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
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662000													4	134					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126227	29126227	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:29126227A>T	ENST00000261590.8	+	15	3087	c.2878A>T	c.(2878-2880)Agc>Tgc	p.S960C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	960					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCAGCCACAGAGCCTTATTGT	0.473000													18	29					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50158922	50158922	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:50158922C>G	ENST00000371564.3	-	1	336	c.117G>C	c.(115-117)ttG>ttC	p.L39F	NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.L39F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672000													13	43					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941413	22941413	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:22941413G>T	ENST00000397104.3	-	5	1024	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363000													30	34					4.74835e-14	5.14405e-14	1	1	0
ZNF175	7728	broad.mit.edu	37	19	52091455	52091455	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:52091455T>C	ENST00000262259.2	+	5	2229	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	624					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGGAAGGCTTTTGTCCAGAAA	0.423000													24	86					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782426	134782426	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:134782426G>A	ENST00000503143.2	-	1	612	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	125						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCCTCCCGCCTGGTCTGG	0.552000													54	91					0	0	1	0	0
OTUB2	78990	broad.mit.edu	37	14	94503790	94503790	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:94503790C>T	ENST00000203664.5	+	2	277	c.68C>T	c.(67-69)cCt>cTt	p.P23L	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	23					cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CGGGACCATCCTGAAAACAGG	0.438000											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	36					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034604	79034604	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:79034604C>T	ENST00000446378.2	+	2	10047	c.10016C>T	c.(10015-10017)gCg>gTg	p.A3339V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3339						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATAAGTTATGCGGTTCCATTT	0.483000													20	30					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464785	76464785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:76464785G>A	ENST00000389840.5	-	55	8774	c.8650C>T	c.(8650-8652)Cga>Tga	p.R2884*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.R2893*|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGGGGTCGCATGGAGGAG	0.542000													17	70					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824505	74824505	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:74824505C>T	ENST00000256362.4	+	2	1260	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	340					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCGGTTCCCGGAGATCTCC	0.662000													29	37					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328000													4	23					0.00909568	0.0092378	1	1	0
FLG	2312	broad.mit.edu	37	1	152281630	152281630	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:152281630C>A	ENST00000368799.1	-	3	5767	c.5732G>T	c.(5731-5733)aGc>aTc	p.S1911I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1911	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)			CTGGTTCCTGCTTGTCCTGGG	0.582000									Ichthyosis				6	296					4.096e-09	4.36459e-09	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	45					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197760	24197760	+	Silent	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:24197760C>T	ENST00000379177.1	+	6	946	c.519C>T	c.(517-519)acC>acT	p.T173T	ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T|ZFX_ENST00000338565.3_Silent_p.T173T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTCTGACTACCGACGTAGTTT	0.463000													7	96					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698443	169698443	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:169698443A>G	ENST00000333360.7	-	7	1113	c.974T>C	c.(973-975)tTc>tCc	p.F325S	SELE_ENST00000367782.4_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367780.4_Missense_Mutation_p.F263S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	325	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTTGAAGGTGAACTCTCCAGC	0.527000													7	31					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85559315	85559315	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:85559315G>C	ENST00000294664.6	+	9	1212	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	WDR63_ENST00000326813.8_Missense_Mutation_p.W305C|WDR63_ENST00000370596.1_Missense_Mutation_p.W305C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	344										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGTCTCATGGCATCCAACTA	0.423000													8	45					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171302046	171302046	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:171302046G>A	ENST00000367749.3	+	7	1156	c.827_splice	c.e7+1	p.G276_splice	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	276					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATTACCAAAGGGTACTTACA	0.254000													21	19					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	rs142688993	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453000													35	95					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004758	102004758	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:102004758C>T	ENST00000372735.1	+	4	1420	c.835C>T	c.(835-837)Cct>Tct	p.P279S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	279						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCCTATCCCTGAGTGTCG	0.483000													54	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073357	9073357	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9073357C>G	ENST00000397910.4	-	3	14292	c.14089G>C	c.(14089-14091)Gac>Cac	p.D4697H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D4697Y(2)|p.D330Y(1)		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						GTTGATGTGTCTAAGGCAAGT	0.473000													6	109					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157391	154157391	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:154157391G>C	ENST00000360256.4	-	14	4874	c.4674C>G	c.(4672-4674)aaC>aaG	p.N1558K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1558	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCAGGTCTGTTTGCTTCAT	0.493000													37	154					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	992630	992630	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:992630A>G	ENST00000537687.1	+	16	4982	c.4339A>G	c.(4339-4341)Aaa>Gaa	p.K1447E	WNK1_ENST00000315939.6_Missense_Mutation_p.K1187E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1187					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATTATTGAAAAAGCTGATGA	0.403000													4	69					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38805189	38805189	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338000													9	58					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	45					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11138480	11138480	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:11138480C>T	ENST00000358026.2	+	24	3520	c.3236C>T	c.(3235-3237)tCg>tTg	p.S1079L	SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TACCGAGCCTCGGGTAAATTT	0.532000			"""F, N, Mis"""		NSCLC								60	59					0	0	1	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237207	26237207	+	RNA	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:26237207A>G	ENST00000519902.1	-	0	2741																											TCGGCTCTTCATCACTGTCGA	0.448000													8	35					0	0	1	0	0
IKBKE	0	broad.mit.edu	37	1	206653790	206653790	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:206653790G>A	ENST00000367120.3	+	13	1714	c.1340_splice	c.e13-1	p.M447_splice	IKBKE_ENST00000537984.1_Splice_Site_p.M362_splice|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	447	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTTGGACAGGGAGGTGCTCC	0.622000													8	12					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464558	73464558	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:73464558T>C	ENST00000556143.1	-	3	1669	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	317						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCATGGAAGATGATAACTGCA	0.537000													14	21					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													4	51					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	129					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269642	1269642	+	Silent	SNP	C	C	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:1269642C>A	ENST00000447027.1	+	31	11599	c.11541C>A	c.(11539-11541)acC>acA	p.T3847T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3844T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACAACCAGGGCCACCG	0.632000													4	195					2.56e-06	2.68387e-06	1	1	0
GAS6	2621	broad.mit.edu	37	13	114531573	114531573	+	Missense_Mutation	SNP	G	G	C	rs149411733		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:114531573G>C	ENST00000357389.3	-	11	1536	c.1384C>G	c.(1384-1386)Ctg>Gtg	p.L462V	GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.L419V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V			Q14393	GAS6_HUMAN	growth arrest-specific 6	462	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GTCAGGTTCAGATGATACAGT	0.577000													22	51					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904148	129904148	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:129904148G>C	ENST00000368654.3	-	13	6331	c.5956C>G	c.(5956-5958)Cca>Gca	p.P1986A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1986	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTGGGTCTGGTTGTGGAGAT	0.488000													9	246					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649165	130649165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:130649165G>A	ENST00000229030.4	+	1	2162	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	560					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTACAAAAAAGCCCAGCATCC	0.592000													7	17					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299816	125299816	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:125299816G>A	ENST00000538699.1	-	2	172	c.92C>T	c.(91-93)gCg>gTg	p.A31V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCTCCGTCCGCCGCCGCTAA	0.701000													14	22					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52793851	52793851	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:52793851C>T	ENST00000257974.2	-	5	937	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	287	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCGATGATGCCGTCCACGTC	0.617000													3	52					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228468	204228468	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:204228468C>T	ENST00000272203.3	-	8	1241	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	309	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGCTGGGCAATTTTGTCA	0.647000													37	61					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567468	73567468	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:73567468T>C	ENST00000224721.6	+	58	8524	c.8519T>C	c.(8518-8520)gTg>gCg	p.V2840A	CDH23_ENST00000398788.3_Missense_Mutation_p.V595A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2835	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGCGCGTTGTGCTAGAGGAC	0.637000													6	11					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698028	17698028	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:17698028C>T	ENST00000353383.1	+	3	2235	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	589						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGTTCGTGGCGGGTGAGCGG	0.632000													19	58					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147466068	147466068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:147466068A>G	ENST00000359874.3	+	5	456	c.383A>G	c.(382-384)aAc>aGc	p.N128S	SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S|SPINK5_ENST00000256084.7_Missense_Mutation_p.N128S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	128	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATATGACAACAGATGTGCA	0.378000													3	86					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233756167	233756167	+	Missense_Mutation	SNP	G	G	C	rs148012306		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:233756167G>C	ENST00000264051.3	-	8	1451	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	391	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTAGCTGCGCGATCAGCTCCC	0.612000													20	23					0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9911660	9911660	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr3:9911660C>G	ENST00000336832.2	-	5	599	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	154					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCAATGAAGTCCTGTGGGTTC	0.512000													34	49					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824520	70824520	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:70824520A>G	ENST00000373695.1	+	7	1930	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	ACRC_ENST00000373696.3_Missense_Mutation_p.T465A			Q96QF7	ACRC_HUMAN	acidic repeat containing	465	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTATCTGTGACACCTGGTAA	0.473000													8	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069138	9069138	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9069138T>G	ENST00000397910.4	-	3	18511	c.18308A>C	c.(18307-18309)gAt>gCt	p.D6103A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6105	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						AGTAGCAGCATCCAGGGACAC	0.498000													3	24					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:12855741G>A	ENST00000332296.7	+	4	1124	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	341										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532000													67	164					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3175464	3175464	+	Silent	SNP	C	C	T	rs35828349	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:3175464C>T	ENST00000381075.2	+	21	2180	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	PFKP_ENST00000381072.1_Silent_p.G78G|PFKP_ENST00000381125.4_Silent_p.G660G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	660					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGGCAAAGGCGTGTTTGACT	0.493000													44	145					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	31					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906365	5906365	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:5906365T>C	ENST00000316987.2	+	1	865	c.843T>C	c.(841-843)taT>taC	p.Y281Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACCTGTATGTGGTTGTCC	0.388000													69	87					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894928	219894928	+	Silent	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:219894928T>C	ENST00000341552.5	-	10	1247	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000409865.3_Silent_p.V377V|CCDC108_ENST00000410037.1_Silent_p.V323V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	388						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGCATTTACCTGTGTGG	0.567000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	63					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32459327	32459327	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:32459327G>A	ENST00000357033.4	-	28	4097	c.3891C>T	c.(3889-3891)ggC>ggT	p.G1297G	DMD_ENST00000378677.2_Silent_p.G1293G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCAGCTCCGCCAGGAATGT	0.353000													31	15					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35322128	35322128	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:35322128T>G	ENST00000374748.1	-	12	1389	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T			Q13617	CUL2_HUMAN	cullin 2	359					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTGATCACCATTCAAAACAGT	0.308000													25	75					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral to membrane|plasma membrane		p.E392K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCTGTTCCTCGGAAAGTCTA	0.502000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			131	62					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204281776	204281776	+	Silent	SNP	G	G	A			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:204281776G>A	ENST00000295851.4	+	10	1634	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	ABI2_ENST00000261017.5_Silent_p.P408P|ABI2_ENST00000422511.2_Silent_p.P413P|ABI2_ENST00000261018.7_Silent_p.P232P|ABI2_ENST00000261016.6_Silent_p.P334P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000430418.1_Silent_p.P391P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	446					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGGACCCACCGTGGGCTCCAC	0.468000													3	63					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632083	156632083	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr4:156632083T>C	ENST00000296518.7	+	6	975	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTGTTGTACTCCGTTCACAT	0.483000													4	69					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)afs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													8	92	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29761783	29761784	+	RNA	INS	-	-	G			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:29761783_29761784insG	ENST00000457107.1	+	0	1009_1010																											ggattggtgcaaagccctgctt	0.550													2	4	---	---	---	---					
MACC1	346389	broad.mit.edu	37	7	20198631	20198635	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:20198631_20198635delTTCTC	ENST00000400331.5	-	5	1657_1661	c.1349_1353delGAGAA	c.(1348-1353)gfs	p.GE450fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	450					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTTCCTTTCTCCTTCTGTCTT	0.346													38	26	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578418	7578418	+	Frame_Shift_Del	DEL	T	T	-	rs66983534		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:7578418delT	ENST00000420246.2	-	5	644	c.512delA	c.(511-513)ggfs	p.E171fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs	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.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(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)		CCTCACAACCTCCGTCATGTG	0.662		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)			78	8	---	---	---	---					
TBC1D3P1-DHX40P1	0	broad.mit.edu	37	17	58090681	58090681	+	RNA	DEL	T	T	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:58090681delT	ENST00000407042.3	-	0	609																											CTCTGAATGATTTTTTTTTTT	0.458													4	7	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4929125	4929125	+	RNA	DEL	C	C	-	rs66904189		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607													6	10	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62839165	62839168	+	Frame_Shift_Del	DEL	GCCA	GCCA	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839165_62839168delGCCA	ENST00000536311.1	+	7	980_983	c.616_619delGCCA	c.(616-621)gcfs	p.AS206fs	MYT1_ENST00000328439.1_Frame_Shift_Del_p.AS206fs|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	206	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGGAGCTGCCAGCGAGGAGGG	0.623													13	72	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-	rs143133195	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839435_62839440delGAGGAA	ENST00000536311.1	+	7	1250_1255	c.886_891delGAGGAA	c.(886-891)del	p.EE304del	MYT1_ENST00000328439.1_In_Frame_Del_p.EE304del|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	304	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaagaggaggaggaagaggaagagg	0.587													16	61	---	---	---	---					
PCMTD2	55251	broad.mit.edu	37	20	62896749	62896749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62896749delG	ENST00000308824.6	+	4	676	c.549delG	c.(547-549)gtfs	p.V183fs	PCMTD2_ENST00000369758.3_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	183						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCAAAGTGGGAGGGATCC	0.488													21	93	---	---	---	---