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
CLCA4	22802	broad.mit.edu	37	1	87045673	87045673	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:87045673A>G	ENST00000370563.3	+	14	2447	c.2405A>G	c.(2404-2406)gAc>gGc	p.D802G	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	802						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATCTAAGAGACAGTTTTGAT	0.343													5	51	---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231337222	231337222	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr1:231337222A>C	ENST00000444294.3	+	5	2351	c.1493A>C	c.(1492-1494)cAg>cCg	p.Q498P	TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	498	COS.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCGCTGCTGCAGGCCATCCAC	0.572													5	19	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116066820	116066820	+	Silent	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066820G>T	ENST00000410059.1	+	2	546	c.66G>T	c.(64-66)ctG>ctT	p.L22L	DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	22	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAGGAACTGGGAAGTAACA	0.393													14	32	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116066821	116066821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr2:116066821G>T	ENST00000410059.1	+	2	547	c.67G>T	c.(67-69)Gga>Tga	p.G23*	DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000409163.1_5'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	23	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAGGAACTGGGAAGTAACAG	0.393													15	32	---	---	---	---
LIMD1	8994	broad.mit.edu	37	3	45637533	45637533	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:45637533C>T	ENST00000273317.4	+	1	1183	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	388					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCACCAGTCTTGTCCATCC	0.612													14	20	---	---	---	---
IMPDH2	3615	broad.mit.edu	37	3	49065748	49065748	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr3:49065748C>T	ENST00000326739.4	-	4	296	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	86					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GCCAATACCGCCTGTAAGCTA	0.493													8	61	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34499460	34499460	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr6:34499460C>A	ENST00000538621.1	+	9	1366	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	374					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGCAGTGAGACCAACGGGGGC	0.627													13	148	---	---	---	---
HOXA9	3205	broad.mit.edu	37	7	27204581	27204581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:27204581T>A	ENST00000343483.6	-	1	568	c.496A>T	c.(496-498)Aga>Tga	p.R166*	RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	166							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGTTTTTCTCTATCAACTGGA	0.537			T	"""NUP98, MSI2"""	AML*								9	50	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123302800	123302800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr7:123302800C>A	ENST00000458573.2	+	2	1317	c.1160C>A	c.(1159-1161)tCt>tAt	p.S387Y	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	387	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										ACACCTAGCTCTTCACCTTAT	0.512													31	79	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3293175	3293175	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:3293175G>A	ENST00000382004.3	-	7	944	c.633C>T	c.(631-633)caC>caT	p.H211H	RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	211					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTCCTGACAGTGTCGAAGGT	0.463													5	80	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18504838	18504838	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr9:18504838C>T	ENST00000380548.4	+	2	414	c.75C>T	c.(73-75)acC>acT	p.T25T	ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	25						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGGACCGCACGCTCCG	0.577													5	81	---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27499985	27499985	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:27499985T>C	ENST00000396271.3	-	9	1088	c.962A>G	c.(961-963)aAt>aGt	p.N321S	ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000476758.1_5'UTR	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	330					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAATGGTCCATTGTTGGACGT	0.363													13	88	---	---	---	---
NUDT13	25961	broad.mit.edu	37	10	74881976	74881976	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr10:74881976A>C	ENST00000357321.4	+	4	385	c.267A>C	c.(265-267)agA>agC	p.R89S	NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	89							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGCACAAAGAATAGAAGATT	0.433													5	129	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20078087	20078087	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:20078087A>G	ENST00000540292.1	+	22	4705	c.4705A>G	c.(4705-4707)Aaa>Gaa	p.K1569E	NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E			Q8IVL1	NAV2_HUMAN	neuron navigator 2	1638	Ser-rich.					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						ATCATGGGAGAAAAGTTCTGT	0.383													15	49	---	---	---	---
GLYATL2	219970	broad.mit.edu	37	11	58604621	58604621	+	Silent	SNP	T	T	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:58604621T>G	ENST00000287275.1	-	5	733	c.343A>C	c.(343-345)Aga>Cga	p.R115R	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	115						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCAACCTTTCTTATTGCTTCA	0.398													42	86	---	---	---	---
BSX	390259	broad.mit.edu	37	11	122848488	122848488	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr11:122848488C>A	ENST00000343035.2	-	3	619	c.571G>T	c.(571-573)Ggt>Tgt	p.G191C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	191										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		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;0.0361)		GCCTCTGAACCGCGGGGGCTG	0.657													10	25	---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	64006397	64006397	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr14:64006397A>G	ENST00000337537.3	-	2	609	c.7T>C	c.(7-9)Tca>Cca	p.S3P	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	3					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTTGGTGCTGAGGACATATCC	0.418													14	48	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73007695	73007695	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:73007695T>A	ENST00000268057.4	+	5	325	c.284T>A	c.(283-285)gTt>gAt	p.V95D	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	95					adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACATGTGCAGTTCTTAGTCCT	0.433									Bardet-Biedl syndrome				16	33	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75651127	75651127	+	Missense_Mutation	SNP	C	C	T	rs140277288	byFrequency	TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr15:75651127C>T	ENST00000565683.1	-	19	2226	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	722					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGTTCCCCACGGCGCCCTCA	0.572													3	41	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47493029	47493029	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:47493029A>G	ENST00000320640.6	-	2	494	c.266T>C	c.(265-267)gTa>gCa	p.V89A	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	89						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGATACCTTTACTTTGGGTTT	0.274													14	57	---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66770010	66770010	+	Silent	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr16:66770010G>A	ENST00000258198.2	-	5	873	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	223					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552													4	50	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36213342	36213342	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:36213342G>A	ENST00000222270.7	+	4	2539	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GTCTGAAGATGAGTCGGTGGA	0.637													6	18	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43698504	43698504	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:43698504C>T	ENST00000405312.3	-	5	1468	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	411					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GAGACTTTGACTGTGATGGAT	0.453													76	210	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760375	54760375	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr19:54760375T>A	ENST00000450632.1	-	3	409	c.332A>T	c.(331-333)gAc>gTc	p.D111V	LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	Ig-like C2-type 1.|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCCAGGGGGTCACTGGGCTC	0.622													32	93	---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43576901	43576901	+	Silent	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr22:43576901C>T	ENST00000216129.6	-	3	456	c.393G>A	c.(391-393)gcG>gcA	p.A131A		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	131					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTGCTGGCGCGCGTGCTCCA	0.667													4	69	---	---	---	---
VCX	26609	broad.mit.edu	37	X	7811726	7811726	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:7811726A>G	ENST00000381059.3	+	3	509	c.290A>G	c.(289-291)gAg>gGg	p.E97G	VCX_ENST00000341408.4_Missense_Mutation_p.E97G	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	97	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCAGTGAGCGAGGGGACCCAG	0.697													4	79	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153137810	153137810	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:153137810C>T	ENST00000370060.1	-	5	387		c.e5-1		L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGGAACCTGTGGGCGGA	0.647													7	9	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156186353	156186353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr5:156186353delG	ENST00000435422.3	+	8	1309	c.822delG	c.(820-822)cagfs	p.Q274fs	SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	274					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTGTCTCAGGCAGGAGCTG	0.502													9	157	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445273	49445274	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chr12:49445273_49445274delCT	ENST00000301067.7	-	10	2191_2192	c.2192_2193delAG	c.(2191-2193)gagfs	p.E731fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGAGTTGCGGCTCCTCAGGTAG	0.688													28	59	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128631828	128631829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FN-01A-11D-A34U-08	TCGA-EJ-A8FN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4526e2b2-d20d-4290-baf5-8d331fce6902	626f7f57-e6e8-4413-8a05-942c859a6d61	g.chrX:128631828_128631829insT	ENST00000371122.4	-	11	1626_1627	c.1497_1498insA	c.(1495-1500)aaagaafs	p.E500fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	500	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCACCCTGTTCTTTGAGTTTGG	0.312													28	18	---	---	---	---
