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
ABCB11	8647	broad.mit.edu	37	2	169781270	169781270	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:169781270C>T	ENST00000263817.6	-	27	3786	c.3662G>A	c.(3661-3663)aGa>aAa	p.R1221K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1221	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTCTCCCCTCTAGAGAGTTG	0.413000													19	68					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151127038	151127038	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:151127038C>T	ENST00000474524.1	+	38	5761	c.5723C>T	c.(5722-5724)cCg>cTg	p.P1908L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1908	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGGGCCAGCCGGGGGACCAG	0.517000													31	145					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121854012	121854012	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:121854012C>T	ENST00000361234.5	+	2	229	c.57C>T	c.(55-57)gtC>gtT	p.V19V	RNF34_ENST00000392464.2_Silent_p.V19V|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Silent_p.V20V	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	19					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TGAATGAAGTCATGGGAACTG	0.527000													18	145					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46262832	46262832	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:46262832C>G	ENST00000372004.3	+	10	1221	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	NCOA3_ENST00000371997.3_Missense_Mutation_p.F345L|NCOA3_ENST00000341724.6_Missense_Mutation_p.F345L|NCOA3_ENST00000371998.3_Missense_Mutation_p.F335L	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	335					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATATCGATTCTCGTTGGCTG	0.413000													45	126					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956581	93956581	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:93956581C>G	ENST00000369303.4	-	15	2839	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	885	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCCAACTATCTGTTCAAATT	0.443000													35	93					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299870	15299870	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:15299870C>A	ENST00000263388.2	-	8	1383	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	436	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGCCCCGACAGACACTCGT	0.647000													15	51					3.41278e-10	3.83938e-10	1	1	0
NOL4	8715	broad.mit.edu	37	18	31709978	31709978	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:31709978C>A	ENST00000261592.5	-	2	568	c.271G>T	c.(271-273)Gta>Tta	p.V91L	NOL4_ENST00000538587.1_Missense_Mutation_p.V17L|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.V91L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	91						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTACCCCTACGCCATCCTGG	0.343000													9	34					3.09899e-07	3.36884e-07	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418000													5	127					0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88779033	88779033	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:88779033T>A	ENST00000567949.1	+	7	679	c.670T>A	c.(670-672)Ttc>Atc	p.F224I	CTU2_ENST00000453996.2_Missense_Mutation_p.F153I|CTU2_ENST00000378384.3_Missense_Mutation_p.F66I|CTU2_ENST00000312060.5_Missense_Mutation_p.F153I			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	153					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CCGGAAGGTGTTCAGCCTGCC	0.687000													15	48					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416310	153416310	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:153416310G>A	ENST00000369951.4	+	2	355	c.295G>A	c.(295-297)Gac>Aac	p.D99N	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	99					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGTCGCTGACCTAGCAGA	0.582000													25	110					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103571816	103571816	+	Missense_Mutation	SNP	G	G	A	rs115145808	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:103571816G>A	ENST00000226578.4	-	13	1846	c.1747C>T	c.(1747-1749)Ctt>Ttt	p.L583F	MANBA_ENST00000505239.1_Missense_Mutation_p.L526F	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	583					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TGTCGATGAAGTGAAAACTTG	0.373000													25	81					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40211489	40211489	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:40211489C>T	ENST00000302541.6	+	8	1120	c.778C>T	c.(778-780)Cca>Tca	p.P260S	MYRIP_ENST00000396217.3_Missense_Mutation_p.P171S|MYRIP_ENST00000444716.1_Missense_Mutation_p.P260S|MYRIP_ENST00000539167.1_Missense_Mutation_p.P73S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.P260S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	260	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGAAGAAGAGCCAGGATGGCC	0.562000													25	100					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098866	220098866	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:220098866C>T	ENST00000323348.5	+	9	1234	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	ANKZF1_ENST00000410034.3_Missense_Mutation_p.R354W|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R144W	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	354						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGACCCTCGGGAAGCAGT	0.473000													3	29					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12991789	12991789	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:12991789G>T	ENST00000222219.3	-	2	356	c.264C>A	c.(262-264)agC>agA	p.S88R	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.S88R	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	88					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCTTCACCTGGCTGGTGTTGC	0.687000													8	52					2.17888e-05	2.31655e-05	1	1	0
THBS2	7058	broad.mit.edu	37	6	169639701	169639701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:169639701G>T	ENST00000366787.3	-	8	1371	c.1122C>A	c.(1120-1122)tgC>tgA	p.C374*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	374	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGTGGAGGCAGGAAGGGC	0.478000													4	11					0.184627	0.185586	1	1	0
ROR2	4920	broad.mit.edu	37	9	94487335	94487335	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:94487335C>G	ENST00000375708.3	-	9	1639	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E341Q	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	481	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACCGGTCCTCTCCCAGCTCC	0.572000													85	520					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058169	56058169	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:56058169C>A	ENST00000313022.2	-	1	397	c.370G>T	c.(370-372)Gct>Tct	p.A124S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CTGCAGATAGCTACGTAGCGA	0.443000													25	64					1.33986e-20	1.63059e-20	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117299194	117299194	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:117299194C>A	ENST00000321322.6	-	33	6193	c.6192G>T	c.(6190-6192)ccG>ccT	p.P2064P	DSCAML1_ENST00000527706.1_Silent_p.P1794P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2004					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTGGGGGCCGGAGGGGCAG	0.736000													7	16					8.12818e-05	8.52468e-05	1	1	0
PDS5B	23047	broad.mit.edu	37	13	33247449	33247449	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:33247449C>T	ENST00000315596.10	+	8	988	c.802C>T	c.(802-804)Cat>Tat	p.H268Y		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	268					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TATTGATAGTCATTTGCTGCT	0.323000													5	83					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79767532	79767532	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:79767532G>A	ENST00000372371.3	-	15	2139	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	668					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CAGTCTCGCAGCAAAATGTAA	0.473000													22	59					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931637	73931637	+	Missense_Mutation	SNP	C	C	T	rs61758147		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:73931637C>T	ENST00000302351.4	-	2	1804	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ENC1_ENST00000537006.1_Missense_Mutation_p.R225H|ENC1_ENST00000510316.1_Missense_Mutation_p.R152H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	225					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.R225H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTAGCAATAGCGCTTCTTCAG	0.493000													12	73					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149449827	149449827	+	Missense_Mutation	SNP	C	C	A	rs34951517	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:149449827C>A	ENST00000286301.3	-	9	1528	c.1237G>T	c.(1237-1239)Ggc>Tgc	p.G413C		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	413	Ig-like C2-type 5.		G -> S (in dbSNP:rs34951517).		cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.G413S(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTGCCAGAGCCGTTGATGAAT	0.577000													16	33					2.35188e-11	2.69283e-11	1	1	0
SRC	6714	broad.mit.edu	37	20	36022655	36022655	+	Silent	SNP	C	C	T	rs140204627		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:36022655C>T	ENST00000373578.2	+	7	877	c.528C>T	c.(526-528)ctC>ctT	p.L176L	SRC_ENST00000373567.2_Silent_p.L176L|SRC_ENST00000358208.4_Silent_p.L176L|SRC_ENST00000373558.2_Silent_p.L182L|SRC_ENST00000360723.4_Silent_p.L182L|SRC_ENST00000445403.1_Silent_p.L176L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	176	SH2.		L -> F (in dbSNP:rs6018260).		axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGACCTTCCTCGTGCGAGAAA	0.557000													15	103					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111495032	111495032	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:111495032T>A	ENST00000369763.4	-	2	864	c.474A>T	c.(472-474)aaA>aaT	p.K158N	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGATGAGTCTTTTTGTGTTG	0.408000													24	43					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835992	12835992	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:12835992C>A	ENST00000357726.4	+	2	621	c.594C>A	c.(592-594)aaC>aaA	p.N198K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	198										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCCTGAACACGGTGGAGC	0.522000													4	149					1	1	1	1	0
COA1	55744	broad.mit.edu	37	7	43679188	43679188	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:43679188T>C	ENST00000395879.1	-	5	2115	c.434A>G	c.(433-435)aAg>aGg	p.K145R	COA1_ENST00000310564.6_Missense_Mutation_p.K145R|COA1_ENST00000395880.3_Missense_Mutation_p.K145R|COA1_ENST00000223336.6_Missense_Mutation_p.K145R|COA1_ENST00000488813.1_5'UTR					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TCTCTACTCCTTTTTCACTTC	0.517000													3	124					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5247726	5247726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:5247726G>T	ENST00000380448.1	+	6	629	c.376G>T	c.(376-378)Gag>Tag	p.E126*	AKR1C4_ENST00000263126.1_Nonsense_Mutation_p.E126*			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	126					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCAGCCAGGTGAGACGCCACT	0.443000													10	74					0.000673444	0.000693146	1	1	0
NFYC	4802	broad.mit.edu	37	1	41213214	41213214	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:41213214C>T	ENST00000372652.1	+	3	382	c.114C>T	c.(112-114)ttC>ttT	p.F38F	NFYC_ENST00000372654.1_Silent_p.F38F|NFYC_ENST00000308733.5_Silent_p.F38F|NFYC_ENST00000440226.3_Silent_p.F38F|NFYC_ENST00000425457.2_Silent_p.F38F|NFYC_ENST00000456393.2_Silent_p.F38F|NFYC_ENST00000427410.2_Silent_p.F38F|NFYC_ENST00000372653.1_Silent_p.F38F|NFYC_ENST00000372651.1_Silent_p.F38F|NFYC_ENST00000447388.3_Silent_p.F38F			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	38					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AGAAAGACTTCCGAGTGCAGG	0.408000													10	44					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50136212	50136212	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:50136212T>C	ENST00000299192.7	+	14	1977	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.S510P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	596							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAAAGATCCTTCCCTTGTGGT	0.403000													54	141					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71424865	71424865	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:71424865C>T	ENST00000373657.1	-	3	3985	c.3383G>A	c.(3382-3384)tGa>tAa	p.*1128*	ERCC6L_ENST00000334463.3_Silent_p.*1251*|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	0					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTTACATTCTCAATTGTTATT	0.338000													4	29					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117853182	117853182	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:117853182G>A	ENST00000350763.4	-	2	527	c.116C>T	c.(115-117)gCc>gTc	p.A39V	TNC_ENST00000345230.3_Missense_Mutation_p.A39V|TNC_ENST00000341037.4_Missense_Mutation_p.A39V|TNC_ENST00000537320.1_Missense_Mutation_p.A39V|TNC_ENST00000535648.1_Missense_Mutation_p.A39V|TNC_ENST00000346706.3_Missense_Mutation_p.A39V|TNC_ENST00000423613.2_Missense_Mutation_p.A39V|TNC_ENST00000542877.1_Missense_Mutation_p.A39V|TNC_ENST00000340094.3_Missense_Mutation_p.A39V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	39					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGCAGGGTGGCGTTCACCCC	0.557000													33	62					0	0	1	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952299	95952299	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:95952299C>G	ENST00000342697.4	-	3	669	c.262G>C	c.(262-264)Gag>Cag	p.E88Q	TP53INP1_ENST00000378776.4_Missense_Mutation_p.E88Q|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.E88Q	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	88					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GGACATGACTCAAACTGGAGA	0.468000													6	48					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990364	134990364	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:134990364C>A	ENST00000535938.1	+	11	1443	c.1276C>A	c.(1276-1278)Cca>Aca	p.P426T	SAGE1_ENST00000370709.3_Missense_Mutation_p.P426T|SAGE1_ENST00000324447.3_Missense_Mutation_p.P426T|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	426										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGCTGGTATTCCACCCATGAG	0.423000													58	119					2.40041e-21	2.93974e-21	1	1	0
PIGA	5277	broad.mit.edu	37	X	15349800	15349800	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:15349800T>C	ENST00000333590.4	-	2	337	c.253A>G	c.(253-255)Agt>Ggt	p.S85G	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	85					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TTGAGGCCACTGGTGAGGTAA	0.453000													5	151					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635510	6635510	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:6635510G>C	ENST00000315579.5	+	20	3338	c.2539G>C	c.(2539-2541)Gag>Cag	p.E847Q	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.E802Q	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	847					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGGTTGTTTGAGCGACTGCG	0.567000													22	135					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567331	15567331	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:15567331A>T	ENST00000343625.6	-	10	1638	c.1558T>A	c.(1558-1560)Tac>Aac	p.Y520N	RASAL3_ENST00000595098.1_5'UTR	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	520	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TCCTGGAGGTAATCCTGTGCC	0.602000													4	52					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105001	168105001	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:168105001C>T	ENST00000409195.1	+	9	7188	c.7099C>T	c.(7099-7101)Cct>Tct	p.P2367S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2367S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2145S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2192					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTGCCGCCTCCTCCTCCTCC	0.468000													14	121					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76260254	76260254	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:76260254G>T	ENST00000319942.3	+	9	986	c.915G>T	c.(913-915)caG>caT	p.Q305H	RABGGTB_ENST00000535300.1_Missense_Mutation_p.Q131H|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	305					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GAGAAGAACAGATTAAACCTG	0.348000													47	111					4.25531e-23	5.26136e-23	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745749	77745749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:77745749C>A	ENST00000409088.3	-	3	1660	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.E417*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.E417*|LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.E416*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.E416*	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	416						integral to membrane		p.E416*(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCTCATACTCTTGCTCTGCG	0.478000													27	64					6.04164e-23	7.44623e-23	1	1	0
SLC45A3	85414	broad.mit.edu	37	1	205628639	205628639	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:205628639C>A	ENST00000367145.3	-	5	1680	c.1385G>T	c.(1384-1386)gGg>gTg	p.G462V	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	462					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCAGAGGCCCCGCAGAGCGC	0.682000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	23					1.08611e-07	1.18736e-07	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194081334	194081334	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:194081334G>T	ENST00000347624.3	-	2	524	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	LRRC15_ENST00000439944.2_Missense_Mutation_p.Q153K|LRRC15_ENST00000428839.1_Missense_Mutation_p.Q153K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	147						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGCTGCACTGGGAGAAGTGG	0.592000													22	84					4.35082e-09	4.83841e-09	1	1	0
STMN4	81551	broad.mit.edu	37	8	27098601	27098601	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:27098601C>T	ENST00000350889.4	-	5	482	c.369G>A	c.(367-369)aaG>aaA	p.K123K	STMN4_ENST00000265770.7_Silent_p.K96K|STMN4_ENST00000519997.1_Silent_p.K87K|STMN4_ENST00000522908.1_Silent_p.K123K|STMN4_ENST00000523048.1_Silent_p.K123K|STMN4_ENST00000519614.1_Silent_p.K96K	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	96					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CTTCTAGTTTCTTCTGGATCT	0.557000													12	38					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616125	73616125	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:73616125G>T	ENST00000261917.3	-	8	3302	c.2309C>A	c.(2308-2310)aCg>aAg	p.T770K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	770					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GATGACGGGCGTGGGGGTTGG	0.662000													25	50					1.57582e-32	2.01268e-32	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69811083	69811083	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:69811083G>T	ENST00000251566.4	-	2	835	c.805C>A	c.(805-807)Caa>Aaa	p.Q269K	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	269						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTTAGGTTGGTATGGTTGA	0.378000													22	71					2.12542e-12	2.46268e-12	1	1	0
LCK	3932	broad.mit.edu	37	1	32745748	32745748	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:32745748G>C	ENST00000333070.4	+	12	1454	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	LCK_ENST00000373564.3_Missense_Mutation_p.D429H|LCK_ENST00000336890.5_Missense_Mutation_p.D422H	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	422	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CATCAAGTCAGATGTGTGGTC	0.542000			T	TRB@	T-ALL								4	63					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834925	24834925	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:24834925G>A	ENST00000395799.3	+	25	5815	c.5686G>A	c.(5686-5688)Gat>Aat	p.D1896N	TNRC6A_ENST00000432286.2_Missense_Mutation_p.D374N|TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1847N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1896	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGCCGGACCGATCTCAATCA	0.607000													21	272					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102024	66102024	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:66102024C>G	ENST00000349533.6	+	20	3009	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	LEPR_ENST00000406510.3_Missense_Mutation_p.L9V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	942					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTGGTCTCTCTACTTTCAAC	0.393000													13	92					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118716040	118716040	+	Silent	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:118716040A>G	ENST00000376300.2	-	12	1043	c.906T>C	c.(904-906)gcT>gcC	p.A302A	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Silent_p.A301A	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	302										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GACTTTCTTCAGCTGATAGCT	0.433000													17	50					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228560378	228560378	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:228560378C>T	ENST00000570156.2	+	105	24844	c.24770C>T	c.(24769-24771)tCc>tTc	p.S8257F	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4934F|OBSCN_ENST00000422127.1_Missense_Mutation_p.S7300F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7300					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGACATTTCCGAGGTGGAC	0.582000													7	25					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124265836	124265836	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:124265836G>A	ENST00000409039.3	+	6	673	c.648G>A	c.(646-648)caG>caA	p.Q216Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	216	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAACCATGCAGCAACTTGAAG	0.373000													4	161					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30950013	30950013	+	Splice_Site	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:30950013C>A	ENST00000383096.3	-	6	531		c.e6+1		CCDC178_ENST00000402325.1_Splice_Site|CCDC178_ENST00000300227.8_Splice_Site|CCDC178_ENST00000406524.2_Splice_Site|CCDC178_ENST00000579947.1_Splice_Site|CCDC178_ENST00000583930.1_Splice_Site|CCDC178_ENST00000403303.1_Splice_Site|CCDC178_ENST00000579916.1_Splice_Site					coiled-coil domain containing 178																		TAGTCTCTTACCCTTTTCAAA	0.368000													27	78					6.38683e-12	7.37822e-12	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873330	91873330	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:91873330C>T	ENST00000373094.1	+	7	4280	c.3435C>T	c.(3433-3435)atC>atT	p.I1145I	PCDH11X_ENST00000406881.1_Silent_p.I1137I|PCDH11X_ENST00000373088.1_Silent_p.I1108I|PCDH11X_ENST00000298274.8_Silent_p.I1108I|PCDH11X_ENST00000373097.1_Silent_p.I1135I|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.I1127I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1145					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATGTCTCATCTATGGCCATT	0.483000													5	28					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955042	19955042	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:19955042G>A	ENST00000396085.1	+	7	1613	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	NAV2_ENST00000396087.3_Missense_Mutation_p.E441K|NAV2_ENST00000360655.4_Missense_Mutation_p.E354K|NAV2_ENST00000349880.4_Missense_Mutation_p.E418K|NAV2_ENST00000540292.1_Missense_Mutation_p.E372K|NAV2_ENST00000527559.2_Missense_Mutation_p.E370K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	441						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAAGGCAGGTGAGGGGCCGGG	0.607000													10	46					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183680	60183680	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:60183680T>A	ENST00000300187.6	+	5	1516	c.1239T>A	c.(1237-1239)caT>caA	p.H413Q	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.H396Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.H446Q|MS4A14_ENST00000531787.1_Missense_Mutation_p.H301Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	413						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						tatcagcgcatgccatATTAC	0.473000													17	53					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:88870299C>T	ENST00000301019.4	+	1	679	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	20					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.781000													5	19					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805910	22805910	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:22805910C>G	ENST00000361524.3	-	4	2120	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	ZNF521_ENST00000538137.2_Missense_Mutation_p.D658H|ZNF521_ENST00000584787.1_Missense_Mutation_p.D438H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	658					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACAGTGTCGAGATGAGTT	0.443000			T	PAX5	ALL								25	285					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132011	42132011	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:42132011C>A	ENST00000221954.2	-	2	498	c.388G>T	c.(388-390)Gac>Tac	p.D130Y	CEACAM4_ENST00000600925.1_Missense_Mutation_p.D130Y	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	130	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TGGTCAGAGTCGTAACTGGCA	0.532000													68	160					1.43987e-31	1.83299e-31	1	1	0
HEXB	3074	broad.mit.edu	37	5	74011444	74011444	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:74011444C>T	ENST00000511181.1	+	8	1248	c.336C>T	c.(334-336)ttC>ttT	p.F112F	HEXB_ENST00000261416.7_Silent_p.F337F			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	337					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		CTACATTTTTCAAAGAAATTA	0.358000													19	176					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59908077	59908077	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:59908077C>T	ENST00000468189.1	-	8	713	c.343G>A	c.(343-345)Gag>Aag	p.E115K	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.E115K|FHIT_ENST00000476844.1_Missense_Mutation_p.E115K|FHIT_ENST00000341848.4_Missense_Mutation_p.E115K			P49789	FHIT_HUMAN	fragile histidine triad	115					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CCCACCTCCTCATAGATGCTG	0.428000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				11	101					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494186	55494186	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:55494186G>A	ENST00000543010.1	+	6	1263	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	NLRP2_ENST00000263437.6_Missense_Mutation_p.D371N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D352N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D350N|NLRP2_ENST00000427260.2_Missense_Mutation_p.D351N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D374N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D350N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D352N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	374	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACACTTTGGAGACGAGGACCA	0.627000													8	30					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009678	46009678	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:46009678G>A	ENST00000296137.2	-	8	1353	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S383L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	383					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTTTGTGTCTGATGCCGTATC	0.562000													19	204					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882851	43882851	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:43882851G>A	ENST00000443950.2	-	3	968	c.482C>T	c.(481-483)tCg>tTg	p.S161L	HNRNPF_ENST00000544000.1_Missense_Mutation_p.S161L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.S161L|HNRNPF_ENST00000357065.4_Missense_Mutation_p.S161L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.S161L	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	161	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TAACTCCTGCGAGGCAAACTG	0.512000													14	97					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490212	65490212	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:65490212G>A	ENST00000261883.4	-	9	2578	c.2412C>T	c.(2410-2412)aaC>aaT	p.N804N		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	804					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACAGGCCCCGTTGGGGCCTG	0.587000													3	30					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564596	176564596	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:176564596A>G	ENST00000367662.3	+	3	3020	c.1856A>G	c.(1855-1857)tAc>tGc	p.Y619C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Y619C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	619	Metalloprotease.				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						GGCCGCTGCTACTCCTGGAAC	0.597000													27	55					0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74176575	74176575	+	Missense_Mutation	SNP	G	G	T	rs142388512	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:74176575G>T	ENST00000300504.2	+	4	439	c.356G>T	c.(355-357)cGc>cTc	p.R119L	TBC1D21_ENST00000535547.2_Missense_Mutation_p.R83L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.R119L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	119	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACAGAGACTCGCAATAACATT	0.542000													34	107					1.76056e-25	2.19079e-25	1	1	0
LARP4B	23185	broad.mit.edu	37	10	858900	858900	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:858900C>T	ENST00000316157.3	-	17	2223	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	728							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GCTCTGCTCTCGGCTGAGACG	0.667000													13	78					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20122656	20122656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:20122656G>T	ENST00000396085.1	+	33	6725	c.6364G>T	c.(6364-6366)Gag>Tag	p.E2122*	NAV2_ENST00000396087.3_Nonsense_Mutation_p.E2178*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.E2055*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.E2119*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.E2109*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.E2107*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.E1183*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.E1183*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2178						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTGCTTCGAGAGGGACGGGA	0.547000													38	110					8.20599e-20	9.8932e-20	1	1	0
VWC2L	402117	broad.mit.edu	37	2	215301441	215301441	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:215301441C>T	ENST00000312504.5	+	3	1281	c.479C>T	c.(478-480)cCa>cTa	p.P160L	VWC2L_ENST00000427124.1_Intron|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	160	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGTGTCAACCCAGTCTATGAA	0.453000													19	55					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884180	53884180	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:53884180C>G	ENST00000467003.1	+	4	441	c.240C>G	c.(238-240)atC>atG	p.I80M	ZNF525_ENST00000600148.1_3'UTR|ZNF525_ENST00000474037.1_Missense_Mutation_p.I116M|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TGACAAAAATCAAAAAATTGA	0.373000													15	136					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	537956	537956	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:537956G>C	ENST00000239830.4	+	6	614	c.435G>C	c.(433-435)aaG>aaC	p.K145N	CCDC77_ENST00000422000.1_Missense_Mutation_p.K113N|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Missense_Mutation_p.K113N|CCDC77_ENST00000412006.2_Missense_Mutation_p.K113N	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	145						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ACAAGAAAAAGATTCAGAATC	0.398000													19	85					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372244	126372244	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:126372244C>A	ENST00000394329.3	+	9	10086	c.10073C>A	c.(10072-10074)tCt>tAt	p.S3358Y	FAT4_ENST00000335110.5_Missense_Mutation_p.S1656Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3358	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTATGTTTCTGGAATTCTT	0.403000													8	110					7.48243e-07	8.06602e-07	1	1	0
URB2	9816	broad.mit.edu	37	1	229773239	229773239	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:229773239C>G	ENST00000258243.2	+	4	3015	c.2879C>G	c.(2878-2880)tCt>tGt	p.S960C		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	960						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGTGCTCGCTCTGTGTTCAAG	0.443000													6	330					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961582	34961582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:34961582C>A	ENST00000329357.5	+	1	670	c.634C>A	c.(634-636)Cgc>Agc	p.R212S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	212	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCAGTCGCCGCCCAGAGCC	0.652000													51	95					2.44918e-20	2.97127e-20	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19190270	19190270	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:19190270C>T	ENST00000328405.2	+	1	325	c.59C>T	c.(58-60)aCc>aTc	p.T20I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	20	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACCATCGCCACCCGTTTTGAC	0.468000													20	108					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010445	78010445	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:78010445G>T	ENST00000435339.2	+	2	484	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Missense_Mutation_p.A27S	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	27						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAATGCTACTGCCAATAATAC	0.413000													8	177					1.12685e-05	1.20467e-05	1	1	0
BTBD8	284697	broad.mit.edu	37	1	92573521	92573521	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:92573521G>A	ENST00000370382.3	+	4	892	c.625G>A	c.(625-627)Gat>Aat	p.D209N	BTBD8_ENST00000540648.1_Missense_Mutation_p.D209N|BTBD8_ENST00000342818.3_Missense_Mutation_p.D209N			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	209	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCAGATATTGATATTTTTGT	0.373000													6	82					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709042	71709042	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:71709042G>T	ENST00000258104.3	+	3	455	c.178G>T	c.(178-180)Gac>Tac	p.D60Y	DYSF_ENST00000413539.2_Missense_Mutation_p.D60Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D61Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D61Y|DYSF_ENST00000409366.1_Missense_Mutation_p.D61Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D60Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D60Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D61Y|DYSF_ENST00000394120.2_Missense_Mutation_p.D61Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D61Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D60Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	60	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCCCCTGGACCAGGGCTC	0.537000													13	44					8.10497e-08	8.88562e-08	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43044340	43044340	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:43044340G>A	ENST00000267890.6	-	14	3212	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1035					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATCTTCAGCTGACCTACTCAG	0.463000													8	49					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107823197	107823197	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:107823197C>A	ENST00000379028.3	-	23	2942	c.2472G>T	c.(2470-2472)ctG>ctT	p.L824L	NRCAM_ENST00000351718.4_Silent_p.L808L|NRCAM_ENST00000413765.2_Silent_p.L805L|NRCAM_ENST00000379022.4_Silent_p.L824L|NRCAM_ENST00000379024.4_Silent_p.L805L|NRCAM_ENST00000425651.2_Silent_p.L824L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	824	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCATGTCATTCAGGGCCTGAA	0.473000													10	71					2.80697e-09	3.13054e-09	1	1	0
TAF7	6879	broad.mit.edu	37	5	140698670	140698670	+	Silent	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:140698670G>C	ENST00000313368.5	-	1	1660	c.942C>G	c.(940-942)ctC>ctG	p.L314L		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	314					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGTTCTTGAGAGCCAGAT	0.458000													7	13					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798364	42798364	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:42798364G>T	ENST00000572681.2	+	19	7021	c.6953G>T	c.(6952-6954)cGc>cTc	p.R2318L	CIC_ENST00000575354.2_Missense_Mutation_p.R1412L|CIC_ENST00000160740.3_Missense_Mutation_p.R1410L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1412fs*23(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCGCCCAAGCGCAAGATGAGA	0.622000			"""Mis, F, S"""		oligodendroglioma								32	77					5.43694e-19	6.53445e-19	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24924006	24924006	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:24924006T>C	ENST00000396432.2	-	5	781	c.295A>G	c.(295-297)Atg>Gtg	p.M99V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	98	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATGGTATCCATTGGTTCCAAG	0.323000													19	68					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44456390	44456390	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:44456390A>G	ENST00000441843.1	+	3	1117	c.632A>G	c.(631-633)aAt>aGt	p.N211S	LACC1_ENST00000325686.6_Missense_Mutation_p.N211S	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	211																	AGCTCATTCAATCTCTTCAGT	0.373000													26	81					0	0	1	0	0
RNF166	115992	broad.mit.edu	37	16	88767686	88767686	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:88767686C>T	ENST00000312838.4	-	2	391	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	RNF166_ENST00000567844.1_Intron|RNF166_ENST00000541206.2_5'UTR	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	99						intracellular	zinc ion binding			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GTTGCAGCCTCGACAGGGCGC	0.662000													4	101					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329108	152329108	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:152329108G>A	ENST00000388718.5	-	3	1226	c.1154C>T	c.(1153-1155)tCt>tTt	p.S385F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	385	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTACCTCCAGACCCATATTG	0.438000													33	145					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27220139	27220139	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:27220139G>A	ENST00000380036.4	+	21	3638	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	TEK_ENST00000406359.4_Missense_Mutation_p.E1023K|TEK_ENST00000519097.1_Missense_Mutation_p.E918K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1066	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTGTGATGATGAGGTGTAAGT	0.542000													5	38					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382						membrane		p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612000													14	60					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569643	76569643	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:76569643G>A	ENST00000307431.8	+	19	3339	c.2954G>A	c.(2953-2955)tGc>tAc	p.C985Y	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.C937Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.C913Y|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.C989Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	986	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTTTGTGACTGCACTTTCTCT	0.458000													6	30					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64522998	64522998	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:64522998C>T	ENST00000164139.3	-	6	1091	c.693G>A	c.(691-693)gtG>gtA	p.V231V	PYGM_ENST00000377432.3_Silent_p.V143V	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	231					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GATAGCCAGGCACGGGCGTAT	0.602000													12	46					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25068839	25068839	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:25068839T>G	ENST00000381989.3	-	7	718	c.613A>C	c.(613-615)Aag>Cag	p.K205Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	205					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGGTTTTCTTTATAGCAAAC	0.318000													20	39					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129364679	129364679	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:129364679G>T	ENST00000370978.4	-	9	947	c.794C>A	c.(793-795)aCt>aAt	p.T265N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAAATTTAGTTATCATGTC	0.328000													16	87					4.75885e-15	5.54721e-15	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41791195	41791195	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:41791195C>T	ENST00000396930.3	-	18	5086	c.4543G>A	c.(4543-4545)Gaa>Aaa	p.E1515K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1515K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1515K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1515					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GATCCTTGTTCTGGGCTGATC	0.587000													18	160					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100904092	100904092	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:100904092A>C	ENST00000370552.3	-	3	572	c.513T>G	c.(511-513)gaT>gaG	p.D171E	HPSE2_ENST00000370546.1_Missense_Mutation_p.D171E|HPSE2_ENST00000370549.1_Missense_Mutation_p.D171E|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	171					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCAGCATAACATCAGGGTGCT	0.423000													46	108					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59533876	59533876	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:59533876G>A	ENST00000393853.4	+	2	188	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TBX4_ENST00000240335.1_Missense_Mutation_p.E9K			P57082	TBX4_HUMAN	T-box 4	9					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGCCTGTCCGAGAGCGAGGA	0.731000													3	7					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936377	30936377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:30936377C>A	ENST00000355537.3	+	2	2055	c.1908C>A	c.(1906-1908)tgC>tgA	p.C636*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCCGACTGCGGCCGGGTGT	0.627000													60	190					1.93348e-29	2.4533e-29	1	1	0
ALAS2	212	broad.mit.edu	37	X	55041408	55041408	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:55041408G>T	ENST00000330807.5	-	9	1346	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ALAS2_ENST00000335854.4_Silent_p.T366T|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Silent_p.T390T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	403					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAAGTCACGGGTGCTGGCAA	0.542000													3	21					0.184627	0.185586	1	1	0
KIAA1468	57614	broad.mit.edu	37	18	59855231	59855231	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:59855231G>A	ENST00000256858.6	+	1	741	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	KIAA1468_ENST00000398130.2_Missense_Mutation_p.E165K			Q9P260	K1468_HUMAN	KIAA1468	165							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGGAGGTCGGGAACCGAGTAC	0.652000											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	23					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53117090	53117090	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:53117090C>A	ENST00000375442.4	+	7	2183	c.2051C>A	c.(2050-2052)gCc>gAc	p.A684D		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	684					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AACGGTTGGGCCAATCCGGGG	0.542000											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	81					9.70103e-10	1.0882e-09	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058172	11058172	+	RNA	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:11058172G>T	ENST00000470054.1	-	0	475									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)		TCTTTCAGGAGCTTGGTCAAT	0.383000													8	133					0.00829132	0.00844405	1	1	0
CNOT3	4849	broad.mit.edu	37	19	54649349	54649349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:54649349G>T	ENST00000406403.1	+	7	2102	c.499G>T	c.(499-501)Gag>Tag	p.E167*	CNOT3_ENST00000221232.5_Nonsense_Mutation_p.E167*|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	167					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGACCGGATTGAGGGCTTGAA	0.632000													3	38					6.4e-05	6.73192e-05	1	1	0
POTEA	340441	broad.mit.edu	37	8	43152582	43152582	+	RNA	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:43152582G>A	ENST00000522175.2	+	0	570							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATACGGTGCTGACATTGAATC	0.338000													26	51					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509338	65509338	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:65509338T>A	ENST00000310193.3	-	6	1555	c.1382A>T	c.(1381-1383)cAa>cTa	p.Q461L	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	461					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACCAACAATTGTTTTATTTC	0.348000													17	27					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492241	71492241	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:71492241C>A	ENST00000296755.7	+	5	3357	c.3059C>A	c.(3058-3060)gCt>gAt	p.A1020D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1020						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAGAGGAGGCTGATGAGGAG	0.522000													40	75					1.04594e-18	1.24932e-18	1	1	0
GPALPP1	55425	broad.mit.edu	37	13	45589121	45589121	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:45589121G>A	ENST00000361121.2	+	5	478	c.443G>A	c.(442-444)gGa>gAa	p.G148E	KIAA1704_ENST00000379151.4_Missense_Mutation_p.G148E|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_5'UTR			Q8IXQ4	K1704_HUMAN		148										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GATATTATTGGACCAATGCCT	0.353000													14	85					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285951	238285951	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:238285951G>A	ENST00000295550.4	-	7	2986	c.2534C>T	c.(2533-2535)tCa>tTa	p.S845L	COL6A3_ENST00000392004.3_Missense_Mutation_p.S639L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S238L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S438L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S639L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S639L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S644L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S645L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	845	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGATTGGCTGAGCCGTCAAA	0.498000													31	95					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67434391	67434391	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:67434391G>T	ENST00000349015.3	-	3	454	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	ALDH3B2_ENST00000531881.1_5'UTR|ALDH3B2_ENST00000530069.1_Silent_p.R6R	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	6					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)	TTCGTGGACCGTGGTTCATCC	0.637000													18	69					1.66031e-10	1.87329e-10	1	1	0
TBATA	219793	broad.mit.edu	37	10	72534993	72534993	+	Missense_Mutation	SNP	C	C	T	rs143227944		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:72534993C>T	ENST00000299290.1	-	8	1113	c.724G>A	c.(724-726)Gac>Aac	p.D242N	TBATA_ENST00000456372.2_Intron	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CTTAGCAAGTCTGTTTCCAGG	0.592000													3	101					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930706	122930706	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:122930706C>T	ENST00000534624.1	-	5	871	c.595G>A	c.(595-597)Gac>Aac	p.D199N	HSPA8_ENST00000526110.1_Missense_Mutation_p.D180N|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000453788.2_Missense_Mutation_p.D199N|HSPA8_ENST00000227378.3_Missense_Mutation_p.D199N|HSPA8_ENST00000532636.1_Missense_Mutation_p.D199N|HSPA8_ENST00000534319.1_5'UTR	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	199	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCTCCCAGGTCAAAGATGAGC	0.413000													4	30					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50052227	50052227	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:50052227A>G	ENST00000376042.1	+	6	1356	c.1058A>G	c.(1057-1059)cAg>cGg	p.Q353R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.Q353R|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	353					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGGCCTTGCAGAAGACCAAC	0.428000													36	82					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205238713	205238713	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:205238713G>A	ENST00000358024.3	+	3	1772	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.L236L|TMCC2_ENST00000329800.7_Silent_p.L221L|TMCC2_ENST00000545499.1_Silent_p.L383L	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	461						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCGGGCACTGAGCGGCAGTG	0.652000													16	81					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87656012	87656012	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:87656012G>T	ENST00000320005.5	-	10	1192	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	382					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCATCTAGTAGTGCCAATTCC	0.348000													41	109					4.86159e-25	6.03025e-25	1	1	0
CHD3	1107	broad.mit.edu	37	17	7796794	7796794	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:7796794A>C	ENST00000380358.4	+	5	878	c.877A>C	c.(877-879)Ata>Cta	p.I293L	CHD3_ENST00000330494.7_Missense_Mutation_p.I234L|CHD3_ENST00000358181.4_Missense_Mutation_p.I234L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	234					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCCACCCCCATAGCACCCTC	0.657000													3	8					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66698733	66698733	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:66698733C>T	ENST00000247815.4	+	2	469	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	137					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTGAGGTCTCCAGTGATGAT	0.343000													18	27					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54763765	54763765	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:54763765G>T	ENST00000307259.8	-	3	843	c.423C>A	c.(421-423)atC>atA	p.I141I	PPAP2A_ENST00000515132.1_5'UTR|PPAP2A_ENST00000264775.5_Silent_p.I142I	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	141					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.I142I(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CGCTGCAGTTGATTTTTGACC	0.438000													33	170					1.58521e-26	1.97895e-26	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													3	49					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087407	39087407	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:39087407T>A	ENST00000400482.3	-	3	642	c.53A>T	c.(52-54)gAt>gTt	p.D18V	KCNJ6_ENST00000288309.6_Missense_Mutation_p.D18V	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	18					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GACGTCCTGATCCATGGAGTC	0.532000													8	17					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70446061	70446061	+	Splice_Site	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:70446061G>T	ENST00000310961.5	+	10	1030		c.e10-1		LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000035383.5_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding	p.?(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCTCTCCCAGCCTGAAGTTC	0.343000													52	138					5.10508e-28	6.4354e-28	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89885588	89885588	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:89885588G>C	ENST00000534061.1	+	6	962	c.732G>C	c.(730-732)caG>caC	p.Q244H	NAALAD2_ENST00000525171.1_Missense_Mutation_p.Q244H|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Q244H|NAALAD2_ENST00000375944.3_Missense_Mutation_p.Q244H	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	244					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGCAGCCCAGAGAGGAAATG	0.473000													7	66					0	0	1	0	0
ABHD17C	58489	broad.mit.edu	37	15	80988326	80988326	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:80988326G>T	ENST00000258884.4	+	1	683	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	ABHD17C_ENST00000558464.1_Missense_Mutation_p.D186Y|ABHD17C_ENST00000560609.1_Intron	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		CCTCTACGCCGACATCGACGC	0.672000													3	6					0.004672	0.00478324	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7618875	7618875	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:7618875A>G	ENST00000256861.6	-	10	1597	c.1519T>C	c.(1519-1521)Ttc>Ctc	p.F507L	ITIH5_ENST00000397146.2_Missense_Mutation_p.F507L|ITIH5_ENST00000298441.6_Missense_Mutation_p.F293L|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.F507L|ITIH5_ENST00000446830.2_Missense_Mutation_p.F289L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	507					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGCCGTTGAAGTAGTTGGGG	0.552000													3	117					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42949857	42949857	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:42949857C>T	ENST00000350427.4	-	2	918	c.643G>A	c.(643-645)Gag>Aag	p.E215K	C7orf25_ENST00000438029.1_Missense_Mutation_p.E215K|C7orf25_ENST00000431882.2_Missense_Mutation_p.E273K|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.E215K			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	215										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TCAGGGCCCTCATCATCTGAT	0.443000													4	57					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059736	248059736	+	Missense_Mutation	SNP	C	C	T	rs141996133	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:248059736C>T	ENST00000537741.1	+	3	1105	c.848C>T	c.(847-849)cCc>cTc	p.P283L	OR2W3_ENST00000360358.3_Missense_Mutation_p.P283L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATTGTCACCCCCCTCCTCAAT	0.507000													19	38					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91645567	91645567	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:91645567G>A	ENST00000359028.2	+	12	3998	c.3773G>A	c.(3772-3774)aGa>aAa	p.R1258K	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1258K|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1246K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1258					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAGATTATAGATATGAAGTT	0.259000			T	BRAF	papillary thyroid								4	26					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49228113	49228113	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:49228113C>G	ENST00000222145.4	-	9	2436	c.2232G>C	c.(2230-2232)ttG>ttC	p.L744F		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	744	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGGTAGGTCTCAATCCTGGAG	0.602000													11	95					0	0	1	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073336	3073336	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:3073336G>C	ENST00000248089.3	-	3	483	c.179C>G	c.(178-180)tCt>tGt	p.S60C	HCFC1R1_ENST00000354679.3_Missense_Mutation_p.S58C|HCFC1R1_ENST00000572355.1_Missense_Mutation_p.S20C|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.S60C|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.S60C|HCFC1R1_ENST00000574151.1_Missense_Mutation_p.S41C	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	60						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GTTCTCCTCAGACAGAAACTG	0.617000													35	106					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228333325	228333325	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:228333325C>T	ENST00000366721.1	+	2	146	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	GUK1_ENST00000366716.1_Splice_Site_p.H38_splice|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366718.1_Splice_Site_p.H38_splice|GUK1_ENST00000366730.1_Splice_Site_p.H38_splice|GUK1_ENST00000366722.1_Splice_Site_p.H38_splice|GUK1_ENST00000312726.4_Splice_Site_p.H38_splice|GUK1_ENST00000391865.3_Splice_Site_p.H59_splice|GUK1_ENST00000366723.1_Splice_Site_p.H59_splice|GUK1_ENST00000366726.1_Splice_Site_p.H38_splice|GUK1_ENST00000366728.2_Splice_Site_p.H59_splice			Q16774	KGUA_HUMAN	guanylate kinase 1	38	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CAGCGTGTCCCGTGAGTCCAG	0.642000													5	25					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													10	154					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51639633	51639633	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:51639633G>A	ENST00000375695.2	+	5	1203	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.V294V|MAGED1_ENST00000375772.3_Silent_p.V294V|MAGED1_ENST00000326587.7_Silent_p.V294V	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	294	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCCCCAATGTGCTCTGGCAGA	0.647000										Multiple Myeloma(10;0.10)			6	36					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22079057	22079057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:22079057G>A	ENST00000308271.9	-	5	1276	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	USP48_ENST00000529637.1_Nonsense_Mutation_p.Q210*|USP48_ENST00000400301.1_Nonsense_Mutation_p.Q210*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q210*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	210					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.Q210*(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AACTGCTGTTGAACAATATTG	0.343000													19	73					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129185863	129185863	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:129185863C>A	ENST00000540052.1	+	11	4769	c.4725C>A	c.(4723-4725)ctC>ctA	p.L1575L	BCORL1_ENST00000359304.2_Silent_p.L1445L|BCORL1_ENST00000218147.7_Silent_p.L1575L|BCORL1_ENST00000303743.5_Silent_p.L1649L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1575					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTGTGACCTCCTACATAATC	0.468000													48	197					4.33383e-22	5.32442e-22	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101530409	101530409	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:101530409G>C	ENST00000353234.4	-	11	2143	c.2096C>G	c.(2095-2097)tCt>tGt	p.S699C	ANKS6_ENST00000375018.1_Missense_Mutation_p.S699C|ANKS6_ENST00000375019.2_Missense_Mutation_p.S398C|ANKS6_ENST00000540940.1_Missense_Mutation_p.S504C			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	699	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGAAGCTCAGACGGGCTGGA	0.577000													3	15					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082199	16082199	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:16082199T>A	ENST00000281043.3	+	2	310	c.13T>A	c.(13-15)Tcc>Acc	p.S5T	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	5					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCCGAGCTGCTCCACGTCCAC	0.632000			A		neuroblastoma								27	50					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418769	64418769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:64418769G>T	ENST00000265459.6	-	14	3337	c.2876C>A	c.(2875-2877)tCg>tAg	p.S959*	NRXN2_ENST00000377559.3_Nonsense_Mutation_p.S919*|NRXN2_ENST00000377551.1_Nonsense_Mutation_p.S959*|NRXN2_ENST00000409571.1_Nonsense_Mutation_p.S952*|AP001092.4_ENST00000433606.1_RNA	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	959	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCGTTGCCCGAGTTGAACAG	0.592000											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	53					8.28177e-16	9.74178e-16	1	1	0
PLIN2	123	broad.mit.edu	37	9	19126171	19126171	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:19126171G>C	ENST00000276914.2	-	3	346	c.167C>G	c.(166-168)aCc>aGc	p.T56S	PLIN2_ENST00000380465.3_Missense_Mutation_p.T56S|PLIN2_ENST00000411567.1_Missense_Mutation_p.T56S|PLIN2_ENST00000380464.3_Missense_Mutation_p.T56S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	56					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GGAGGTGATGGTCTTCACACC	0.512000													41	57					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5265144	5265144	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:5265144C>A	ENST00000372412.4	-	5	676	c.443G>T	c.(442-444)cGg>cTg	p.R148L	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.R148L|PTPRS_ENST00000588012.1_Missense_Mutation_p.R148L|PTPRS_ENST00000353284.2_Missense_Mutation_p.R148L|PTPRS_ENST00000348075.2_Missense_Mutation_p.R148L|PTPRS_ENST00000592099.1_Missense_Mutation_p.R148L|PTPRS_ENST00000262963.6_Missense_Mutation_p.R148L|PTPRS_ENST00000587303.1_Missense_Mutation_p.R148L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	148	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGTCCGTGTCCGCTCCACCAC	0.592000													26	112					2.80507e-11	3.20225e-11	1	1	0
ATG9A	79065	broad.mit.edu	37	2	220089048	220089048	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:220089048C>T	ENST00000409618.1	-	8	1484	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	ATG9A_ENST00000396761.2_Missense_Mutation_p.E349K|ATG9A_ENST00000361242.4_Missense_Mutation_p.E349K|ATG9A_ENST00000409422.1_Missense_Mutation_p.E288K			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	349					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTGCAGCTCGTGCTCCAGC	0.602000													7	56					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98510751	98510751	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:98510751C>T	ENST00000265261.6	+	9	891	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.H275Y|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.H275Y	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	275					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TCACGAAGTTCACCTAGCTGG	0.388000													11	133					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61508294	61508294	+	Silent	SNP	A	A	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:61508294A>C	ENST00000398571.2	-	38	5158	c.5082T>G	c.(5080-5082)tcT>tcG	p.S1694S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1694					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAGCAGAAAAGAACGATTGA	0.403000													7	34					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900953	123900953	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:123900953C>A	ENST00000431524.1	+	1	657	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGCCTCGGGCTGCTTTGTCC	0.532000													23	127					3.65163e-15	4.26943e-15	1	1	0
ZBTB7C	201501	broad.mit.edu	37	18	45567211	45567211	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:45567211C>G	ENST00000588982.1	-	3	769	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E90Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E90Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E90Q|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E90Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	90	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TAGGCGAACTCCAGGATAGCA	0.562000													5	83					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194899	19194899	+	Silent	SNP	C	C	T	rs146673931	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:19194899C>T	ENST00000562034.1	+	3	3996	c.198C>T	c.(196-198)atC>atT	p.I66I	SYT17_ENST00000568115.1_Silent_p.I66I|SYT17_ENST00000355377.2_Silent_p.I127I|SYT17_ENST00000562711.2_Silent_p.I123I			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	127				S -> G (in Ref. 1; AAF37825).		membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TTAAACCCATCGAGTTTGGCG	0.527000													23	89					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75119126	75119126	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:75119126G>C	ENST00000395018.4	+	1	239	c.82G>C	c.(82-84)Gat>Cat	p.D28H	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	28						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGATAAGGGAGATGGGGACAA	0.622000													7	62					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38158179	38158179	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:38158179T>A	ENST00000379747.4	-	9	1287	c.1170A>T	c.(1168-1170)caA>caT	p.Q390H	POSTN_ENST00000379742.4_Missense_Mutation_p.Q390H|POSTN_ENST00000379749.4_Missense_Mutation_p.Q390H|POSTN_ENST00000541481.1_Missense_Mutation_p.Q390H|POSTN_ENST00000541179.1_Missense_Mutation_p.Q390H|POSTN_ENST00000379743.4_Missense_Mutation_p.Q390H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	390	FAS1 3.				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)		CCAAGCCTAATTGGGCCACAA	0.453000													14	32					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827973	40827973	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:40827973G>T	ENST00000373198.3	-	17	2699	c.2464C>A	c.(2464-2466)Cct>Act	p.P822T	PTPRT_ENST00000373190.1_Missense_Mutation_p.P800T|PTPRT_ENST00000373187.1_Missense_Mutation_p.P800T|PTPRT_ENST00000373201.1_Missense_Mutation_p.P790T|PTPRT_ENST00000373193.3_Missense_Mutation_p.P803T|PTPRT_ENST00000373184.1_Missense_Mutation_p.P790T|PTPRT_ENST00000356100.2_Missense_Mutation_p.P809T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	800					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGCCACAGGCCCCATCTCC	0.557000													48	142					6.27289e-28	7.88185e-28	1	1	0
NAV3	89795	broad.mit.edu	37	12	78594363	78594363	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:78594363G>C	ENST00000397909.2	+	38	6999	c.6826G>C	c.(6826-6828)Ggt>Cgt	p.G2276R	NAV3_ENST00000541270.1_Missense_Mutation_p.G106R|NAV3_ENST00000228327.6_Missense_Mutation_p.G2254R|NAV3_ENST00000266692.7_Missense_Mutation_p.G2077R|NAV3_ENST00000536525.2_Missense_Mutation_p.G2254R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2276						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						AGTGAGAGAGGGTCTTCAGGT	0.318000										HNSCC(70;0.22)			16	48					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6607417	6607417	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:6607417G>A	ENST00000264670.6	-	13	1715	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	NSUN2_ENST00000506139.1_Silent_p.P433P|NSUN2_ENST00000539938.1_Silent_p.P232P	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	468						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCAGCTTAGAGGGATCTGTGG	0.458000													40	131					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281355	152281355	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:152281355C>G	ENST00000368799.1	-	3	6042	c.6007G>C	c.(6007-6009)Gaa>Caa	p.E2003Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2003	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)			CCATGTCTTTCTCCTGCACTT	0.547000									Ichthyosis				104	1558					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48937091	48937091	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:48937091G>A	ENST00000267163.4	+	8	997	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	287					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATATAGATGAGGTAATTTA	0.308000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			6	31					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456135	5456135	+	Silent	SNP	A	A	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:5456135A>C	ENST00000222033.4	+	1	710	c.633A>C	c.(631-633)tcA>tcC	p.S211S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	211	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCATCCCCTCAGTGTTCGTGA	0.677000													12	234					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2896288	2896288	+	Splice_Site	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:2896288G>A	ENST00000380698.4	-	3	394	c.306_splice	c.e3+1	p.S102_splice		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	102					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.S102L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCAACTTACTGAGAGGAACTG	0.418000													18	47					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285914	41285914	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:41285914G>A	ENST00000347132.5	+	7	1105	c.1023G>A	c.(1021-1023)ccG>ccA	p.P341P	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.P341P	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	341					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGAGGATGCCGGCAGCCAACC	0.612000													3	28					0	0	1	0	0
COA4	51287	broad.mit.edu	37	11	73584372	73584372	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:73584372C>G	ENST00000541455.1	-	2	472	c.79G>C	c.(79-81)Gac>Cac	p.D27H	COA4_ENST00000545127.1_Missense_Mutation_p.D18H|COA4_ENST00000537289.1_Missense_Mutation_p.D18H|COA4_ENST00000355693.4_Missense_Mutation_p.D18H					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		TCCTCATCGTCTTTCTTCACC	0.567000													19	121					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879337	151879337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:151879337G>A	ENST00000355193.2	-	36	5826	c.5608C>T	c.(5608-5610)Cag>Tag	p.Q1870*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1870*					lysine (K)-specific methyltransferase 2C																		GTCTGAGCCTGAGAAAGACTA	0.512000													16	108					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277068	152277068	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:152277068C>G	ENST00000368799.1	-	3	10329	c.10294G>C	c.(10294-10296)Gac>Cac	p.D3432H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3432	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)			CGAATGGTGTCCTGACCCTCT	0.607000									Ichthyosis				119	905					0	0	1	0	0
DZANK1	55184	broad.mit.edu	37	20	18377119	18377119	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:18377119G>T	ENST00000357236.4	-	16	1925	c.1266C>A	c.(1264-1266)aaC>aaA	p.N422K	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Missense_Mutation_p.N536K|DZANK1_ENST00000329494.5_Missense_Mutation_p.N538K|DZANK1_ENST00000377630.5_Missense_Mutation_p.N369K			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	363						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TACTCACCTTGTTTGAGACTT	0.353000													23	99					5.45727e-16	6.43891e-16	1	1	0
KCNIP2	30819	broad.mit.edu	37	10	103588909	103588909	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:103588909C>T	ENST00000358038.3	-	3	568	c.217G>A	c.(217-219)Gag>Aag	p.E73K	KCNIP2_ENST00000353068.3_Missense_Mutation_p.E41K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E106K|KCNIP2_ENST00000356640.2_Missense_Mutation_p.E91K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E41K|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E41K|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E46K	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	91					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TCCAGACCCTCAGGCCGGTGA	0.622000													12	69					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774517	98774517	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:98774517G>A	ENST00000407474.3	+	4	1141	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AAAACAATTTGAAGAAATGGC	0.313000													4	3					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430403	149430403	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:149430403C>T	ENST00000255992.10	+	18	2756	c.2357C>T	c.(2356-2358)tCc>tTc	p.S786F	KRBA1_ENST00000485033.2_Missense_Mutation_p.S726F|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.S726F	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	787	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCCAGCCTCCTCCCTGCAG	0.701000													11	52					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864591	30864591	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr22:30864591C>A	ENST00000403066.1	-	6	433	c.150G>T	c.(148-150)aaG>aaT	p.K50N	SEC14L3_ENST00000401751.1_Missense_Mutation_p.K50N|SEC14L3_ENST00000402286.1_Missense_Mutation_p.K32N|SEC14L3_ENST00000215812.4_Missense_Mutation_p.K109N|SEC14L3_ENST00000540910.1_Missense_Mutation_p.K32N|SEC14L3_ENST00000415957.2_Missense_Mutation_p.K50N|SEC14L3_ENST00000539629.1_Missense_Mutation_p.K50N			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	109						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGAGCAACCCCTTGGGATCAA	0.567000													9	193					0.000442599	0.000459212	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16980277	16980277	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:16980277G>C	ENST00000379803.1	+	14	1923	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	SIN3B_ENST00000595541.1_Missense_Mutation_p.E195Q|SIN3B_ENST00000248054.5_Missense_Mutation_p.E605Q	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	637					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACAGCACCAGGAGCAGCACTC	0.647000													5	27					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584491	42584491	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:42584491C>T	ENST00000600245.1	+	2	2388	c.1733C>T	c.(1732-1734)cCc>cTc	p.P578L	ZNF574_ENST00000222339.7_Missense_Mutation_p.P668L|ZNF574_ENST00000359044.4_Missense_Mutation_p.P578L			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCACTTCCCCTACCGCTGC	0.607000													11	57					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44782154	44782154	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:44782154G>T	ENST00000266534.3	+	8	1371	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G311V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	415						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGGTTCTTTGGACGATTTTTG	0.418000													18	53					1.02788e-11	1.18039e-11	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43924091	43924091	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:43924091G>T	ENST00000329196.5	+	1	1836	c.1819G>T	c.(1819-1821)Gcc>Tcc	p.A607S	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	607						integral to membrane	aspartic-type endopeptidase activity										CTGGAGTGACGCCCACTTGGA	0.577000													9	105					0.0581538	0.0589149	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27518426	27518426	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:27518426C>A	ENST00000356183.4	-	9	1309	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V432L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	432						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552000													30	83					5.6714e-07	6.14799e-07	1	1	0
KLHDC3	116138	broad.mit.edu	37	6	42985036	42985036	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:42985036G>A	ENST00000326974.4	+	2	301	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	KLHDC3_ENST00000244670.8_5'UTR|KLHDC3_ENST00000332245.8_Missense_Mutation_p.E36K	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	36					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGCTCTGGTGAAGACTATGA	0.597000													20	136					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7184613	7184613	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:7184613C>A	ENST00000341500.5	-	3	727	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S	INSR_ENST00000302850.5_Missense_Mutation_p.A230S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	230	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCCTTCGGCGGTGCAGCCG	0.502000													10	32					7.03913e-09	7.78326e-09	1	1	0
ATRIP	84126	broad.mit.edu	37	3	48488255	48488255	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:48488255G>A	ENST00000320211.3	+	1	119	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ATRIP_ENST00000357105.6_Intron|ATRIP_ENST00000346691.4_Silent_p.A2A	NM_130384.1	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	2					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAGCATGGCGGGGACCTCCG	0.766000								Other conserved DNA damage response genes					15	38					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24892237	24892237	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:24892237C>A	ENST00000313367.2	-	11	1495	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	OSBPL3_ENST00000409069.1_Missense_Mutation_p.R317S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.R317S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.R317S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.R348S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.R317S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.R348S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	348					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAAAAGCTGACCTTAAAGTGA	0.373000													16	33					5.03518e-11	5.73122e-11	1	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117431835	117431835	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:117431835C>G	ENST00000160373.3	-	4	1506	c.1415G>C	c.(1414-1416)aGa>aCa	p.R472T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	472	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CGAGACATCTCTTGACGGAGG	0.478000													8	448					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78384334	78384334	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:78384334G>T	ENST00000255192.3	+	8	1095	c.1029G>T	c.(1027-1029)tgG>tgT	p.W343C	BHMT2_ENST00000521567.1_Missense_Mutation_p.W279C|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	343					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGGAGTATTGGGAGAATCTGC	0.373000													19	63					5.49717e-05	5.81258e-05	1	1	0
OR10S1	219873	broad.mit.edu	37	11	123848020	123848020	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:123848020A>T	ENST00000531945.1	-	1	468	c.379T>A	c.(379-381)Ttc>Atc	p.F127I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGTACAGGAAGCACTCAGTG	0.542000													9	37					0	0	1	0	0
RRAGA	10670	broad.mit.edu	37	9	19049667	19049667	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:19049667A>G	ENST00000380527.1	+	1	296	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	4					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GATGCCAAATACAGCCATGAA	0.657000													6	14					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203027	140203027	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:140203027A>G	ENST00000529859.1	+	1	1667	c.1667A>G	c.(1666-1668)gAc>gGc	p.D556G	PCDHA5_ENST00000378126.3_Missense_Mutation_p.D556G|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D556G|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGCTGGACGAGAACGAC	0.706000													34	66					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5711936	5711936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:5711936G>C	ENST00000360614.3	-	4	873	c.716C>G	c.(715-717)tCa>tGa	p.S239*	LONP1_ENST00000540670.2_Nonsense_Mutation_p.S43*|LONP1_ENST00000593119.1_Nonsense_Mutation_p.S175*|LONP1_ENST00000585374.1_Nonsense_Mutation_p.S125*|LONP1_ENST00000590729.1_Nonsense_Mutation_p.S125*	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	239	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCCGCTTTGACTTCCTGCG	0.667000													11	55					0	0	1	0	0
NUDT1	4521	broad.mit.edu	37	7	2284283	2284283	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:2284283G>A	ENST00000397049.1	+	3	245	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	NUDT1_ENST00000397048.1_Missense_Mutation_p.R48Q|NUDT1_ENST00000397046.1_Missense_Mutation_p.R25Q|NUDT1_ENST00000356714.1_Missense_Mutation_p.R25Q|NUDT1_ENST00000343985.4_Missense_Mutation_p.R48Q|NUDT1_ENST00000339737.2_Missense_Mutation_p.R25Q	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	66	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		ATGAAAAAGCGAGGCTTCGGG	0.612000								Modulation of nucleotide pools					3	25					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5798755	5798755	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:5798755G>T	ENST00000382674.2	+	14	2077	c.1893G>T	c.(1891-1893)acG>acT	p.T631T	EVC_ENST00000264956.6_Silent_p.T631T|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	631					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAAGGTCCACGCGGTGTGTCC	0.642000													25	94					1.90571e-15	2.23488e-15	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205238648	205238648	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:205238648G>C	ENST00000358024.3	+	3	1707	c.1318G>C	c.(1318-1320)Gac>Cac	p.D440H	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.D215H|TMCC2_ENST00000329800.7_Missense_Mutation_p.D200H|TMCC2_ENST00000545499.1_Missense_Mutation_p.D362H	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	440						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGCAGTGCTGACAACATCGC	0.652000													20	112					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746189	156746189	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:156746189G>A	ENST00000470811.1	+	13	2089	c.754G>A	c.(754-756)Gag>Aag	p.E252K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E556K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	67										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTCCCAGGAAGAGGTAGGAAG	0.388000													4	52					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149456977	149456977	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:149456977C>G	ENST00000286301.3	-	6	1042	c.751G>C	c.(751-753)Gac>Cac	p.D251H	CSF1R_ENST00000543093.1_Missense_Mutation_p.D251H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	251	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTATGAAAGTCAGATTGTTGA	0.468000													16	141					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30938414	30938414	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:30938414A>T	ENST00000298139.5	+	9	1120	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	291					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TATTTCAGAAAATCTATATTC	0.308000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				8	20					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													4	37					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75189909	75189909	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:75189909C>T	ENST00000352410.4	+	8	1177	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	MPI_ENST00000566377.1_3'UTR|MPI_ENST00000323744.6_Silent_p.L309L|MPI_ENST00000563786.1_Silent_p.L350L|MPI_ENST00000535694.1_Silent_p.L320L			P34949	MPI_HUMAN	mannose phosphate isomerase	370					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCAGCATCCTCCTGATGGTAC	0.552000													13	72					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045844	167045844	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:167045844C>T	ENST00000392766.2	-	11	1088	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	ZBBX_ENST00000455345.2_Missense_Mutation_p.E250K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E250K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E221K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.E250K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	250						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATGACCCTTCACACAACAGA	0.363000													4	158					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131285898	131285898	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:131285898G>A	ENST00000309971.4	+	6	776	c.670G>A	c.(670-672)Gag>Aag	p.E224K	GLE1_ENST00000372770.4_Missense_Mutation_p.E224K|GLE1_ENST00000539582.1_5'UTR	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	224					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GCGGGAAGCAGAGCAGCAGCG	0.552000													13	169					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483864	137483864	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:137483864C>T	ENST00000306087.1	+	1	286	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	80					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GTACCGACCTCGGCGCAAGCC	0.622000													25	46					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798913	119798913	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:119798913C>G	ENST00000355624.3	-	3	1274	c.835G>C	c.(835-837)Gat>Cat	p.D279H	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.D279H|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	279					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTAGAAGTATCAAAGCTTAAT	0.358000													16	96					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609009	115609009	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:115609009C>T	ENST00000361384.2	-	2	2772	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E619K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	619					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGCTGACTCTCATGTAAAGTA	0.403000								Other identified genes with known or suspected DNA repair function					13	100					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967043	46967043	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:46967043G>C	ENST00000264318.3	-	8	2060	c.1078C>G	c.(1078-1080)Cag>Gag	p.Q360E		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	360					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAACTTCCTGAGGGGGCTTT	0.438000													19	73					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248301	75248301	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr14:75248301C>G	ENST00000325680.7	+	4	1679	c.1555C>G	c.(1555-1557)Cct>Gct	p.P519A	YLPM1_ENST00000552421.1_Missense_Mutation_p.P519A|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AATGCCACCTCCTTTTGTTCC	0.502000													4	124					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087336	9087336	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:9087336G>T	ENST00000397910.4	-	1	4682	c.4479C>A	c.(4477-4479)tcC>tcA	p.S1493S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1493	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						GAGAAGGTGTGGACATAGGTG	0.428000													67	145					3.90494e-43	5.00402e-43	1	1	0
WDR1	9948	broad.mit.edu	37	4	10084702	10084702	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:10084702G>C	ENST00000382452.2	-	10	1422	c.1140C>G	c.(1138-1140)atC>atG	p.I380M	WDR1_ENST00000382451.2_Missense_Mutation_p.I240M|WDR1_ENST00000502702.1_Missense_Mutation_p.I240M|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.I380M	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	380					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TGCTGCAGCTGATGAGCTGCC	0.612000													9	53					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494244	111494244	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:111494244G>C	ENST00000369763.4	-	2	1652	c.1262C>G	c.(1261-1263)tCt>tGt	p.S421C	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATCTGGGAAGATTTACTTTT	0.408000													26	230					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256495	16256495	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:16256495G>C	ENST00000375759.3	+	11	3964	c.3760G>C	c.(3760-3762)Gat>Cat	p.D1254H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1254					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.D1254N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATCAGCGAAGATTCTGAAAG	0.473000													7	70					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1257182	1257182	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:1257182G>C	ENST00000300952.2	+	8	1833	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	MIDN_ENST00000591446.2_Missense_Mutation_p.E440Q	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	440						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCCAGCGAGGCCTCCGG	0.672000													8	68					0	0	1	0	0
TPM4	7171	broad.mit.edu	37	19	16186908	16186908	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:16186908G>T	ENST00000538887.1	+	2	253	c.166G>T	c.(166-168)Gag>Tag	p.E56*	TPM4_ENST00000344824.6_Nonsense_Mutation_p.E56*			P67936	TPM4_HUMAN	tropomyosin 4	20					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GACAGAGGACGAGCTGGATAA	0.617000			T	ALK	ALCL								3	7					0.000602214	0.000623147	1	1	0
FOXK2	3607	broad.mit.edu	37	17	80545122	80545122	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:80545122C>G	ENST00000335255.5	+	8	1934	c.1760C>G	c.(1759-1761)aCt>aGt	p.T587S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	587					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCAGTCCCCACTGCGGTCCAC	0.562000													9	77					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62652675	62652675	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:62652675C>T	ENST00000377892.1	+	10	1465	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	SLC3A2_ENST00000377889.2_Missense_Mutation_p.S321F|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377890.2_Missense_Mutation_p.S383F|SLC3A2_ENST00000377891.2_Missense_Mutation_p.S384F|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.S282F|SLC3A2_ENST00000535296.1_Missense_Mutation_p.S352F			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	383					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTAACTCCTCCGACCTTCAG	0.522000													20	119					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52978011	52978011	+	Silent	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr14:52978011A>G	ENST00000281741.4	-	9	1074	c.703T>C	c.(703-705)Ttg>Ctg	p.L235L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	235					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGTGTAGTCAATGGCTGTTCC	0.358000													29	51					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616566	116616566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:116616566G>A	ENST00000395715.3	-	4	2207	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.R535*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.R531*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.R531*|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	531					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGGAATATCGGAAGTCACAG	0.453000									Langer-Giedion syndrome				12	112					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71709041	71709041	+	Silent	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:71709041G>C	ENST00000258104.3	+	3	454	c.177G>C	c.(175-177)ctG>ctC	p.L59L	DYSF_ENST00000413539.2_Silent_p.L59L|DYSF_ENST00000409651.1_Silent_p.L60L|DYSF_ENST00000409744.1_Silent_p.L60L|DYSF_ENST00000409366.1_Silent_p.L60L|DYSF_ENST00000409582.3_Silent_p.L59L|DYSF_ENST00000409762.1_Silent_p.L59L|DYSF_ENST00000410041.1_Silent_p.L60L|DYSF_ENST00000394120.2_Silent_p.L60L|DYSF_ENST00000410020.3_Silent_p.L60L|DYSF_ENST00000429174.2_Silent_p.L59L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	59	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCATCCCCCTGGACCAGGGCT	0.542000													12	44					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123163	81123163	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:81123163C>T	ENST00000339711.4	+	10	1778	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	PRDM8_ENST00000415738.2_Missense_Mutation_p.H183Y|PRDM8_ENST00000504452.1_Missense_Mutation_p.H183Y	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CAAGAGACTTCACAGCGCTGA	0.617000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	124					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013218	44013218	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:44013218C>A	ENST00000269439.7	+	2	178	c.127C>A	c.(127-129)Ccg>Acg	p.P43T	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	43							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTGGGCCCCCCGCAGCCGCA	0.687000													8	26					6.40141e-05	6.73192e-05	1	1	0
SPEN	23013	broad.mit.edu	37	1	16257455	16257455	+	Missense_Mutation	SNP	G	G	A	rs138972634		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:16257455G>A	ENST00000375759.3	+	11	4924	c.4720G>A	c.(4720-4722)Gat>Aat	p.D1574N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1574					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCACAACTGATTCCATTCA	0.428000													10	48					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178548720	178548720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:178548720G>T	ENST00000251582.7	-	21	3221	c.3120C>A	c.(3118-3120)taC>taA	p.Y1040*		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1040					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACTGAACTACGTAGCTCTTCT	0.632000													285	259					1.11693e-160	1.43605e-160	1	1	0
MIB1	57534	broad.mit.edu	37	18	19426986	19426986	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:19426986G>A	ENST00000261537.6	+	16	2557	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	765					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CAATGGTGCTGACCTGAGCAT	0.453000													21	91					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190335	58190335	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:58190335T>C	ENST00000302581.2	-	1	451	c.400A>G	c.(400-402)Atg>Gtg	p.M134V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGGCCGTCATGGTGGTGGTG	0.517000													11	44					0	0	1	0	0
RAB12	201475	broad.mit.edu	37	18	8638193	8638193	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:8638193C>T	ENST00000329286.6	+	6	951	c.668C>T	c.(667-669)tCg>tTg	p.S223L		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	223					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						AGTATCCTGTCGTTACAACCA	0.398000													3	69					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163815	12163815	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:12163815C>T	ENST00000379388.2	+	9	7610	c.7278C>T	c.(7276-7278)ctC>ctT	p.L2426L	HIVEP1_ENST00000541134.1_Silent_p.L291L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2426					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTGCAGCTCACGATCCCTG	0.527000													20	137					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849410	73849410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:73849410C>A	ENST00000523207.1	+	3	2408	c.1820C>A	c.(1819-1821)aCc>aAc	p.T607N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	607					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GACAGCTTCACCAGCTGTGCC	0.587000													34	139					1.67305e-13	1.94435e-13	1	1	0
IFI16	3428	broad.mit.edu	37	1	159021577	159021577	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:159021577G>C	ENST00000295809.7	+	10	2029	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q	IFI16_ENST00000448393.2_Missense_Mutation_p.E480Q|IFI16_ENST00000368132.3_Missense_Mutation_p.E536Q|IFI16_ENST00000430894.2_Missense_Mutation_p.E540Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E480Q|IFI16_ENST00000368131.4_Missense_Mutation_p.E536Q|IFI16_ENST00000359709.3_Missense_Mutation_p.E536Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	592	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTGTATATGAGCCCAAAGA	0.418000													9	165					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115602234	115602234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:115602234C>A	ENST00000361384.2	-	6	3450	c.2533G>T	c.(2533-2535)Gaa>Taa	p.E845*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E845*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	845					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAGGTGTATTCTGGGCTACAA	0.413000								Other identified genes with known or suspected DNA repair function					44	159					8.72198e-27	1.09236e-26	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133910	91133910	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:91133910A>T	ENST00000373094.1	+	2	3516	c.2671A>T	c.(2671-2673)Act>Tct	p.T891S	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T891S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	891					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TATTGAAGAAACTAAGGCAGA	0.373000													10	73					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48736790	48736790	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:48736790C>T	ENST00000544117.2	-	6	1991	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	ZNF641_ENST00000547026.1_Missense_Mutation_p.R414Q|ZNF641_ENST00000301042.3_Missense_Mutation_p.R428Q|ZNF641_ENST00000448928.3_Missense_Mutation_p.R405Q			Q96N77	ZN641_HUMAN	zinc finger protein 641	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCAGCTGTTCCGGGGACTTTG	0.557000													19	72					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713853	183713853	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:183713853G>A	ENST00000511685.1	+	26	6151	c.6028G>A	c.(6028-6030)Gat>Aat	p.D2010N	TENM3_ENST00000406950.2_Missense_Mutation_p.D2010N					teneurin transmembrane protein 3																		CTTTAGTGAAGATGGGATGGT	0.433000													30	319					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6607434	6607434	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:6607434C>T	ENST00000264670.6	-	13	1698	c.1387G>A	c.(1387-1389)Ggg>Agg	p.G463R	NSUN2_ENST00000506139.1_Missense_Mutation_p.G428R|NSUN2_ENST00000539938.1_Missense_Mutation_p.G227R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	463						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.G463W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GTGGGTTTCCCTTCTGTGAGA	0.458000													32	98					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211364	37211364	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:37211364C>G	ENST00000585696.1	+	3	2875	c.1645C>G	c.(1645-1647)Caa>Gaa	p.Q549E	ZNF567_ENST00000536254.2_Missense_Mutation_p.Q580E|ZNF567_ENST00000360729.4_Missense_Mutation_p.Q549E|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q549E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q549E			Q8N184	ZN567_HUMAN	zinc finger protein 567	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCATCATCAAAGAACTCA	0.413000													12	76					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47262451	47262451	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:47262451C>A	ENST00000396220.1	-	26	3472	c.3450G>T	c.(3448-3450)aaG>aaT	p.K1150N	PREX1_ENST00000371941.3_Missense_Mutation_p.K1150N			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1150					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCGGCCACCTTGAAGCACA	0.602000													10	52					4.68919e-08	5.15544e-08	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18882043	18882043	+	Silent	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:18882043G>C	ENST00000388995.6	-	5	1159	c.936C>G	c.(934-936)ctC>ctG	p.L312L	FAM83G_ENST00000585154.2_Silent_p.L312L|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.L312L|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	312										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGATGCCCTTGAGGCTCACAC	0.607000													21	107					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39340508	39340508	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:39340508C>T	ENST00000221419.5	-	1	465	c.99G>A	c.(97-99)gtG>gtA	p.V33V	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	33					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ccgccATCTTCACCATCGCTC	0.756000													4	17					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52902467	52902467	+	Silent	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:52902467T>C	ENST00000371544.3	-	26	4381	c.4119A>G	c.(4117-4119)ccA>ccG	p.P1373P	ZCCHC11_ENST00000257177.4_Silent_p.P1374P	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1373					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTTGACCTCTGGGCACTCCC	0.483000													110	331					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50681630	50681630	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:50681630G>A	ENST00000355832.5	-	14	2680	c.2602C>T	c.(2602-2604)Ctg>Ttg	p.L868L	ERCC6_ENST00000542458.1_Silent_p.L238L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	868	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTATGTCCAGCATCTGTTTG	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)					43	120					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29640781	29640781	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:29640781C>A	ENST00000318184.5	-	7	736	c.737G>T	c.(736-738)gGt>gTt	p.G246V		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	246	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GATTCCACCACCTCTTCTACA	0.438000													7	12					0.000442599	0.000459212	1	1	0
EED	8726	broad.mit.edu	37	11	85975297	85975297	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:85975297C>G	ENST00000263360.6	+	7	1404	c.718C>G	c.(718-720)Cta>Gta	p.L240V	EED_ENST00000327320.4_Missense_Mutation_p.L240V|EED_ENST00000528180.1_Missense_Mutation_p.L240V|EED_ENST00000351625.6_Missense_Mutation_p.L240V	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	240	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGATGAAGTTCTAAGTGCTGT	0.408000													4	149					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46520276	46520276	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:46520276C>T	ENST00000263284.2	+	12	1316	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	CCDC61_ENST00000595358.1_Missense_Mutation_p.S420F|CCDC61_ENST00000594087.1_Missense_Mutation_p.S240F|CCDC61_ENST00000536603.1_Missense_Mutation_p.S240F					coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CGCTGCTCGTCTGCCAGCTCC	0.622000											OREG0025565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244549	48244549	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:48244549G>A	ENST00000263277.3	+	6	1743	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	EHD2_ENST00000538399.1_Missense_Mutation_p.D362N|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	498	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGTGGACCGCGACGGCATGCT	0.667000													16	47					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672907	186672907	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:186672907G>C	ENST00000343098.5	+	17	19141	c.19141G>C	c.(19141-19143)Gca>Cca	p.A6381P	FSIP2_ENST00000424728.1_Missense_Mutation_p.A6292P	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATGGTGAATGCAATTTCGAA	0.323000													15	35					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048678	42048678	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:42048678C>G	ENST00000372584.1	-	3	2805	c.1791G>C	c.(1789-1791)ttG>ttC	p.L597F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.L597F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L597F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L597F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	597	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.L597F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATTCCCCTCCCAAAGGTAATT	0.567000													26	88					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145537233	145537233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:145537233C>T	ENST00000369304.3	+	19	2579	c.2404C>T	c.(2404-2406)Caa>Taa	p.Q802*	ITGA10_ENST00000539363.1_Nonsense_Mutation_p.Q659*|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.Q671*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	802					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGTGCTTCAAGTGAATAT	0.532000													18	120					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099082	168099082	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:168099082G>A	ENST00000409195.1	+	9	1269	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E394K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E172K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	219					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCTAAAGACTGAAAGTGAATA	0.448000													46	149					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758101	141758101	+	Silent	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:141758101T>C	ENST00000475668.2	+	31	3846	c.3792T>C	c.(3790-3792)gaT>gaC	p.D1264D	MGAM_ENST00000549489.2_Silent_p.D1264D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1264	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.D1264D(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTTGTATGATGAGATGGTGG	0.502000													80	213					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659392	52659392	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:52659392C>T	ENST00000322146.8	-	5	2065	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.R515Q	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TATCTTATGTCGAGTGAGTAA	0.378000													18	46					0	0	1	0	0
FGF22	27006	broad.mit.edu	37	19	643278	643278	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:643278C>G	ENST00000215530.5	+	2	289	c.258C>G	c.(256-258)atC>atG	p.I86M	FGF22_ENST00000586042.2_Missense_Mutation_p.I86M|FGF22_ENST00000166133.3_Missense_Mutation_p.I45M	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	86					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity			endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTGGTCATCAAAGCAGTGT	0.711000													4	33					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215982	20215982	+	Silent	SNP	C	C	A	rs144302758		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr14:20215982C>A	ENST00000331723.1	+	1	396	c.396C>A	c.(394-396)cgC>cgA	p.R132R		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCTTTGCGCTACCTTACAG	0.493000													24	40					6.90743e-12	7.95587e-12	1	1	0
SIGIRR	59307	broad.mit.edu	37	11	407553	407553	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:407553T>A	ENST00000431843.2	-	6	803	c.497A>T	c.(496-498)gAc>gTc	p.D166V	SIGIRR_ENST00000332725.3_Missense_Mutation_p.D166V|SIGIRR_ENST00000397632.3_Missense_Mutation_p.D166V|SIGIRR_ENST00000531205.1_Missense_Mutation_p.D166V|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Missense_Mutation_p.D166V	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	166	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGTAGGCGTCGTAGAGCTT	0.652000													4	19					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114927	53114927	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:53114927G>C	ENST00000375442.4	+	6	1485	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	451					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATGACATCAAGATCTCTGACT	0.458000													3	139					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325356	150325356	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:150325356G>A	ENST00000493969.1	-	3	283	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	GIMAP6_ENST00000328902.5_Silent_p.D110D	NM_001244071.1	NP_001231000.1	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	278							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGATAGCGTCTGCCACCT	0.622000													4	96					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190838	209190838	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:209190838G>A	ENST00000264380.4	+	20	3461	c.3303G>A	c.(3301-3303)agG>agA	p.R1101R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1101					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGGAGAACAGGAGGAAGAAAC	0.443000													14	57					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57220268	57220268	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:57220268C>T	ENST00000205214.6	-	8	1500	c.1320G>A	c.(1318-1320)ttG>ttA	p.L440L	AASDH_ENST00000451613.1_Silent_p.L440L|AASDH_ENST00000513376.1_Silent_p.L340L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Silent_p.L440L|AASDH_ENST00000602986.1_Silent_p.L287L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	440					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTTTTCGTCCCAAAAAAAAAA	0.363000													14	38					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112263	76112263	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:76112263C>T	ENST00000324432.5	+	5	1217	c.707C>T	c.(706-708)tCt>tTt	p.S236F	DTX2_ENST00000446600.1_Missense_Mutation_p.S145F|DTX2_ENST00000446820.2_Missense_Mutation_p.S236F|DTX2_ENST00000307569.8_Missense_Mutation_p.S236F|DTX2_ENST00000413936.2_Missense_Mutation_p.S236F|DTX2_ENST00000430490.2_Missense_Mutation_p.S236F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	236					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGGACCGCTTCTGTGTTTGGG	0.662000													59	610					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81284004	81284004	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:81284004G>C	ENST00000358105.3	+	2	257	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	C4orf22_ENST00000508675.1_Missense_Mutation_p.E70Q|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	70										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGCGGCTATAGAGATTGCAAG	0.453000													18	96					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506262	1506262	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:1506262C>T	ENST00000330475.4	-	12	1611	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Silent_p.*132*|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.E400K	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	390	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCGCACCTCATAGCGGGTC	0.667000													7	66					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57144676	57144676	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:57144676G>A	ENST00000537605.1	+	0	254				CPNE2_ENST00000290776.8_Missense_Mutation_p.G8S|CPNE2_ENST00000565874.1_Missense_Mutation_p.G8S|CPNE2_ENST00000535318.2_Missense_Mutation_p.G8S			Q96FN4	CPNE2_HUMAN	copine II											central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ACCCAGTGGGGGTGCCCCAGC	0.642000													13	19					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100856412	100856412	+	Silent	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:100856412C>A	ENST00000223127.3	-	7	1151	c.753G>T	c.(751-753)gtG>gtT	p.V251V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	251					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCATGGACCACAATGGGGA	0.592000													19	82					5.35356e-11	6.07574e-11	1	1	0
COLQ	8292	broad.mit.edu	37	3	15520852	15520852	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:15520852C>T	ENST00000383785.2	-	4	484	c.359G>A	c.(358-360)gGa>gAa	p.G120E	COLQ_ENST00000435459.2_Missense_Mutation_p.G110E|COLQ_ENST00000383788.5_Missense_Mutation_p.G120E|COLQ_ENST00000603808.1_Missense_Mutation_p.G120E|COLQ_ENST00000383781.4_Missense_Mutation_p.G110E|COLQ_ENST00000383787.2_Missense_Mutation_p.G120E|COLQ_ENST00000383786.5_Missense_Mutation_p.G86E			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	120	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TACCTTTTCTCCCTTTGGTCC	0.458000													13	151					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985537	61985537	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:61985537C>A	ENST00000409186.1	-	5	4800	c.2695G>T	c.(2695-2697)Ggt>Tgt	p.G899C	PCDH20_ENST00000409204.4_Missense_Mutation_p.G899C			Q8N6Y1	PCD20_HUMAN	protocadherin 20	872					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGATGGAACCCAAGCTTATT	0.433000													11	29					0.000978159	0.0010041	1	1	0
ZNF8	7554	broad.mit.edu	37	19	58806613	58806613	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:58806613C>G	ENST00000196548.5	+	4	1570	c.1439C>G	c.(1438-1440)tCt>tGt	p.S480C	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ATTCAGAGCTCTCACCTCATC	0.557000													46	302					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49684627	49684627	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:49684627C>T	ENST00000252826.5	+	10	1298	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.S391L|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	391					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGGAGGCCTCAGCCTACCTG	0.567000													26	143					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542000													5	122					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101598836	101598836	+	Silent	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:101598836C>G	ENST00000335681.5	+	16	1911	c.1626C>G	c.(1624-1626)gtC>gtG	p.V542V	NPAS2_ENST00000542504.1_Silent_p.V607V	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	542					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCCAACGTCCAGGTGATCC	0.637000													6	48					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034846	70034846	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:70034846C>T	ENST00000370598.1	+	21	3718	c.2897C>T	c.(2896-2898)tCa>tTa	p.S966L	BAI3_ENST00000238918.8_Missense_Mutation_p.S172L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	966					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGTGGCAATCATATATGGCT	0.413000													34	80					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135883796	135883796	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:135883796C>T	ENST00000264158.8	+	10	919	c.876C>T	c.(874-876)atC>atT	p.I292I	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.I292I|RAB3GAP1_ENST00000539493.1_Silent_p.I248I	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	292						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGAAGGGATCATTGTGGATA	0.308000													16	64					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850872	167850872	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:167850872C>T	ENST00000265293.4	+	11	2111	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	WWC1_ENST00000521089.1_Missense_Mutation_p.R537C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	537					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCTATCCCCACGTTCCTCTCT	0.627000													19	147					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193617	105193617	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:105193617G>A	ENST00000428173.2	+	27	4710	c.4407G>A	c.(4405-4407)ttG>ttA	p.L1469L	NRK_ENST00000243300.9_Silent_p.L1468L|NRK_ENST00000540278.1_Silent_p.L49L			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1468	CNH.						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						CTGATTGCTTGGGAATTGGCA	0.368000										HNSCC(51;0.14)			20	74					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175066	207175066	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:207175066G>A	ENST00000374423.3	+	5	6200	c.5814G>A	c.(5812-5814)caG>caA	p.Q1938Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1938							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCAATGCCAGACAGCGAAAA	0.438000													7	82					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178419046	178419046	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:178419046G>A	ENST00000231188.5	-	2	721	c.543C>T	c.(541-543)ctC>ctT	p.L181L	GRM6_ENST00000517717.1_Silent_p.L181L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	181					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGAGTCGCTGAGCTCCGGGG	0.612000													10	61					0	0	1	0	0
RHOG	391	broad.mit.edu	37	11	3848888	3848888	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:3848888G>C	ENST00000351018.4	-	2	638	c.481C>G	c.(481-483)Caa>Gaa	p.Q161E	RHOG_ENST00000533217.1_Missense_Mutation_p.Q161E|RHOG_ENST00000396978.1_Missense_Mutation_p.Q161E|RHOG_ENST00000396979.1_Missense_Mutation_p.Q161E	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	161					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCATCCTGTTGCAGGGCTGAG	0.652000													9	50					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983304	140983304	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:140983304G>A	ENST00000298296.1	+	6	1082	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	361	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCCGCCGAGGGCTGACC	0.602000													4	18					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035449	110035449	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:110035449C>G	ENST00000453089.2	+	5	2427	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.H547D|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.H548D			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	547							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATCTGGAGTTCATTTCCCACC	0.443000													16	82					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131830610	131830610	+	Splice_Site	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:131830610C>A	ENST00000358369.4	+	13	1629	c.1404_splice	c.e13+1	p.T468_splice	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	468						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TTCAAGGAGACGGTGGGTCAC	0.642000													15	39					1.5739e-10	1.78099e-10	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27439707	27439707	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:27439707C>G	ENST00000295736.5	-	17	2608	c.2538G>C	c.(2536-2538)aaG>aaC	p.K846N	SLC4A7_ENST00000435667.2_Missense_Mutation_p.K731N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.K727N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.K722N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.K842N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.K842N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.K855N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.K838N|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000388777.4_Missense_Mutation_p.K396N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.K727N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	846						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AACGCTTGGTCTTAAATTGCT	0.328000													14	56					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1020113	1020113	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:1020113G>A	ENST00000421673.2	-	29	3835	c.3785C>T	c.(3784-3786)tCc>tTc	p.S1262F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1262	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGGCTTGGAGGATGTGAG	0.647000													6	38					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72289041	72289041	+	Missense_Mutation	SNP	C	C	T	rs143276983		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:72289041C>T	ENST00000263563.6	+	3	510	c.242C>T	c.(241-243)aCg>aTg	p.T81M		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GCTCATTACACGTTGGGCCGG	0.607000													16	22					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631703	101631703	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:101631703G>A	ENST00000310954.6	-	1	550	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	88					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCTCCAGCCGTAAGACCCCT	0.572000													5	73					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196454	207196454	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:207196454C>G	ENST00000359470.5	-	4	904	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	219						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCTGGCCCCTCGGGCAGGCTG	0.627000													54	141					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142519584	142519584	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr6:142519584G>A	ENST00000367630.4	+	6	587	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	VTA1_ENST00000452973.2_Missense_Mutation_p.E119K|VTA1_ENST00000367621.1_Missense_Mutation_p.E119K|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	177	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGATATTGAAGAAAATGAAGA	0.383000													8	48					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109000667	109000667	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:109000667C>T	ENST00000379951.2	-	6	1930	c.742G>A	c.(742-744)Gac>Aac	p.D248N	LEF1_ENST00000438313.2_Missense_Mutation_p.D248N|LEF1_ENST00000265165.1_Missense_Mutation_p.D276N|LEF1_ENST00000510624.1_Missense_Mutation_p.D180N	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	276	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGTCACTGTCAGTGTGGGGA	0.502000													31	89					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459750	69459750	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:69459750G>T	ENST00000374521.3	+	6	839	c.798G>T	c.(796-798)ggG>ggT	p.G266G		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	266					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GCTCCACTGGGCTCCTGCCAT	0.542000													21	48					1.7367e-05	1.85152e-05	1	1	0
RCAN1	1827	broad.mit.edu	37	21	35893820	35893820	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:35893820T>A	ENST00000481448.1	-	4	1019	c.533A>T	c.(532-534)tAt>tTt	p.Y178F	RCAN1_ENST00000399272.1_Missense_Mutation_p.Y107F|RCAN1_ENST00000381132.2_Missense_Mutation_p.Y133F|RCAN1_ENST00000381135.3_Missense_Mutation_p.Y178F|RCAN1_ENST00000443408.2_Missense_Mutation_p.Y53F|RCAN1_ENST00000482533.1_Missense_Mutation_p.Y53F|RCAN1_ENST00000313806.4_Missense_Mutation_p.Y188F|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000487990.1_Missense_Mutation_p.Y53F			P53805	RCAN1_HUMAN	regulator of calcineurin 1	188					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGAGATGGCATATAAGAGATC	0.592000													16	45					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849414	73849414	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:73849414C>G	ENST00000523207.1	+	3	2412	c.1824C>G	c.(1822-1824)agC>agG	p.S608R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	608					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTTCACCAGCTGTGCCACCG	0.592000													37	141					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050048	36050048	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:36050048C>T	ENST00000262623.3	-	8	1130	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	368					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTCTTGACCACGCAGTTCTTA	0.617000													66	235					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46266827	46266827	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:46266827C>G	ENST00000336915.6	-	5	385	c.316G>C	c.(316-318)Gat>Cat	p.D106H	SKAP1_ENST00000584924.1_Missense_Mutation_p.D106H|RP11-456D7.1_ENST00000582246.1_RNA	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	106					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATTACGTTATCAAGTTCTTGA	0.388000													9	72					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581842	135581842	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:135581842A>T	ENST00000535601.1	+	3	694	c.272A>T	c.(271-273)gAt>gTt	p.D91V	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D91V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	91					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AATGTTGAAGATGTCCATGCT	0.448000													62	138					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43963652	43963652	+	Missense_Mutation	SNP	G	G	A	rs138206056	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:43963652G>A	ENST00000352133.2	+	8	1652	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	SLC37A1_ENST00000398341.3_Missense_Mutation_p.V224I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	224					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCTGTCCTTCGTCGTGCCTGG	0.577000													11	193					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70979953	70979953	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:70979953C>T	ENST00000322954.6	-	7	713	c.528G>A	c.(526-528)caG>caA	p.Q176Q	UACA_ENST00000539319.1_Intron|UACA_ENST00000560441.1_Silent_p.Q163Q|UACA_ENST00000379983.2_Silent_p.Q163Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	176						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCCTACTCATCTGAGTAGCCA	0.413000													5	104					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154713	19154713	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr18:19154713G>C	ENST00000269214.5	-	4	1029	c.92C>G	c.(91-93)tCt>tGt	p.S31C		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	31					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTGAGAATCCTGAAT	0.333000													4	97					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100956	41100956	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:41100956G>T	ENST00000373198.3	-	8	1635	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	PTPRT_ENST00000373190.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373187.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373201.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373193.3_Missense_Mutation_p.P467H|PTPRT_ENST00000373184.1_Missense_Mutation_p.P467H|PTPRT_ENST00000356100.2_Missense_Mutation_p.P467H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	467	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGGCCCTCGGGGTTAGACAG	0.592000													24	101					6.07407e-21	7.41535e-21	1	1	0
SLC44A2	57153	broad.mit.edu	37	19	10753982	10753982	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:10753982C>T	ENST00000335757.5	+	22	2418	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.S679L			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	681					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	AATGACGGCTCGGCCGAGAGG	0.612000													7	8					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325408	57325408	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:57325408G>T	ENST00000326441.9	-	10	4765	c.4402C>A	c.(4402-4404)Cca>Aca	p.P1468T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P1342T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1468T|PEG3_ENST00000598410.1_Missense_Mutation_p.P1344T|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1468	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCCCTCTGGCTCTTCAGCT	0.532000													46	121					3.84483e-29	4.86258e-29	1	1	0
NEB	4703	broad.mit.edu	37	2	152490372	152490372	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:152490372C>T	ENST00000427231.2	-	65	9412	c.9210G>A	c.(9208-9210)caG>caA	p.Q3070Q	NEB_ENST00000603639.1_Silent_p.Q3070Q|NEB_ENST00000409198.1_Intron|NEB_ENST00000172853.10_Intron|NEB_ENST00000397345.3_Silent_p.Q3070Q|NEB_ENST00000604864.1_Silent_p.Q3070Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3070					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCTGTCACTCTGGATCTTGG	0.512000													69	400					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53223973	53223973	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:53223973C>G	ENST00000394729.2	+	17	2156	c.1828C>G	c.(1828-1830)Ctg>Gtg	p.L610V	PRKCD_ENST00000330452.3_Missense_Mutation_p.L610V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	610	AGC-kinase C-terminal.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AAACTGGACTCTGCTGGAAAA	0.552000													6	449					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71153345	71153345	+	Missense_Mutation	SNP	C	C	A	rs143587828		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:71153345C>A	ENST00000355527.3	-	5	652	c.376G>T	c.(376-378)Gta>Tta	p.V126L	DHCR7_ENST00000407721.2_Missense_Mutation_p.V126L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	126					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ATGCCTCCTACGTAGCCGGGT	0.612000									Smith-Lemli-Opitz syndrome				10	36					1.5842e-08	1.74668e-08	1	1	0
FAM76A	199870	broad.mit.edu	37	1	28081709	28081709	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:28081709C>T	ENST00000373954.6	+	7	705	c.603C>T	c.(601-603)ttC>ttT	p.F201F	FAM76A_ENST00000530324.1_Silent_p.F201F|FAM76A_ENST00000373949.1_Silent_p.F172F|FAM76A_ENST00000234549.7_Silent_p.F206F|FAM76A_ENST00000419687.2_Silent_p.F121F|FAM76A_ENST00000010299.6_Silent_p.F235F	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	201										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAGCTTCTCCCCAGACC	0.438000													13	110					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70604051	70604051	+	Splice_Site	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:70604051A>G	ENST00000302516.5	+	24	3618	c.3408_splice	c.e24+1	p.E1136_splice		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1136					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACGTCCCATGAGGTGAGAGCG	0.473000													3	114					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184936024	184936024	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:184936024T>G	ENST00000231887.3	-	5	543	c.468A>C	c.(466-468)agA>agC	p.R156S	EHHADH_ENST00000456310.1_Missense_Mutation_p.R60S|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	156	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTAAAATACGTCTTCCTGAAA	0.383000													38	104					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43839533	43839533	+	Splice_Site	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:43839533C>T	ENST00000261488.6	-	14	2189		c.e14+1		ENOX1_ENST00000412891.1_Splice_Site	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1						electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGGTACCTACATTTGAATCC	0.383000													36	226					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628640	205628640	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:205628640C>A	ENST00000367145.3	-	5	1679	c.1384G>T	c.(1384-1386)Ggg>Tgg	p.G462W	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	462					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCAGAGGCCCCGCAGAGCGCG	0.682000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	23					2.27111e-07	2.47583e-07	1	1	0
SERPINA12	145264	broad.mit.edu	37	14	94953816	94953816	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr14:94953816C>G	ENST00000341228.2	-	6	1864	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E357Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	357					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		ATCTTCAGCTCAGCCTTGTGC	0.597000													11	54					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65393570	65393570	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:65393570C>G	ENST00000519389.1	+	4	893	c.714C>G	c.(712-714)atC>atG	p.I238M	HEPH_ENST00000374727.3_Missense_Mutation_p.I187M|HEPH_ENST00000343002.2_Missense_Mutation_p.I184M|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Missense_Mutation_p.I187M|HEPH_ENST00000419594.1_Missense_Mutation_p.I187M			Q9BQS7	HEPH_HUMAN	hephaestin	184	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCACCTGGATCTACCATTCTC	0.532000													5	32					0	0	1	0	0
PAGE2	203569	broad.mit.edu	37	X	55117842	55117842	+	Silent	SNP	A	A	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:55117842A>C	ENST00000374968.4	+	4	375	c.271A>C	c.(271-273)Agg>Cgg	p.R91R	PAGE2_ENST00000374965.1_Silent_p.R74R	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)											endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						TCCTGATGTCAGGGAGGGTAT	0.398000													32	176					0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412249	23412249	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:23412249G>C	ENST00000379361.4	+	3	3474	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	872					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGAGTGTGTAGAAATGGTAGA	0.398000													35	91					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221054701	221054701	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:221054701A>G	ENST00000366903.6	+	2	2259	c.758A>G	c.(757-759)cAa>cGa	p.Q253R	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	253					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CATCAGTTCCAAGACACGTTT	0.522000													20	41					0	0	1	0	0
COA4	51287	broad.mit.edu	37	11	73584229	73584229	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:73584229C>G	ENST00000541455.1	-	2	615	c.222G>C	c.(220-222)atG>atC	p.M74I	COA4_ENST00000545127.1_Missense_Mutation_p.M65I|COA4_ENST00000537289.1_Missense_Mutation_p.M65I|COA4_ENST00000355693.4_Missense_Mutation_p.M65I					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		GCTGTTCACTCATGCAATCCT	0.617000													17	90					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43013378	43013378	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:43013378C>T	ENST00000161559.6	-	9	1598	c.1464G>A	c.(1462-1464)atG>atA	p.M488I	CEACAM1_ENST00000308072.4_3'UTR|CEACAM1_ENST00000599389.1_3'UTR|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000351134.3_Missense_Mutation_p.M214I|CEACAM1_ENST00000352591.5_Missense_Mutation_p.M392I|CEACAM1_ENST00000403461.1_3'UTR|CEACAM1_ENST00000403444.3_3'UTR|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.M423I|LIPE-AS1_ENST00000594688.1_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	488					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TAACTTCATTCATCTGAAAAG	0.443000													5	60					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423252	65423252	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:65423252G>T	ENST00000519389.1	+	13	2465	c.2286G>T	c.(2284-2286)ggG>ggT	p.G762G	HEPH_ENST00000374727.3_Silent_p.G711G|HEPH_ENST00000343002.2_Silent_p.G708G|HEPH_ENST00000336279.5_Silent_p.G441G|HEPH_ENST00000441993.2_Silent_p.G711G|HEPH_ENST00000419594.1_Silent_p.G519G			Q9BQS7	HEPH_HUMAN	hephaestin	708	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAGAAGCAGGGATGAGGGCAA	0.512000													18	55					0.000229342	0.000239879	1	1	0
FAM83F	113828	broad.mit.edu	37	22	40415918	40415918	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr22:40415918G>T	ENST00000333407.5	+	3	779	c.685G>T	c.(685-687)Gtc>Ttc	p.V229F	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	229										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGTGACAGGCGTCGGCTTCTA	0.587000													31	72					9.04072e-19	1.08321e-18	1	1	0
CARD8	22900	broad.mit.edu	37	19	48737743	48737743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:48737743G>T	ENST00000391898.3	-	3	309	c.267C>A	c.(265-267)ttC>ttA	p.F89L	CARD8_ENST00000520015.1_Missense_Mutation_p.F89L|CARD8_ENST00000521613.1_Missense_Mutation_p.F39L|CARD8_ENST00000520753.1_Missense_Mutation_p.F89L|CARD8_ENST00000519940.1_Missense_Mutation_p.F89L|CARD8_ENST00000359009.4_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.F39L|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.F39L	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CATCTTCTTGGAAAAAATGTG	0.433000													9	68					1.58986e-06	1.7091e-06	1	1	0
PCNT	5116	broad.mit.edu	37	21	47836585	47836585	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:47836585G>A	ENST00000359568.5	+	30	6860	c.6753G>A	c.(6751-6753)ctG>ctA	p.L2251L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2251					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGCCCTGAGCCTGTGCA	0.682000													10	65					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522653	20522653	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:20522653G>T	ENST00000359062.3	+	1	475	c.435G>T	c.(433-435)tgG>tgT	p.W145C	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	145					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCTTCTTCTGGATGGGCTTGT	0.731000													10	30					0.000673444	0.000693146	1	1	0
FBXO10	26267	broad.mit.edu	37	9	37537899	37537899	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:37537899C>G	ENST00000432825.2	-	3	675	c.627G>C	c.(625-627)gaG>gaC	p.E209D	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	209						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGTGCCCGTTCTCAAAGTTGC	0.493000													22	91					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963152	7963152	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:7963152C>G	ENST00000246024.2	-	8	1011	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	266	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttctttctcttcttcatca	0.463000													17	24					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064354	100064354	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:100064354G>A	ENST00000524871.1	+	15	2133	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.D541N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D615N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D615N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D615N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	615	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCCTATTGATTTCGAGGA	0.368000													37	77					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33790492	33790492	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:33790492C>G	ENST00000530401.1	-	3	268	c.248G>C	c.(247-249)aGa>aCa	p.R83T	FBXO3_ENST00000448981.2_Missense_Mutation_p.R88T|FBXO3_ENST00000534136.1_Missense_Mutation_p.R88T|FBXO3_ENST00000265651.3_Missense_Mutation_p.R88T|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000533103.1_5'UTR			Q9UK99	FBX3_HUMAN	F-box protein 3	88					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GTCAATGTATCTTCCTACATC	0.368000													5	262					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111819471	111819471	+	Splice_Site	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:111819471C>A	ENST00000374586.3	-	12	1885	c.1854_splice	c.e12+1	p.S618_splice		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	618						integral to membrane											tatttcttaccgaaagaaatg	0.373000													10	34					0.00621372	0.00634488	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105001615	105001615	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:105001615G>T	ENST00000507740.1	+	14	2622	c.2386G>T	c.(2386-2388)Gtc>Ttc	p.V796F	RIMS2_ENST00000406091.3_Missense_Mutation_p.V1004F|RIMS2_ENST00000436393.2_Missense_Mutation_p.V782F|RIMS2_ENST00000262231.10_Missense_Mutation_p.V843F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1066					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGACATCGTGTCATGGATGA	0.393000										HNSCC(12;0.0054)			31	106					6.53348e-20	7.90142e-20	1	1	0
KAT8	84148	broad.mit.edu	37	16	31138594	31138594	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:31138594T>A	ENST00000543774.2	+	6	936	c.601T>A	c.(601-603)Tat>Aat	p.Y201N	KAT8_ENST00000219797.4_Missense_Mutation_p.Y201N|KAT8_ENST00000448516.2_Missense_Mutation_p.Y201N			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	201					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CCCCGAAGACTATGGGAAACA	0.537000													42	111					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281203	15281203	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:15281203C>T	ENST00000263388.2	-	27	5128	c.5053G>A	c.(5053-5055)Gac>Aac	p.D1685N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1685					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAGGCCACGTCCTTGTGCAGT	0.652000													26	60					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303037	135303037	+	Silent	SNP	T	T	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:135303037T>C	ENST00000316077.9	-	16	2593	c.2373A>G	c.(2371-2373)ctA>ctG	p.L791L	MAP7D3_ENST00000370663.5_Silent_p.L773L|MAP7D3_ENST00000370661.1_Silent_p.L756L	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	791						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TACCATCTTCTAGAAATACCA	0.373000													129	267					0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48318158	48318158	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:48318158G>T	ENST00000376876.3	-	14	2016	c.1173C>A	c.(1171-1173)gtC>gtA	p.V391V	SLC38A5_ENST00000317669.5_Silent_p.V391V|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Silent_p.V340V			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	391					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCACACAGATGACAAGGACAT	0.547000													9	37					7.03913e-09	7.78326e-09	1	1	0
GALNT9	50614	broad.mit.edu	37	12	132685678	132685678	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:132685678C>T	ENST00000328957.8	-	8	1391	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	GALNT9_ENST00000397325.2_Silent_p.T98T|GALNT9_ENST00000535228.1_Silent_p.T215T|GALNT9_ENST00000541995.1_Silent_p.T98T	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	464	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCTCTCCGTACGTGAGGGTGT	0.607000													3	38					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208252706	208252706	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:208252706C>T	ENST00000367033.3	-	12	3242	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	829					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACCTGCGCTCGCCGCTGCAC	0.617000													4	22					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123935779	123935779	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr9:123935779C>G	ENST00000373855.1	+	41	6936	c.6676C>G	c.(6676-6678)Cac>Gac	p.H2226D	CNTRL_ENST00000373850.1_Missense_Mutation_p.H1674D|CNTRL_ENST00000238341.5_Missense_Mutation_p.H2226D|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2226	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTCCCAAGTTCACATAATGGT	0.443000													4	74					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128722950	128722950	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:128722950G>A	ENST00000296464.3	+	6	951	c.540G>A	c.(538-540)gcG>gcA	p.A180A	HSPA4L_ENST00000439123.2_Silent_p.A211A|HSPA4L_ENST00000505726.1_Silent_p.A154A|HSPA4L_ENST00000508776.1_Silent_p.A180A	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	180					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTGCACTGGCGTATGGAATTT	0.338000													3	62					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242036735	242036735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:242036735G>A	ENST00000391980.2	-	3	686	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MTERFD2_ENST00000406593.1_Nonsense_Mutation_p.Q22*|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.Q210*|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	210										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTGACTTGCTGTACCGTGAAA	0.478000													4	52					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705320	41705320	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr13:41705320C>T	ENST00000379485.1	-	1	1562	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R377Q	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATAGGGTCTCGCCCCCCCAA	0.478000													11	121					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950154	200950154	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:200950154C>T	ENST00000332129.2	-	28	4190	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	KIF21B_ENST00000422435.2_Missense_Mutation_p.E1305K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E1305K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E1292K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1305					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGTGGCCTTCGGCCATGGAG	0.607000													30	64					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489407	489407	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:489407A>T	ENST00000308020.5	+	9	1038	c.862A>T	c.(862-864)Atg>Ttg	p.M288L		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	288						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGGGGCAAGATGAAGAGGAT	0.657000													14	33					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46689898	46689898	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:46689898C>G	ENST00000331343.7	-	7	894	c.868G>C	c.(868-870)Gga>Cga	p.G290R	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Missense_Mutation_p.G290R	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	290					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		AGGTGGACTCCCAGGTAGGGG	0.592000													21	56					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450849	21450849	+	Silent	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:21450849C>G	ENST00000425654.2	+	3	828	c.348C>G	c.(346-348)acC>acG	p.T116T	CNKSR2_ENST00000279451.4_Silent_p.T116T|CNKSR2_ENST00000379510.3_Silent_p.T116T|CNKSR2_ENST00000543067.1_Silent_p.T116T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	116	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATGGGAGGACCAGCCGAAAAT	0.448000													28	149					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388215	233388215	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:233388215G>T	ENST00000258229.8	-	7	2247	c.2013C>A	c.(2011-2013)atC>atA	p.I671I	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	671						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTACCCTGTAGATTATCTGTC	0.358000													30	81					3.62531e-18	4.3169e-18	1	1	0
NDUFAF5	79133	broad.mit.edu	37	20	13765723	13765723	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:13765723G>A	ENST00000378106.5	+	1	128	c.9G>A	c.(7-9)cgG>cgA	p.R3R	NDUFAF5_ENST00000463598.1_Silent_p.R3R	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	3					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										AGATGCTGCGGCCGGCAGGGC	0.637000													5	14					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	246078861	246078861	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:246078861C>T	ENST00000490107.1	-	8	823	c.607G>A	c.(607-609)Gac>Aac	p.D203N	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.D203N|SMYD3_ENST00000388985.4_Missense_Mutation_p.D262N	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	262	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CGGAAACAGTCACATTCAAAG	0.507000													43	102					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584591	57584591	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:57584591C>T	ENST00000243077.3	+	43	7501	c.7035C>T	c.(7033-7035)ctC>ctT	p.L2345L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2345					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCCAGCCTCATGTTCTGGA	0.597000													8	54					0	0	1	0	0
H1FX	8971	broad.mit.edu	37	3	129034285	129034285	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:129034285G>C	ENST00000333762.4	-	1	835	c.461C>G	c.(460-462)tCc>tGc	p.S154C	H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	154					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						cgcgcgccgggagccggccgc	0.771000													2	9					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396346	122396346	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:122396346G>T	ENST00000288912.4	+	12	2753	c.1899G>T	c.(1897-1899)tgG>tgT	p.W633C	WDR66_ENST00000397454.2_Missense_Mutation_p.W633C	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	633							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCAAAGTGTGGAATTATGAAA	0.453000													37	273					1.32136e-16	1.56381e-16	1	1	0
COL7A1	1294	broad.mit.edu	37	3	48626077	48626077	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:48626077G>T	ENST00000328333.8	-	19	2692	c.2585C>A	c.(2584-2586)aCg>aAg	p.T862K	COL7A1_ENST00000454817.1_Missense_Mutation_p.T862K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCCTACGCGTAGTGACAAC	0.587000													3	129					1	1	1	1	0
CCDC37	348807	broad.mit.edu	37	3	126114889	126114889	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:126114889G>A	ENST00000393425.1	+	2	145	c.46G>A	c.(46-48)Gac>Aac	p.D16N	CCDC37_ENST00000505024.1_Missense_Mutation_p.D16N|CCDC37_ENST00000352312.1_Missense_Mutation_p.D16N|CCDC37_ENST00000510833.1_Missense_Mutation_p.D16N			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	16										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CATGACCAATGACAGTAAGTA	0.532000													16	65					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49338025	49338025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:49338025C>A	ENST00000351842.4	-	10	1254	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	USP4_ENST00000265560.4_Nonsense_Mutation_p.E463*	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	463					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTAGCACATTCTGGGCAAACC	0.468000													17	54					2.27731e-05	2.41457e-05	1	1	0
KIF1A	547	broad.mit.edu	37	2	241700234	241700234	+	Silent	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:241700234C>G	ENST00000498729.2	-	25	2538	c.2292G>C	c.(2290-2292)acG>acC	p.T764T	KIF1A_ENST00000320389.7_Silent_p.T755T	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	755					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGTGTGTCCGTCAGGAGGA	0.627000													8	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:7578419C>T	ENST00000420246.2	-	5	643	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.E171K|TP53_ENST00000413465.2_Missense_Mutation_p.E171K|TP53_ENST00000445888.2_Missense_Mutation_p.E171K|TP53_ENST00000359597.4_Missense_Mutation_p.E171K|TP53_ENST00000455263.2_Missense_Mutation_p.E171K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(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)		CTCACAACCTCCGTCATGTGC	0.662000		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)			23	49					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388301	72388301	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:72388301G>T	ENST00000333850.3	+	8	1165	c.1024G>T	c.(1024-1026)Gcg>Tcg	p.A342S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	342					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATAGGTCTGGCGTCTCTGGG	0.413000													33	76					1.30998e-17	1.5551e-17	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803231	185803231	+	Silent	SNP	C	C	T	rs142448316		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:185803231C>T	ENST00000302277.6	+	4	3702	c.3108C>T	c.(3106-3108)atC>atT	p.I1036I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1036						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATTATTGATCCCACTAGAAA	0.413000													22	72					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962539	50962539	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:50962539G>A	ENST00000357701.5	+	23	2818	c.2767G>A	c.(2767-2769)Gcc>Acc	p.A923T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	923	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGGACACCGCCACCATCCG	0.682000													6	66					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80338785	80338785	+	Silent	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:80338785G>A	ENST00000265080.4	+	2	445	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	126	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGTGGATGGAGGCCATTCACC	0.478000													6	30					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114156	101114156	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr15:101114156G>A	ENST00000314742.8	-	5	1144	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	LINS_ENST00000560133.1_Missense_Mutation_p.L189F|LINS_ENST00000561308.1_Missense_Mutation_p.L308F|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	308										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						ACTTTACAGAGAAGGCACTTT	0.438000													15	71					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	31					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	27					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29423429	29423429	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr12:29423429C>T	ENST00000182377.4	+	2	315	c.47C>T	c.(46-48)aCg>aTg	p.T16M	FAR2_ENST00000536681.2_Missense_Mutation_p.T16M|FAR2_ENST00000547116.1_Intron	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	16					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.T16M(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ATTCTCATCACGGGGGCCACA	0.502000													18	38					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45574442	45574442	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr22:45574442C>G	ENST00000347635.3	+	5	1130	c.664C>G	c.(664-666)Cct>Gct	p.P222A	NUP50_ENST00000407019.2_Missense_Mutation_p.P194A|NUP50_ENST00000396096.2_Missense_Mutation_p.P194A|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	222	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AACACAGTCTCCTTCCCTTTT	0.408000													15	56					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249287	88249287	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:88249287G>C	ENST00000518476.1	+	6	769	c.718G>C	c.(718-720)Gaa>Caa	p.E240Q	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	240										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTGGAGTGAAGAATTCAAAAA	0.398000													4	58					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													3	32					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48743289	48743289	+	Missense_Mutation	SNP	C	C	G	rs148855050	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:48743289C>G	ENST00000314191.2	-	62	8327	c.8271G>C	c.(8269-8271)aaG>aaC	p.K2757N	PRKDC_ENST00000338368.3_Missense_Mutation_p.K2757N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2758	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTAACTCACTCTTGATTTCCT	0.478000								Non-homologous end-joining					11	67					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	396417	396417	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:396417C>T	ENST00000256509.2	+	11	1770	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	CHL1_ENST00000397491.2_Silent_p.P360P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	360	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACCTCAACCCACAATCAAGT	0.483000													11	56					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708425	12708425	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:12708425G>A	ENST00000380682.1	+	8	1299	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	265	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTTGCTTCATGAACAGGAGAC	0.507000													33	144					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169496852	169496852	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr3:169496852C>T	ENST00000349841.5	+	3	1226	c.563C>T	c.(562-564)tCc>tTc	p.S188F	MYNN_ENST00000544106.1_Missense_Mutation_p.S188F|MYNN_ENST00000392733.1_Missense_Mutation_p.S188F|MYNN_ENST00000356716.4_Missense_Mutation_p.S188F|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GCTTTCAACTCCCCGAAAACA	0.393000													11	30					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465057	51465057	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr19:51465057C>G	ENST00000376851.3	-	5	964	c.525G>C	c.(523-525)caG>caC	p.Q175H	KLK6_ENST00000391808.1_Missense_Mutation_p.Q68H|KLK6_ENST00000456750.2_Missense_Mutation_p.Q68H|KLK6_ENST00000310157.2_Missense_Mutation_p.Q175H|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.Q175H|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	175	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TCTGGGTGATCTGGCCAGGGT	0.572000													34	170					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777789	237777789	+	Silent	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:237777789C>G	ENST00000366574.2	+	37	5678	c.5361C>G	c.(5359-5361)ctC>ctG	p.L1787L	RYR2_ENST00000542537.1_Silent_p.L1771L|RYR2_ENST00000360064.6_Silent_p.L1785L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1787	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGACATCCTCAAGTCCAAAA	0.498000													18	169					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425140	27425140	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:27425140C>G	ENST00000527372.1	-	25	4153	c.3973G>C	c.(3973-3975)Gag>Cag	p.E1325Q	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1325Q|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1325Q|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1325Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1325					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCTTCATCTCCTTCTCAGCC	0.612000													37	329					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302743	123302743	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr7:123302743G>A	ENST00000458573.2	+	2	1260	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	368						cytoskeleton	actin binding|tropomyosin binding										CAGCAGGAGGGATACGATGGA	0.473000													25	144					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													3	30					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873997	76873997	+	Silent	SNP	C	C	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:76873997C>T	ENST00000409709.3	+	14	1925	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	MYO7A_ENST00000409893.1_Silent_p.I551I|MYO7A_ENST00000409619.2_Silent_p.I540I|MYO7A_ENST00000458637.2_Silent_p.I551I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	551	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTTTGGCATCAACCATTTTG	0.572000													65	191					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153043455	153043455	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chrX:153043455G>A	ENST00000489426.1	+	0	529				PLXNB3_ENST00000538966.1_Missense_Mutation_p.D1795N|PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1772N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1425N|PLXNB3_ENST00000485980.1_3'UTR			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCATCTTTGATGTACGGGT	0.607000													16	49					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784772	143784772	+	Missense_Mutation	SNP	G	G	A	rs144411665		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:143784772G>A	ENST00000292430.6	+	3	898	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	LY6K_ENST00000561179.1_Missense_Mutation_p.G219S|LY6K_ENST00000522591.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	161						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATTGCAGCCGGCCTCAGCCT	0.562000													17	49					0	0	1	0	0
KNCN	148930	broad.mit.edu	37	1	47014887	47014887	+	Silent	SNP	G	G	T			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr1:47014887G>T	ENST00000481882.2	-	3	584	c.273C>A	c.(271-273)tcC>tcA	p.S91S	KNCN_ENST00000524908.1_5'UTR|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Silent_p.S68S			A6PVL3	KNCN_HUMAN	kinocilin	91						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					CATTGGTGCTGGATCTTCCTT	0.507000													13	33					0.0332995	0.0338239	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50463947	50463947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:50463947delC	ENST00000404971.1	-	19	4985	c.3646delG	c.(3646-3648)acfs	p.D1216fs	NRXN1_ENST00000405472.3_Frame_Shift_Del_p.D1168fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.D1176fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.D1168fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.D1176fs|NRXN1_ENST00000406859.3_Frame_Shift_Del_p.D1176fs|NRXN1_ENST00000342183.5_Frame_Shift_Del_p.D141fs|NRXN1_ENST00000401710.1_Frame_Shift_Del_p.D194fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1176	Laminin G-like 6.				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)			TCTAGGTAGTCACCCAAGCCT	0.398													28	72	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													8	123	---	---	---	---					
MLPH	79083	broad.mit.edu	37	2	238434334	238434335	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr2:238434334_238434335insC	ENST00000264605.3	+	7	1060_1061	c.766_767insC	c.(766-768)ccafs	p.P256fs	MLPH_ENST00000410032.1_Intron|MLPH_ENST00000445024.2_Frame_Shift_Ins_p.P256fs|MLPH_ENST00000338530.4_Frame_Shift_Ins_p.P256fs|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_Frame_Shift_Ins_p.P216fs	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	256							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGGGTGCCACTCCCATCCGGAA	0.644													25	66	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													7	112	---	---	---	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													7	337	---	---	---	---					
CHRNB3	1142	broad.mit.edu	37	8	42587480	42587480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr8:42587480delC	ENST00000289957.2	+	5	1158	c.1030delC	c.(1030-1032)cafs	p.P344fs		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	344					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAGAAACTTCCAAAATTACT	0.448													27	72	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													5	2	---	---	---	---					
OR52E8	390079	broad.mit.edu	37	11	5878314	5878315	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:5878314_5878315insA	ENST00000537935.1	-	1	649_650	c.618_619insT	c.(616-621)ctgcaafs	p.Q207fs	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATATGTTGCCAAGGCCAAACC	0.485													31	95	---	---	---	---					
APOA1	335	broad.mit.edu	37	11	116706935	116706937	+	In_Frame_Del	DEL	CTT	CTT	-	rs121912716		TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr11:116706935_116706937delCTT	ENST00000236850.4	-	4	756_758	c.391_393delAAG	c.(391-393)del	p.K131del	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375329.2_In_Frame_Del_p.K109del|APOA1_ENST00000359492.2_In_Frame_Del_p.K131del|APOA1_ENST00000375320.1_In_Frame_Del_p.K131del|APOA1_ENST00000375323.1_In_Frame_Del_p.K131del	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	131	10 X approximate tandem repeats.		K -> M (in dbSNP:rs4882).|Missing (in Marburg/Munster-2).		Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCTCCTGCCACTTCTTCTGGAAG	0.611													22	107	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													2	4	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													4	8	---	---	---	---					
FENDRR	400550	broad.mit.edu	37	16	86531239	86531239	+	RNA	DEL	C	C	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr16:86531239delC	ENST00000595886.1	-	0	206					NR_033925.1																						cccgcccccgcccccggcccc	0.622													2	4	---	---	---	---					
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)del	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													9	106	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr17:56387404_56387406delTCC	ENST00000355701.3	-	21	4683_4685	c.3813_3815delGGA	c.(3811-3816)gaa>ga	p.EE1273del	BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1273	Poly-Glu.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586													7	143	---	---	---	---					
LCA5L	150082	broad.mit.edu	37	21	40778194	40778195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:40778194_40778195insC	ENST00000358268.2	-	10	2154_2155	c.1626_1627insG	c.(1624-1629)ggcagcfs	p.S543fs	LCA5L_ENST00000380671.2_Frame_Shift_Ins_p.S543fs|LCA5L_ENST00000288350.3_Frame_Shift_Ins_p.S543fs|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	543										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GCATTGGCTGGCCCCCCTGAAG	0.515													17	71	---	---	---	---					
LINC00162	378825	broad.mit.edu	37	21	46421847	46421852	+	RNA	DEL	CAGCCC	CAGCCC	-	rs881968	by1000genomes	TCGA-86-8056-01A-11D-2238-08	TCGA-86-8056-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dc6d500-c7f0-4741-92a5-7a8934a53a1e	7cae8f4f-aede-4628-b634-0f0aee76f7eb	g.chr21:46421847_46421852delCAGCCC	ENST00000422199.1	-	0	284					NR_024089.1																						ACGACTGTGTCAgcccctgcccctgc	0.665													4	3	---	---	---	---