-07	8.12747e-07	1	1	0
MYH14	79784	broad.mit.edu	37	19	50726572	50726572	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50726572C>T	ENST00000440075.2	+	5	706	c.659C>T	c.(658-660)tCg>tTg	p.S220L	MYH14_ENST00000262269.8_Missense_Mutation_p.S220L|MYH14_ENST00000601313.1_Missense_Mutation_p.S220L|MYH14_ENST00000598205.1_Missense_Mutation_p.S220L|MYH14_ENST00000596571.1_Missense_Mutation_p.S220L|MYH14_ENST00000425460.1_Missense_Mutation_p.S220L|MYH14_ENST00000376970.2_Missense_Mutation_p.S220L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	220	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACGTGGCGTCGTCTCCAAAG	0.622000													2	4					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048936	193048936	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:193048936T>G	ENST00000342358.4	-	12	1554	c.1437A>C	c.(1435-1437)caA>caC	p.Q479H		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	479					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGAGGTTTATTTGCCCACACA	0.433000													47	91					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079661	7079661	+	Silent	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:7079661A>G	ENST00000299481.4	+	8	2959	c.2613A>G	c.(2611-2613)caA>caG	p.Q871Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	871					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AACATGCACAATGTACTCTGA	0.348000													15	67					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043898	56043898	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:56043898A>G	ENST00000313033.2	+	1	870	c.784A>G	c.(784-786)Att>Gtt	p.I262V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGAGTGACAATTTATCATGG	0.418000													33	185					0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219527643	219527643	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219527643C>T	ENST00000431802.1	+	7	1626	c.927C>T	c.(925-927)ttC>ttT	p.F309F	BCS1L_ENST00000392109.1_Silent_p.F309F|BCS1L_ENST00000392110.2_Silent_p.F309F|BCS1L_ENST00000359273.3_Silent_p.F309F|BCS1L_ENST00000439945.1_Silent_p.F309F|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392111.2_Silent_p.F309F|BCS1L_ENST00000412366.1_Silent_p.F309F			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	309					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCACCTTCAGTGGACTGC	0.537000													30	70					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145627831	145627831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:145627831C>T	ENST00000296575.3	+	5	1635	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	327						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TACACAGTATCCAGGTATCAC	0.368000													9	23					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59857704	59857704	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:59857704G>C	ENST00000259008.2	-	13	2120	c.1853C>G	c.(1852-1854)tCa>tGa	p.S618*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.S618*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	618					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCATTGGTGATAATGTACC	0.303000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					15	40					0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105891639	105891639	+	Splice_Site	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:105891639C>T	ENST00000222553.3	-	11	1673	c.1365_splice	c.e11-1	p.D456_splice		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	456					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAGAAGATCCTGCATAAAT	0.333000													70	66					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619370	145619370	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:145619370C>T	ENST00000349769.3	-	34	3911	c.3817G>A	c.(3817-3819)Gac>Aac	p.D1273N	CPSF1_ENST00000531727.1_5'UTR|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1273					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGGTCGCGGTCAGACACTGGG	0.667000													5	36					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187604984	187604984	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:187604984A>T	ENST00000304698.5	+	2	471	c.268A>T	c.(268-270)Aat>Tat	p.N90Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	90						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGTCCAGGTGAATGACATCAT	0.388000													18	68					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605924	5605924	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrY:5605924C>T	ENST00000215473.6	+	6	3964	c.3964C>T	c.(3964-3966)Cgc>Tgc	p.R1322C				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1322					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTCGCTCCACGCCAACAGGC	0.408000													3	31					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141414206	141414206	+	Splice_Site	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:141414206G>T	ENST00000397541.2	+	2	945		c.e2+1		WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGGAGATCTGTAAGTGCTCT	0.368000													6	40					5.9392e-07	6.48849e-07	1	1	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													11	18					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278837	152278837	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152278837C>T	ENST00000368799.1	-	3	8560	c.8525G>A	c.(8524-8526)cGt>cAt	p.R2842H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567000									Ichthyosis				71	833					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816739	6816739	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:6816739C>A	ENST00000332601.3	-	1	389	c.201G>T	c.(199-201)atG>atT	p.M67I		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGAAAGGACATATTAGCTA	0.438000													14	51					7.93312e-07	8.56777e-07	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734	by1000genomes	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:102292767C>T	ENST00000561463.1	+	0	813																											CACAGCGGCGCGACGAGATGC	0.597000													3	22					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55072843	55072843	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:55072843C>T	ENST00000371316.3	+	14	1489	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.D469D	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	469	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ACGAGGACGACGCCATCTACC	0.632000													5	19					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261950	23261950	+	Silent	SNP	A	A	G	rs11857654	by1000genomes	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:23261950A>G	ENST00000450802.3	+	12	1160	c.1062A>G	c.(1060-1062)gaA>gaG	p.E354E																								GGAAGCAGGAAGAGAGGATTC	0.597000													4	34					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927140	196927140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:196927140C>T	ENST00000367415.4	+	4	664	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.L184F	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	184	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CTTGTATCAACTTGAGGGTAA	0.398000													10	88					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31964273	31964273	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:31964273A>T	ENST00000428956.2	+	28	3656	c.3572A>T	c.(3571-3573)cAc>cTc	p.H1191L	C4A_ENST00000498271.1_Missense_Mutation_p.H1191L	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		CTGGGTGCCCACGCAGCTGCC	0.592000													9	112					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359152	66359152	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:66359152G>A	ENST00000333861.3	-	1	1402	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	445										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACCCGTACGGCAGCCGCCT	0.547000													29	103					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767861	105767861	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:105767861G>C	ENST00000374798.3	+	5	1018	c.948G>C	c.(946-948)aaG>aaC	p.K316N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K316N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	316	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTGATTcaaagaaggatgcaa	0.398000													17	19					0	0	1	0	0
PBDC1	51260	broad.mit.edu	37	X	75397552	75397552	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:75397552G>A	ENST00000373358.3	+	6	714	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	PBDC1_ENST00000373357.3_Silent_p.E133E	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1																		agagaaaggagtcaacaatgg	0.438000													31	21					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136786	40136786	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:40136786C>A	ENST00000278198.2	-	2	3020	c.1057G>T	c.(1057-1059)Gct>Tct	p.A353S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	353	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCACCGGAGCATAGCATGTG	0.542000													17	60					0.000566183	0.000591208	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876247	27876247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:27876247G>A	ENST00000374011.2	-	6	3348	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	AHDC1_ENST00000247087.5_Nonsense_Mutation_p.Q794*|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	794	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGGTCCCCTGAAACCCACAG	0.677000													19	69					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460836	179460836	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:179460836C>A	ENST00000367618.3	+	19	2642	c.2255C>A	c.(2254-2256)aCa>aAa	p.T752K		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	752										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATTGAACTGACAAGGAAGTTG	0.413000													13	72					1.61879e-10	1.83205e-10	1	1	0
FRY	10129	broad.mit.edu	37	13	32868533	32868533	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:32868533A>T	ENST00000380250.3	+	60	9105	c.8609A>T	c.(8608-8610)gAc>gTc	p.D2870V	FRY_ENST00000380217.1_Missense_Mutation_p.D52V|FRY_ENST00000542859.1_Missense_Mutation_p.D240V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACTGAGTGACCTAAAGAAA	0.438000													17	24					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180046339	180046339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:180046339G>A	ENST00000261937.6	-	19	2753	c.2675C>T	c.(2674-2676)gCg>gTg	p.A892V	FLT4_ENST00000393347.3_Missense_Mutation_p.A892V|FLT4_ENST00000502649.1_Missense_Mutation_p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701000													11	12					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705459	4705459	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:4705459G>A	ENST00000305817.2	+	2	333	c.262G>A	c.(262-264)Ggc>Agc	p.G88S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	88	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GTTCCCCGATGGCATCCACTA	0.602000													9	28					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964777	119964777	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:119964777C>G	ENST00000543831.1	+	4	902	c.653C>G	c.(652-654)tCt>tGt	p.S218C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S218C	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	218					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGAAAGTTCTCTACAGTCAAC	0.532000													27	64					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932685	79932685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:79932685G>A	ENST00000373275.4	-	41	5048	c.4832C>T	c.(4831-4833)tCc>tTc	p.S1611F		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1611										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTTAAACTGGATCCTAACTC	0.383000													18	68					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90585078	90585078	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:90585078G>A	ENST00000406263.1	+	8	1197	c.755G>A	c.(754-756)aGa>aAa	p.R252K	CDK14_ENST00000265741.3_Missense_Mutation_p.R280K|CDK14_ENST00000380050.3_Missense_Mutation_p.R298K|CDK14_ENST00000436577.2_Missense_Mutation_p.R169K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	298	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTGTGGTACAGACCTCCAGAT	0.433000													20	134					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40565664	40565664	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr15:40565664C>G	ENST00000455577.2	+	8	2520	c.1608C>G	c.(1606-1608)ctC>ctG	p.L536L	PAK6_ENST00000453867.1_Silent_p.L536L|PAK6_ENST00000542403.2_Silent_p.L536L|PAK6_ENST00000441369.1_Silent_p.L536L|PAK6_ENST00000260404.4_Silent_p.L536L|PAK6_ENST00000560346.1_Silent_p.L536L|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	536	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCTGACCCTCGATGGCAGGG	0.607000													5	26					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281142	140281142	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:140281142C>A	ENST00000458420.3	+	13	2394	c.2204C>A	c.(2203-2205)tCc>tAc	p.S735Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	735					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCAGGCTACTCCATCTACGGT	0.552000										HNSCC(16;0.037)			25	33					4.4004e-07	4.8636e-07	1	1	0
CHSY3	337876	broad.mit.edu	37	5	129520570	129520570	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:129520570G>C	ENST00000305031.4	+	3	2093	c.1735G>C	c.(1735-1737)Gat>Cat	p.D579H		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	579						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CGAAGAGCTAGATGTCAACAG	0.403000													8	53					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817212	1817212	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr16:1817212C>T	ENST00000250894.4	+	26	3305	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1044C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1050					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCACTCCATCCGCTGCATGGC	0.617000													34	59					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2086853	2086853	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:2086853G>A	ENST00000382203.1	+	18	2760	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D851N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D851N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D851N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	851	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATGATAGTGGACGAAGGCCA	0.488000													14	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	11					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115648856	115648856	+	Silent	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:115648856G>T	ENST00000374228.4	-	3	1485	c.1254C>A	c.(1252-1254)acC>acA	p.T418T		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	418						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCACCACGCCGGTCAGAGCCA	0.547000													12	83					2.68362e-12	3.05545e-12	1	1	0
FKBP8	23770	broad.mit.edu	37	19	18649113	18649113	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:18649113C>T	ENST00000597960.2	-	5	805	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	FKBP8_ENST00000222308.3_Missense_Mutation_p.G229S|FKBP8_ENST00000596558.1_Missense_Mutation_p.G228S|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.G257S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	228					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGGGCGTTGCCGCACTCCCGC	0.682000													14	34					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501536	220501536	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:220501536G>A	ENST00000358055.3	+	16	2987	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	SLC4A3_ENST00000273063.6_Silent_p.E852E|SLC4A3_ENST00000317151.3_Silent_p.E825E|SLC4A3_ENST00000373762.3_Silent_p.E852E|SLC4A3_ENST00000373760.2_Silent_p.E825E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	825	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACCCAGGAGATCTTTGCCT	0.577000													29	72					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37596727	37596727	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:37596727G>C	ENST00000300651.6	-	5	534	c.311C>G	c.(310-312)aCg>aGg	p.T104R	MED1_ENST00000394287.3_Missense_Mutation_p.T104R	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	104	Interaction with ESR1.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATATCTGACGTGATGTAACA	0.428000										HNSCC(31;0.082)			26	90					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866224	70866224	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:70866224G>A	ENST00000322773.4	+	33	2303	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.R356Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	734	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATAGGGCCACGGGGTCCTCCA	0.483000													8	47					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098372	50098372	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:50098372G>A	ENST00000418929.2	+	4	792	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	46	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGCCGAGCAGTCCTCCCCAC	0.692000													4	9					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029424	68029424	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:68029424C>G	ENST00000329153.5	+	7	1208	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	359						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTCCACCCCTCTGGCCTTCCT	0.612000													13	17					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185094240	185094240	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:185094240G>C	ENST00000367506.5	-	12	1863	c.1595C>G	c.(1594-1596)tCa>tGa	p.S532*	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	532						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGGGAACTTGACCTGAAAAG	0.294000													6	31					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222304	140222304	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:140222304G>C	ENST00000531613.1	+	1	1398	c.1398G>C	c.(1396-1398)gaG>gaC	p.E466D	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E466D|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGAAGGAGAACAACCCGC	0.662000													17	78					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085737	95085737	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:95085737G>C	ENST00000553947.1	+	6	1812	c.924G>C	c.(922-924)aaG>aaC	p.K308N	SERPINA3_ENST00000393080.4_Missense_Mutation_p.K283N|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Missense_Mutation_p.K283N|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K283N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K65N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	283					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCAAGACAAGATGGAGGAAG	0.562000													9	66					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114456558	114456558	+	Missense_Mutation	SNP	G	G	C	rs143727096		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:114456558G>C	ENST00000394779.3	-	21	3203	c.2959C>G	c.(2959-2961)Cct>Gct	p.P987A	C9orf84_ENST00000318737.4_Missense_Mutation_p.P1026A|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1026A|C9orf84_ENST00000394777.4_Missense_Mutation_p.P952A	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1026										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTCATGAGGATCTCTCTTT	0.328000													108	129					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81283948	81283948	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:81283948G>A	ENST00000358105.3	+	2	201	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	C4orf22_ENST00000508675.1_Missense_Mutation_p.R51Q|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	51										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CTAGGCTACCGAGGGACTGGA	0.463000													30	95					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856477	44856477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:44856477G>T	ENST00000326047.4	+	20	2607	c.2458G>T	c.(2458-2460)Gaa>Taa	p.E820*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.E455*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	820					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTGAAATTGGAATATAGTTC	0.363000													13	44					2.27111e-07	2.53988e-07	1	1	0
GRSF1	2926	broad.mit.edu	37	4	71693581	71693581	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:71693581C>T	ENST00000254799.6	-	6	1240	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	GRSF1_ENST00000502323.1_Missense_Mutation_p.E213K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E257K|GRSF1_ENST00000439371.1_Missense_Mutation_p.E213K|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	375					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTCCTTCTCACTTTCAAAA	0.373000													27	115					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20453484	20453484	+	Silent	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:20453484G>C	ENST00000202677.6	-	37	5626	c.5484C>G	c.(5482-5484)ctC>ctG	p.L1828L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1828	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCTCTGGTAGAGTGGGATGA	0.453000													3	18					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21331018	21331018	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:21331018C>G	ENST00000313654.9	+	5	1062	c.821C>G	c.(820-822)tCc>tGc	p.S274C	LAMA3_ENST00000399516.3_Missense_Mutation_p.S274C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	274	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCTCATCTCCAAAGCCCAG	0.408000													37	40					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73078705	73078705	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:73078705G>T	ENST00000263674.3	+	21	6422	c.6072G>T	c.(6070-6072)atG>atT	p.M2024I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2024					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGCCTAAAATGCTGGTTATCA	0.637000													30	31					3.69857e-22	4.31499e-22	1	1	0
FLG	2312	broad.mit.edu	37	1	152277865	152277865	+	Missense_Mutation	SNP	C	C	T	rs145566935		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:152277865C>T	ENST00000368799.1	-	3	9532	c.9497G>A	c.(9496-9498)cGt>cAt	p.R3166H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3166	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.552000									Ichthyosis				29	363					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38171330	38171330	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:38171330C>A	ENST00000379747.4	-	2	326	c.209G>T	c.(208-210)gGa>gTa	p.G70V	POSTN_ENST00000541481.1_Missense_Mutation_p.G70V|POSTN_ENST00000541179.1_Missense_Mutation_p.G70V|POSTN_ENST00000379743.4_Missense_Mutation_p.G70V|POSTN_ENST00000379749.4_Missense_Mutation_p.G70V|POSTN_ENST00000379742.4_Missense_Mutation_p.G70V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	70	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGTTTTCTGTCCACAGATGGA	0.388000													7	13					0.0293803	0.0298542	1	1	0
MAB21L3	126868	broad.mit.edu	37	1	116675767	116675767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:116675767G>A	ENST00000369500.3	+	7	1135	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	290										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGCTCTTTTGGACCTGCGAGA	0.488000													7	14					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993270	144993270	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr8:144993270G>A	ENST00000322810.4	-	32	11299	c.11130C>T	c.(11128-11130)gaC>gaT	p.D3710D	PLEC_ENST00000356346.3_Silent_p.D3559D|PLEC_ENST00000345136.3_Silent_p.D3573D|PLEC_ENST00000357649.2_Silent_p.D3577D|PLEC_ENST00000354958.2_Silent_p.D3551D|PLEC_ENST00000354589.3_Silent_p.D3573D|PLEC_ENST00000436759.2_Silent_p.D3600D|PLEC_ENST00000527096.1_Silent_p.D3596D|PLEC_ENST00000398774.2_Silent_p.D3541D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3710	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGGGAATGTCGATCTGTG	0.627000													82	138					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72842100	72842100	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:72842100A>G	ENST00000325599.8	-	10	1287	c.1148T>C	c.(1147-1149)aTc>aCc	p.I383T	SHQ1_ENST00000463369.1_Missense_Mutation_p.I355T|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	383					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTAGTCTGAGATGTAGAGATC	0.343000													3	28					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059931	49059931	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059931G>T	ENST00000326925.6	+	2	1364	c.230G>T	c.(229-231)gGc>gTc	p.G77V	NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G20V|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G20V|NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G20V	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D).		mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CGCGTGCTCGGCCCCTGCGCT	0.632000													4	21					1.024e-07	1.152e-07	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158618302	158618302	+	Silent	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:158618302A>G	ENST00000368148.3	-	26	3891	c.3711T>C	c.(3709-3711)gaT>gaC	p.D1237D	SPTA1_ENST00000368147.3_Silent_p.D1237D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1237					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTCACCTTATCTCCCAGGG	0.483000													22	76					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106124954	106124954	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr13:106124954C>T	ENST00000375936.3	+	3	247	c.201C>T	c.(199-201)gaC>gaT	p.D67D	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_5'UTR	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	67						Golgi apparatus		p.D67D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGCATGAGGACGGCTATTTGG	0.413000													22	28					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059932	49059932	+	Silent	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:49059932C>A	ENST00000326925.6	+	2	1365	c.231C>A	c.(229-231)ggC>ggA	p.G77G	NDUFAF3_ENST00000395458.2_Silent_p.G20G|NDUFAF3_ENST00000326912.4_Silent_p.G20G|NDUFAF3_ENST00000451378.2_Silent_p.G20G	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	77			G -> R (in MT-C1D).		mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGTGCTCGGCCCCTGCGCTC	0.632000													4	21					1	1	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185184672	185184672	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr3:185184672C>G	ENST00000265026.3	+	10	1898	c.1564C>G	c.(1564-1566)Cct>Gct	p.P522A	MAP3K13_ENST00000446828.1_Missense_Mutation_p.P315A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.P378A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P522A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.P378A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	522					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTGTTCGTCCTATCATCCA	0.493000													44	53					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141888838	141888838	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:141888838G>T	ENST00000420921.2	-	3	339	c.251C>A	c.(250-252)gCa>gAa	p.A84E	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.A225E|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Missense_Mutation_p.A225E|RNF150_ENST00000379512.2_Missense_Mutation_p.A84E			Q9ULK6	RN150_HUMAN	ring finger protein 150	225	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GACGAGCCATGCGAGGGAAAT	0.418000													20	78					2.39187e-15	2.75649e-15	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42529917	42529917	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:42529917C>A	ENST00000282030.5	+	4	908	c.612C>A	c.(610-612)gaC>gaA	p.D204E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	204						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCACCGGTGACACCTTAAAAC	0.537000									Schinzel-Giedion syndrome				22	31					1.2644e-06	1.3578e-06	1	1	0
CCL28	56477	broad.mit.edu	37	5	43388547	43388547	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:43388547C>T	ENST00000361115.4	-	2	170	c.96G>A	c.(94-96)acG>acA	p.T32T	CCL28_ENST00000537013.1_Silent_p.T32T|CCL28_ENST00000513525.1_5'UTR	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	32					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGAAACCTCCGTGCAACAGC	0.423000													19	28					0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40230531	40230531	+	Missense_Mutation	SNP	C	C	T	rs115705483	by1000genomes	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:40230531C>T	ENST00000397360.2	-	4	1186	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	BMP8B_ENST00000372827.3_Intron			P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	251					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCAGTGGCCCTGCAGCAGA	0.677000													5	43					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13234263	13234263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr10:13234263C>T	ENST00000378694.1	+	11	1600	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.Q510*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.Q509*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	510					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGGAATACCCCAGAAGAGCCT	0.463000													3	37					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783098	115783098	+	Silent	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr5:115783098C>G	ENST00000343348.6	-	19	3091	c.2304G>C	c.(2302-2304)cgG>cgC	p.R768R	SEMA6A_ENST00000513137.1_Silent_p.R195R|SEMA6A_ENST00000503865.1_Silent_p.R147R|SEMA6A_ENST00000282394.6_Silent_p.R245R|SEMA6A_ENST00000510263.1_Silent_p.R768R|SEMA6A_ENST00000257414.8_Silent_p.R785R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	768					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCTGGGCTTCCGCTTCTGCT	0.637000													27	83					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209324626	209324626	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:209324626G>T	ENST00000272847.2	+	9	1134	c.921G>T	c.(919-921)tgG>tgT	p.W307C	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	307						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCAGGTGCTGGGAACTTAGTG	0.358000													22	62					7.87624e-14	9.02188e-14	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73786128	73786128	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:73786128T>C	ENST00000264448.6	+	15	10351	c.10240T>C	c.(10240-10242)Tca>Cca	p.S3414P	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3372P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3414					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCAGAGCACTCAGCTCAAGT	0.433000													21	19					0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121047295	121047295	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:121047295G>A	ENST00000272519.5	+	4	733	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Missense_Mutation_p.V177M|RALB_ENST00000404963.3_Missense_Mutation_p.V176M|RALB_ENST00000420510.1_Missense_Mutation_p.V155M	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	155					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CGTGCAGTACGTGGAGACGTC	0.567000													11	347					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564033	176564033	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:176564033C>T	ENST00000367662.3	+	3	2457	c.1293C>T	c.(1291-1293)acC>acT	p.T431T	PAPPA2_ENST00000367661.3_Silent_p.T431T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	431					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGGTCGACCGCCCTGCCAC	0.562000													33	56					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89616098	89616098	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:89616098C>T	ENST00000294671.2	-	6	924	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	262						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGATTGCATCTGGAAATTAC	0.408000													22	44					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10632825	10632825	+	Silent	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr20:10632825A>G	ENST00000254958.5	-	7	1475	c.960T>C	c.(958-960)taT>taC	p.Y320Y	JAG1_ENST00000423891.2_Silent_p.Y161Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	320	EGF-like 3.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGGAACACTGATATTTGTCAG	0.468000									Alagille Syndrome				12	41					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149208	50149208	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:50149208G>A	ENST00000404971.1	-	24	5857	c.4518C>T	c.(4516-4518)gaC>gaT	p.D1506D	NRXN1_ENST00000342183.5_Silent_p.D401D|NRXN1_ENST00000406859.3_Silent_p.D1436D|NRXN1_ENST00000401710.1_Silent_p.D454D|NRXN1_ENST00000405472.3_Silent_p.D1458D|NRXN1_ENST00000406316.2_Silent_p.D1436D|NRXN1_ENST00000402717.3_Silent_p.D1458D|NRXN1_ENST00000401669.2_Silent_p.D1466D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1436					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCGACTCTCGTCCACATGGT	0.483000													26	58					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9778767	9778767	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:9778767G>A	ENST00000536656.1	+	9	1139	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	PIK3CD_ENST00000543390.1_Missense_Mutation_p.G13R|PIK3CD_ENST00000361110.2_Missense_Mutation_p.G311R|PIK3CD_ENST00000377346.4_Missense_Mutation_p.G346R			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	346					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGCAGGCCGGGCTTTTCCA	0.637000													16	32					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104180	142104180	+	RNA	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:142104180G>A	ENST00000390379.1	-	0	284																											ACTCCAGCCTGAGCGGGAAAT	0.512000													95	102					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023363	17023363	+	RNA	SNP	C	C	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:17023363C>G	ENST00000492551.1	-	0	1584					NR_026567.1																						GCCTTAATCTCAGCCAGTAGC	0.622000													6	13					0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205053122	205053122	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:205053122G>A	ENST00000367167.3	-	1	523	c.327C>T	c.(325-327)atC>atT	p.I109I		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	109	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CAAACTCCAAGATGTCTGAAC	0.498000													23	36					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282259	71282259	+	Silent	SNP	G	G	A	rs150501422	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:71282259G>A	ENST00000335793.3	-	2	775	c.381C>T	c.(379-381)gcC>gcT	p.A127A	CDC42EP4_ENST00000439510.2_Silent_p.A57A|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	127					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTCTCCGCGGCCTCCTTCT	0.662000													20	24					0	0	1	0	0
HPDL	84842	broad.mit.edu	37	1	45793531	45793531	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:45793531G>A	ENST00000334815.3	+	1	987	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	237					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCCGGGGGCGACGACACGAC	0.652000													37	71					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296650	219296650	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr2:219296650G>C	ENST00000248444.5	+	11	1261	c.1173G>C	c.(1171-1173)aaG>aaC	p.K391N	VIL1_ENST00000392114.2_Missense_Mutation_p.K80N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	391	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGCAGAAGATGGTAGATG	0.567000													3	19					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293601	71293601	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr11:71293601A>C	ENST00000398530.1	-	1	320	c.283T>G	c.(283-285)Tca>Gca	p.S95A	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	95	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccacagcctgaggaggagcag	0.627000													36	101					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307078	162307078	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:162307078C>T	ENST00000306100.5	-	16	2801	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	FSTL5_ENST00000379164.4_Missense_Mutation_p.E788K|FSTL5_ENST00000427802.2_Missense_Mutation_p.E779K|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.E788K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	789						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGCCATTCTTCTGCCTTGAGT	0.468000													29	96					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75187292	75187292	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr17:75187292C>T	ENST00000413679.2	+	5	546	c.243C>T	c.(241-243)gtC>gtT	p.V81V	SEC14L1_ENST00000392476.2_Silent_p.V81V|SEC14L1_ENST00000430767.4_Silent_p.V81V|SEC14L1_ENST00000443798.4_Silent_p.V81V|SEC14L1_ENST00000431431.2_Silent_p.V47V|SEC14L1_ENST00000585618.1_Silent_p.V81V|SEC14L1_ENST00000436233.4_Silent_p.V81V|SEC14L1_ENST00000591437.1_Silent_p.V47V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	81	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TTTATTTTGTCCAGAAAAACT	0.338000													27	59					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125432554	125432554	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:125432554G>A	ENST00000544745.1	-	23	2934	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M	DHX37_ENST00000308736.2_Intron			Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	0							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGGGCTGACCGTGCACAAAGC	0.607000													10	19					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155723033	155723033	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:155723033G>T	ENST00000437809.1	-	29	5926	c.5804C>A	c.(5803-5805)aCt>aAt	p.T1935N	GON4L_ENST00000271883.5_Missense_Mutation_p.T1935N|GON4L_ENST00000368331.1_Missense_Mutation_p.T1935N			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1935					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCCTGACAGTCCTGCTCTG	0.562000													11	75					0.00010058	0.000105609	1	1	0
TMEM130	222865	broad.mit.edu	37	7	98446303	98446303	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr7:98446303A>T	ENST00000450876.1	-	7	2085	c.770T>A	c.(769-771)gTc>gAc	p.V257D	TMEM130_ENST00000339375.4_Missense_Mutation_p.V341D|TMEM130_ENST00000546258.1_Missense_Mutation_p.V322D|TMEM130_ENST00000345589.4_Missense_Mutation_p.V239D|TMEM130_ENST00000416379.2_Missense_Mutation_p.V341D			Q8N3G9	TM130_HUMAN	transmembrane protein 130	341						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCAAAGACAGCCGGCTG	0.498000													90	59					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78512009	78512009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:78512009G>C	ENST00000397909.2	+	14	3145	c.2972G>C	c.(2971-2973)aGa>aCa	p.R991T	NAV3_ENST00000266692.7_Missense_Mutation_p.R991T|NAV3_ENST00000228327.6_Missense_Mutation_p.R991T|NAV3_ENST00000536525.2_Missense_Mutation_p.R991T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	991						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCTGGAGAAGAGGCATGTCT	0.547000										HNSCC(70;0.22)			15	66					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630588	187630588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630588G>A	ENST00000441802.2	-	2	603	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413000										HNSCC(5;0.00058)			20	123					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977143	34977143	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr9:34977143C>T	ENST00000242315.3	+	6	995	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R305W|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	305							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTCCTGGCTCGGGGCAGTGG	0.597000													23	60					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405625	94405625	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:94405625G>A	ENST00000555019.1	-	8	1876	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	ASB2_ENST00000315988.4_Silent_p.I434I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	434					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGCGAACATGATGGTGGCGG	0.657000													12	105					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744756	54744756	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:54744756G>A	ENST00000440558.2	-	5	954	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LILRA6_ENST00000419410.2_Silent_p.L302L|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.L302L|LILRA6_ENST00000396365.2_Silent_p.L302L|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACTCGGAGGAGAGGTTGTGTG	0.682000													7	89					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153550	105153550	+	Silent	SNP	G	G	A			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chrX:105153550G>A	ENST00000428173.2	+	13	2223	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	NRK_ENST00000243300.9_Silent_p.L639L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	639							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCAAGCACTGATAGAGGGAC	0.488000										HNSCC(51;0.14)			6	7					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	rs142030532	byFrequency	TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:112194215G>A	ENST00000455480.2	+	22	3388	c.3211G>A	c.(3211-3213)Gac>Aac	p.D1071N	ACAD10_ENST00000313698.4_Missense_Mutation_p.D1040N|RP11-162P23.2_ENST00000546840.2_Intron	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1040							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGCTTTGCCGACGGCCCTGA	0.647000													4	15					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24774225	24774225	+	Missense_Mutation	SNP	G	G	A	rs142732440		TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:24774225G>A	ENST00000267425.3	+	10	1928	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		TTCCTAAAGCGGCGAGAGGCT	0.572000													3	22					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250735	35250735	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr19:35250735G>C	ENST00000329285.7	-	4	1344	c.971C>G	c.(970-972)tCc>tGc	p.S324C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAATGAGGAGCTGTAGTA	0.433000													18	34					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22891900	22891900	+	RNA	SNP	A	A	G			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr14:22891900A>G	ENST00000514473.2	-	0	225				TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA																							ATATACCGAGAAAAGGACATC	0.438000													14	35					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886198	144886198	+	Silent	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:144886198C>T	ENST00000369359.4	-	26	3485	c.3447G>A	c.(3445-3447)gaG>gaA	p.E1149E	PDE4DIP_ENST00000530740.1_Silent_p.E1149E|PDE4DIP_ENST00000369354.3_Silent_p.E1012E|PDE4DIP_ENST00000369356.4_Silent_p.E1012E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.E1078E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1012					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGGTGGAACTCAGCCCTCA	0.512000			T	PDGFRB	MPD								26	196					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235606187	235606187	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr1:235606187C>T	ENST00000543662.1	+	16	1619	c.1513C>T	c.(1513-1515)Cat>Tat	p.H505Y	TBCE_ENST00000366601.3_Missense_Mutation_p.H454Y|TBCE_ENST00000406207.1_Missense_Mutation_p.H454Y|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	454					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AAAATACCCTCATCAACTTGA	0.373000													5	24					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982437	7982437	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr12:7982437G>C	ENST00000543909.1	-	10	1266	c.507C>G	c.(505-507)atC>atG	p.I169M	SLC2A14_ENST00000340749.5_Missense_Mutation_p.I146M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.I169M|SLC2A14_ENST00000542546.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.I60M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.I184M|SLC2A14_ENST00000431042.2_Missense_Mutation_p.I146M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	169					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CAGTAGGCGAGATCTCTCCAA	0.502000													18	30					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630671	187630671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr4:187630671delT	ENST00000441802.2	-	2	520	c.311delA	c.(310-312)atfs	p.N104fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	104	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATAGCTGTATTTCCTCCTTT	0.393										HNSCC(5;0.00058)			30	39	---	---	---	---					
PAQR8	85315	broad.mit.edu	37	6	52268989	52268991	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr6:52268989_52268991delCTT	ENST00000442253.2	+	2	1152_1154	c.978_980delCTT	c.(976-981)tcc>tc	p.SF326del	PAQR8_ENST00000360726.3_In_Frame_Del_p.SF326del	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	326					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGCCTCTCCTTCTTCTTCCTG	0.616													12	18	---	---	---	---					
SS18	6760	broad.mit.edu	37	18	23619301	23619302	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-A49A-01A-11D-A24D-08	TCGA-CN-A49A-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cb8f9b4-0158-433e-8a7b-9e6ad9973c66	0d911ab5-5f7e-45ae-ac28-211d4e0e34f8	g.chr18:23619301_23619302delGA	ENST00000415083.2	-	6	781_782	c.726_727delTC	c.(724-729)aaatfs	p.NH242fs	SS18_ENST00000545952.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.NH190fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.NH219fs|SS18_ENST00000539849.1_Frame_Shift_Del_p.NH160fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.NH242fs	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	242	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCATCATATGATTGCCTTGGT	0.441			T	"""SSX1,  SSX2"""	synovial sarcoma								60	111	---	---	---	---