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
BRS3	680	broad.mit.edu	37	X	135574235	135574235	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:135574235T>G	ENST00000370648.3	+	3	1129	c.901T>G	c.(901-903)Tat>Gat	p.Y301D		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	301					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTCTCAAACCTATGTAGACCC	0.473000													16	155					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493020	27493020	+	Silent	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:27493020G>C	ENST00000527372.1	-	2	1119	c.939C>G	c.(937-939)ctC>ctG	p.L313L	MYO18A_ENST00000533112.1_Silent_p.L313L|MYO18A_ENST00000354329.4_Silent_p.L313L|MYO18A_ENST00000531253.1_Silent_p.L313L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	313					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGAGCTCGCTGAGCTCTGGAA	0.632000													6	882					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36841122	36841122	+	RNA	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:36841122C>T	ENST00000557188.1	+	0	753																											ACCTTTTTTTCTTGCTAGTAA	0.348000													6	59					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779520	31779520	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:31779520C>T	ENST00000375654.4	-	2	419	c.230G>A	c.(229-231)gGc>gAc	p.G77D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G77D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	77					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAATTTCCTGCCGATCAGACG	0.463000													55	99					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997802	115997802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr4:115997802C>T	ENST00000264363.2	-	2	1069	c.391G>A	c.(391-393)Gtt>Att	p.V131I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	131	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCATAAATAACTAAAGTATAT	0.368000													19	10					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51720706	51720706	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:51720706G>T	ENST00000371117.3	-	49	8171	c.7896C>A	c.(7894-7896)atC>atA	p.I2632I	PKHD1_ENST00000340994.4_Silent_p.I2632I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2632					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGATCTGTTGATCCAAAGGT	0.423000													48	93					5.13769e-22	5.74866e-22	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14109018	14109018	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:14109018C>T	ENST00000235372.7	+	8	5584	c.4728C>T	c.(4726-4728)tcC>tcT	p.S1576S	PRDM2_ENST00000343137.4_Silent_p.S1375S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.S1375S|PRDM2_ENST00000311066.5_Silent_p.S1576S|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1576						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAAGGAACTCCAGCCCGATAA	0.463000													45	66					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97686380	97686380	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:97686380T>C	ENST00000333396.7	-	2	640	c.58A>G	c.(58-60)Aag>Gag	p.K20E	MINA_ENST00000330299.2_Missense_Mutation_p.K20E|MINA_ENST00000360258.4_Missense_Mutation_p.K20E|MINA_ENST00000394198.2_Missense_Mutation_p.K20E	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTCATCTGCTTACAGGGAGCC	0.483000													19	28					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30892159	30892159	+	Missense_Mutation	SNP	C	C	T	rs138341222		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:30892159C>T	ENST00000321897.5	+	25	3127	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	VARS2_ENST00000416670.2_Missense_Mutation_p.S832L|VARS2_ENST00000542001.1_Missense_Mutation_p.S692L|VARS2_ENST00000541562.1_Missense_Mutation_p.S862L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	832					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTGTGGCACTCGCCCCGCCCC	0.682000													28	44					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000945	17000945	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:17000945A>T	ENST00000248076.3	+	2	1001	c.671A>T	c.(670-672)gAt>gTt	p.D224V		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	224					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGCGCTCCGATCGCGTGCTC	0.701000													5	15					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620913	46620913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:46620913C>T	ENST00000330070.4	-	2	1755	c.588G>A	c.(586-588)atG>atA	p.M196I	HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	196					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCTTGTGCTTCATGCGCCGGT	0.652000													36	67					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCCAGCCGCACACTGTCC	0.622000													6	395					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121154715	121154715	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:121154715G>T	ENST00000344651.4	+	4	553	c.513G>T	c.(511-513)cgG>cgT	p.R171R		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	171										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAACTTCCGGATGATCGAAC	0.468000													33	88					6.04164e-23	6.83399e-23	1	1	0
ZFY	7544	broad.mit.edu	37	Y	2847293	2847293	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrY:2847293C>T	ENST00000155093.3	+	8	1986	c.1665C>T	c.(1663-1665)caC>caT	p.H555H	ZFY_ENST00000478783.1_3'UTR|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000383052.1_Silent_p.H555H|ZFY_ENST00000431102.1_Silent_p.H364H|ZFY_ENST00000449237.1_Silent_p.H478H	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	555				H -> Y (in Ref. 2; AAA61310).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GTTTCCGACACCCGTCGGAAC	0.473000													50	237					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823306	39823306	+	Missense_Mutation	SNP	G	G	A	rs142001499		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:39823306G>A	ENST00000564288.1	+	45	12461	c.11684G>A	c.(11683-11685)cGa>cAa	p.R3895Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R1833Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R3932Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R2335Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R1833Q|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.R1833Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R1833Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R3900Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3900					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTTGGAACGATCCGAGAAA	0.512000													27	48					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101195403	101195403	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:101195403G>C	ENST00000556051.1	+	3	301	c.262G>C	c.(262-264)Ggt>Cgt	p.G88R	DLK1_ENST00000341267.4_Splice_Site_p.D88H|DLK1_ENST00000331224.6_Splice_Site_p.D88H			P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	235	EGF-like 3.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CTGTGATAGAGGTTGGCACTC	0.612000													27	43					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6645883	6645883	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:6645883A>G	ENST00000229239.5	+	4	829	c.163A>G	c.(163-165)Aaa>Gaa	p.K55E	GAPDH_ENST00000396859.1_Missense_Mutation_p.K55E|GAPDH_ENST00000396861.1_Missense_Mutation_p.K55E|GAPDH_ENST00000396858.1_Missense_Mutation_p.K13E|GAPDH_ENST00000396856.1_5'UTR	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	55	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CACCCATGGCAAATTCCATGG	0.507000													8	99					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279744	17279744	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:17279744G>A	ENST00000253692.7	-	17	3163	c.1499C>T	c.(1498-1500)tCa>tTa	p.S500L	TBC1D5_ENST00000429383.4_Missense_Mutation_p.S500L|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S500L|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S452L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	500						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGCCTCTGCTGAGGTCCTGGT	0.517000													24	18					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521471	131521471	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:131521471C>G	ENST00000423981.1	+	2	1936	c.1826C>G	c.(1825-1827)tCt>tGt	p.S609C	AMER3_ENST00000321420.4_Missense_Mutation_p.S609C	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CGAGGTCACTCTGAAGGCTTG	0.587000													39	80					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506817	11506817	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:11506817G>T	ENST00000500254.2	-	3	257	c.220C>A	c.(220-222)Cca>Aca	p.P74T	PRB1_ENST00000546254.1_Missense_Mutation_p.P74T|PRB1_ENST00000545626.1_Missense_Mutation_p.P74T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	257	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGTGGGGGA	0.617000													16	647					1.3612e-06	1.42308e-06	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs13296987	byFrequency	TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q|SMARCA2_ENST00000357248.2_Silent_p.Q222Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637000													3	24					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100491	27100491	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:27100491C>G	ENST00000607124.1	-	1	38	c.39G>C	c.(37-39)aaG>aaC	p.K13N	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K13N|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K13N			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TCTTGGAGCCCTTTTTCGGGG	0.532000													59	94					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			35	28					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41789950	41789950	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr8:41789950G>A	ENST00000396930.3	-	18	6331	c.5788C>T	c.(5788-5790)Ccc>Tcc	p.P1930S	KAT6A_ENST00000406337.1_Missense_Mutation_p.P1930S|KAT6A_ENST00000265713.2_Missense_Mutation_p.P1930S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1930	Met-rich.|Required for activation of RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TTCATCATGGGCTGTGTCATT	0.468000													65	30					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387278	45387278	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:45387278G>C	ENST00000389039.6	-	32	4636	c.4251C>G	c.(4249-4251)atC>atG	p.I1417M	DUOX2_ENST00000603300.1_Missense_Mutation_p.I1417M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1417					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTGTCACCCAGATGAAGTAGA	0.577000													9	9					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31238864	31238864	+	Missense_Mutation	SNP	G	G	A	rs17413685		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:31238864G>A	ENST00000383329.3	-	3	619	c.605C>T	c.(604-606)aCg>aTg	p.T202M	HLA-C_ENST00000376228.5_Missense_Mutation_p.T202M			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	202	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCGCTGCAGCGTCTCCTTCCC	0.657000													5	21					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968692	4968692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrY:4968692G>A	ENST00000333703.4	+	5	3553	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D1025N|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D1025N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1025					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCGTTTCTGACTGTGGCTA	0.458000													60	686					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39835462	39835462	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:39835462G>C	ENST00000538976.1	+	6	787	c.605G>C	c.(604-606)aGt>aCt	p.S202T	DAAM2_ENST00000398904.2_Missense_Mutation_p.S202T|DAAM2_ENST00000274867.4_Missense_Mutation_p.S202T	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	202	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGGCCATTAGTACCATAGCC	0.577000													36	61					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18900094	18900094	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:18900094G>T	ENST00000542601.2	-	4	693	c.304C>A	c.(304-306)Ccc>Acc	p.P102T	COMP_ENST00000425807.1_Intron|COMP_ENST00000222271.2_Missense_Mutation_p.P135T			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	135	EGF-like 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGAAGCAGGGGTGGGCGTTG	0.701000													6	7					8.12818e-05	8.45495e-05	1	1	0
SMCR8	140775	broad.mit.edu	37	17	18219839	18219839	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:18219839C>A	ENST00000406438.3	+	1	1216	c.736C>A	c.(736-738)Cat>Aat	p.H246N		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	246										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CATCATTGAACATCAAGACCT	0.493000													23	21					1.22574e-08	1.30117e-08	1	1	0
HIPK4	147746	broad.mit.edu	37	19	40886890	40886890	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:40886890G>A	ENST00000291823.2	-	3	1292	c.1008C>T	c.(1006-1008)atC>atT	p.I336I		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	336	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CACTGGGGCTGATGCGTTCGT	0.647000													43	58					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090802	52090802	+	Silent	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:52090802C>G	ENST00000262259.2	+	5	1576	c.1218C>G	c.(1216-1218)ctC>ctG	p.L406L	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	406					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)		ACTCAACCCTCATTATACATC	0.423000													31	63					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387155	45387155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:45387155G>C	ENST00000389039.6	-	32	4759	c.4374C>G	c.(4372-4374)ttC>ttG	p.F1458L	DUOX2_ENST00000603300.1_Missense_Mutation_p.F1458L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1458					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCTGAGGTCGAACTTCTCAG	0.587000													26	29					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134620517	134620517	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:134620517G>T	ENST00000361388.2	+	6	1165		c.e6+1		CALD1_ENST00000495522.1_Splice_Site|CALD1_ENST00000393118.2_Splice_Site|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361675.2_Splice_Site|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000422748.1_Splice_Site	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1						cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAAAGAAGAGGTAAATATGAT	0.353000													7	7					0.00198382	0.00202291	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33945141	33945141	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:33945141C>T	ENST00000361328.3	+	2	405	c.252C>T	c.(250-252)atC>atT	p.I84I	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.I84I	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	84	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCGGAGATCCGTCTCAAAG	0.612000													27	34					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066724	62066724	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:62066724A>T	ENST00000404929.1	-	3	1426	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N	FAM161A_ENST00000405894.3_Missense_Mutation_p.I472N	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	472					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCTGCCAAAATTTTTTCTCT	0.383000													21	39					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119112388	119112388	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:119112388C>G	ENST00000264245.4	+	8	1488	c.956C>G	c.(955-957)tCa>tGa	p.S319*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	319					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACTCCAAATCAAAACTGAGT	0.388000													68	82					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931564	45931564	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:45931564G>A	ENST00000275525.3	+	3	849	c.553G>A	c.(553-555)Gag>Aag	p.E185K	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Missense_Mutation_p.E185K	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	185	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAGAGTCGTAGAGAGTTTAGC	0.413000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	10					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45730155	45730155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:45730155G>C	ENST00000290158.4	+	3	602	c.195G>C	c.(193-195)ttG>ttC	p.L65F	KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000535458.2_5'UTR|KPNB1_ENST00000577918.1_3'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	65	Importin N-terminal.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGAACTCTTTGACATCTAAAG	0.453000													13	54					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558541	113558541	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:113558541C>T	ENST00000284601.3	-	1	579	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	171	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTAAAATGTCATAATGTGTC	0.343000													18	27					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122114542	122114542	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:122114542C>G	ENST00000334010.7	-	12	2315	c.1894G>C	c.(1894-1896)Gat>Cat	p.D632H	CADPS2_ENST00000412584.2_Missense_Mutation_p.D628H|CADPS2_ENST00000449022.2_Missense_Mutation_p.D631H|CADPS2_ENST00000313070.7_Missense_Mutation_p.D628H	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	631					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATAAACTCATCCATACCATGT	0.383000													14	27					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76047033	76047033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:76047033G>A	ENST00000335749.4	+	3	2459	c.1890G>A	c.(1888-1890)tgG>tgA	p.W630*	TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.W630*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.W630*|TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.W630*|TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.W630*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.W630*	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	630	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTCTGGTTGGAATGACACCA	0.512000													22	61					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131362391	131362391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr9:131362391G>A	ENST00000358161.5	+	27	3689	c.3576G>A	c.(3574-3576)tgG>tgA	p.W1192*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.W1192*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.W1192*			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1192					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCCCCGTGGAAGGTAAGAA	0.408000													13	15					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133884047	133884047	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:133884047G>C	ENST00000285928.2	+	14	1690	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	541	Guanylate kinase-like.						ATP binding|kinase activity	p.E541K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGAAAAATATGAGGGATATTT	0.363000													57	91					0	0	1	0	0
ZC3H8	84524	broad.mit.edu	37	2	112995893	112995893	+	Splice_Site	SNP	C	C	G	rs112280995	by1000genomes	TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:112995893C>G	ENST00000409573.2	-	3	498	c.369G>C	c.(367-369)caG>caC	p.Q123H	ZC3H8_ENST00000272570.5_Splice_Site_p.Q123H			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8						apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						GACTCTTACCCTGTGGGGTAT	0.373000													33	61					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58258810	58258810	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:58258810C>T	ENST00000300896.4	-	32	4617	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K	USP32_ENST00000592339.1_Missense_Mutation_p.E1145K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1475					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GCTTCATGCTCATAAAGGAAT	0.517000													57	77					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159912784	159912784	+	Silent	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:159912784G>C	ENST00000368094.1	-	3	413	c.216C>G	c.(214-216)ctC>ctG	p.L72L	IGSF9_ENST00000361509.3_Silent_p.L72L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	72	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGAGAGTAGAGGCCGAACT	0.602000													20	40					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496795	54496795	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:54496795G>A	ENST00000375135.3	-	4	1488	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	252	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGGGCACTGGTGGCTGCGA	0.672000													10	5					0	0	1	0	0
GPSM2	29899	broad.mit.edu	37	1	109446807	109446807	+	Missense_Mutation	SNP	C	C	G	rs113407652		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:109446807C>G	ENST00000406462.2	+	11	1896	c.1123C>G	c.(1123-1125)Ctt>Gtt	p.L375V	GPSM2_ENST00000264126.3_Missense_Mutation_p.L375V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAAATGGTTCTTGGTCTGAG	0.333000													11	24					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138038	203138038	+	Silent	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:203138038G>C	ENST00000255416.4	-	9	1470	c.1413C>G	c.(1411-1413)gtC>gtG	p.V471V		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	471					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TCTCACCTTTGACCTCCAGCC	0.552000													96	171					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767396	39767396	+	Silent	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:39767396C>A	ENST00000301653.4	-	4	922	c.858G>T	c.(856-858)ctG>ctT	p.L286L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	286	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCATCTCATTCAGGATGCGGC	0.607000													65	196					2.03366e-24	2.32579e-24	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25670388	25670388	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr13:25670388C>T	ENST00000281589.3	+	1	89	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	18	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGTGGGGGACCTCCACCCCGA	0.647000													16	117					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812565	47812565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr18:47812565C>T	ENST00000285106.6	-	4	1000	c.286G>A	c.(286-288)Gag>Aag	p.E96K	CXXC1_ENST00000412036.2_Missense_Mutation_p.E96K|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Missense_Mutation_p.E96K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	96					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTCCCGCTCATTGCCATCC	0.627000													81	44					0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57261362	57261362	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:57261362G>C	ENST00000537866.1	+	11	2143	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	RSPRY1_ENST00000394420.4_Missense_Mutation_p.E424Q|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	424	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						ATGCTGGAAAGAAGGTATTCA	0.413000													4	45					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003434	52003434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:52003434G>C	ENST00000291707.3	-	2	603	c.548C>G	c.(547-549)tCt>tGt	p.S183C	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S65C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	183	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACAGGGCTAGAGGCAGTCCA	0.537000													48	96					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648035	41648035	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr21:41648035A>G	ENST00000400454.1	-	11	2822	c.2345T>C	c.(2344-2346)cTc>cCc	p.L782P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	782	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTAACCGTGAGGTACATGGA	0.468000													27	80					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45173789	45173789	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:45173789T>C	ENST00000429094.2	-	4	856	c.352A>G	c.(352-354)Agt>Ggt	p.S118G	NELL2_ENST00000333837.4_Missense_Mutation_p.S141G|NELL2_ENST00000395487.2_Missense_Mutation_p.S117G|NELL2_ENST00000437801.2_Missense_Mutation_p.S168G|NELL2_ENST00000452445.2_Missense_Mutation_p.S118G|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000551601.1_Missense_Mutation_p.S117G|NELL2_ENST00000549027.1_Missense_Mutation_p.S117G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	118	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGCCACTACTTTCCAGTTCC	0.463000													8	122					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15616531	15616531	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:15616531G>C	ENST00000321169.5	-	10	1229	c.862C>G	c.(862-864)Cat>Gat	p.H288D	HACL1_ENST00000456194.2_Missense_Mutation_p.H261D|HACL1_ENST00000451445.2_Missense_Mutation_p.H206D|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.H262D	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	288					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						AGTCCAAAATGTAAAATCCAA	0.328000													30	78					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968404	4968404	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrY:4968404G>T	ENST00000333703.4	+	5	3265	c.2752G>T	c.(2752-2754)Gac>Tac	p.D918Y	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.D929Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.D929Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	929					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGATGTTGACAGTGATGG	0.383000													55	499					6.4308e-24	7.31415e-24	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749230	25749230	+	RNA	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:25749230C>T	ENST00000586223.1	+	0	1131					NR_033892.1																						GTCAGTCCTCCTGAACATTCA	0.502000													8	26					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968709	4968709	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrY:4968709G>T	ENST00000333703.4	+	5	3570	c.3057G>T	c.(3055-3057)gtG>gtT	p.V1019V	PCDH11Y_ENST00000362095.5_Silent_p.V1030V|PCDH11Y_ENST00000215473.6_Silent_p.V1030V	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1030					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTATCCAGTGACAACCTTCG	0.428000													51	651					7.36392e-32	8.46851e-32	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7295802	7295802	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:7295802A>G	ENST00000537408.1	+	11	2316	c.1778A>G	c.(1777-1779)gAt>gGt	p.D593G	CLSTN3_ENST00000266546.6_Missense_Mutation_p.D581G			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	581					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGAGGGGGATGATGTGGAG	0.632000													5	169					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139085554	139085554	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:139085554C>G	ENST00000333188.5	-	15	1921	c.1740G>C	c.(1738-1740)ttG>ttC	p.L580F	COPB2_ENST00000507777.1_Missense_Mutation_p.L551F	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	580					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATGATGTTCAATTCTTTAT	0.418000													23	63					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778094	43778094	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:43778094C>T	ENST00000372476.3	+	12	1828	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R	TIE1_ENST00000433781.2_Silent_p.R228R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	583	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCTGCTGCGCCTGTGGGACG	0.701000													33	40					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50723753	50723753	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:50723753T>A	ENST00000515869.1	-	6	2932	c.2812A>T	c.(2812-2814)Att>Ttt	p.I938F	PGBD3_ENST00000603152.1_Missense_Mutation_p.I938F|PGBD3_ENST00000508005.2_Missense_Mutation_p.I470F|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.I938F|PGBD3_ENST00000374127.3_Missense_Mutation_p.I470F	NM_001277059.1	NP_001263988.1																					TACTTATCAATGTTTTCATCA	0.398000													56	110					0	0	1	0	0
NADK2	133686	broad.mit.edu	37	5	36241623	36241623	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:36241623G>T	ENST00000381937.4	-	1	277	c.278C>A	c.(277-279)tCg>tAg	p.S93*	NADK2_ENST00000514504.1_Nonsense_Mutation_p.S93*|NADK2_ENST00000282512.3_Intron|NADK2_ENST00000506945.1_Intron	NM_001085411.1	NP_001078880.1			NAD kinase 2, mitochondrial																		GTCCTCCTCCGAGAGCTCCGC	0.741000													14	11					9.16793e-09	9.78228e-09	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37117254	37117254	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:37117254G>C	ENST00000435416.1	+	3	1947	c.452G>C	c.(451-453)aGa>aCa	p.R151T	ZNF382_ENST00000292928.2_Missense_Mutation_p.R152T|ZNF382_ENST00000423582.1_Missense_Mutation_p.R103T|ZNF382_ENST00000439428.1_Missense_Mutation_p.R151T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	152	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTAGTCATTAGAAATATAAGC	0.338000													58	112					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94834175	94834175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:94834175C>G	ENST00000371531.1	+	2	471	c.93C>G	c.(91-93)atC>atG	p.I31M	CYP26A1_ENST00000224356.4_Missense_Mutation_p.I100M|CYP26A1_ENST00000394139.1_Missense_Mutation_p.I31M	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	100					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TGCGGCGCATCTTGCTCGGAG	0.622000													16	314					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357784	58357784	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:58357784G>A	ENST00000249750.4	-	1	832	c.65C>T	c.(64-66)tCg>tTg	p.S22L	ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.S22L|ALDH1A2_ENST00000558231.1_Intron|CTD-2330J20.2_ENST00000559684.1_RNA	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	22					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GAGGTGCAGCGACGCCATGAG	0.662000													33	12					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106069397	106069397	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:106069397T>C	ENST00000357242.5	+	6	1139	c.965T>C	c.(964-966)aTc>aCc	p.I322T	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.I322T|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.I322T|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.I322T	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	322	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAATGTGCATCTCAGAAAAT	0.378000													10	51					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33170070	33170070	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:33170070G>C	ENST00000374677.3	+	4	1038	c.665G>C	c.(664-666)tGg>tCg	p.W222S	SLC39A7_ENST00000374675.3_Missense_Mutation_p.W222S|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	222						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGGGACTGTGGGTTCTCAGT	0.522000													41	67					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237965174	237965174	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:237965174G>A	ENST00000366574.2	+	98	14426	c.14109G>A	c.(14107-14109)gtG>gtA	p.V4703V	RYR2_ENST00000360064.6_Silent_p.V4709V|RYR2_ENST00000542537.1_Silent_p.V4687V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4703					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTGATGTGAAGTATCAGA	0.403000													14	18					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648531	130648531	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:130648531A>T	ENST00000539839.1	+	1	1528	c.946A>T	c.(946-948)Agc>Tgc	p.S316C	FZD10_ENST00000229030.4_Missense_Mutation_p.E348D	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					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)		AGGCCATCGAAGCCAACAGCA	0.657000													19	49					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136736892	136736892	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:136736892C>A	ENST00000264161.4	-	3	384	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	DARS_ENST00000463008.1_5'UTR|DARS_ENST00000537273.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	57					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACAACTTCATCAGCTTTTTGT	0.323000													48	123					9.90819e-18	1.08518e-17	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837211	82837211	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:82837211G>C	ENST00000265077.3	+	8	8954	c.8389G>C	c.(8389-8391)Gat>Cat	p.D2797H	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D1810H|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2797	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAGGTGCCTGATGTGATGGA	0.443000													46	34					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213115	26213115	+	Silent	SNP	C	C	T	rs143709838		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:26213115C>T	ENST00000379034.1	+	2	1301	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	384	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACACCAGTCCCGGTTTATACC	0.507000													77	23					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179090	100179090	+	Splice_Site	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr11:100179090G>T	ENST00000524871.1	+	21	2910		c.e21-1		CNTN5_ENST00000418526.2_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site|CNTN5_ENST00000524560.1_Splice_Site|CNTN5_ENST00000279463.3_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTCATACAGAACCCAGTGC	0.398000													9	27					0.000274275	0.000282462	1	1	0
CLYBL	171425	broad.mit.edu	37	13	100543616	100543616	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr13:100543616G>T	ENST00000376355.3	+	7	901	c.870G>T	c.(868-870)ctG>ctT	p.L290L	CLYBL_ENST00000376354.1_Silent_p.L290L|CLYBL_ENST00000339105.4_Silent_p.L324L|CLYBL_ENST00000376360.1_Silent_p.L324L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	324					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCATTACTGAAGCAGGCCC	0.438000													24	111					2.52088e-20	2.80549e-20	1	1	0
ADNP	23394	broad.mit.edu	37	20	49508950	49508950	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr20:49508950C>A	ENST00000396029.3	-	5	2868	c.2301G>T	c.(2299-2301)agG>agT	p.R767S	ADNP_ENST00000396032.3_Missense_Mutation_p.R767S|ADNP_ENST00000371602.4_Missense_Mutation_p.R767S|ADNP_ENST00000349014.3_Missense_Mutation_p.R767S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	767						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GAAAGCTTTTCCTGGCTTCAT	0.428000													25	65					2.44723e-14	2.65224e-14	1	1	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350441	51350441	+	Silent	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:51350441C>G	ENST00000327536.5	-	3	615	c.516G>C	c.(514-516)gtG>gtC	p.V172V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	172										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTTTGATCGCCACCTTGATTA	0.478000													52	42					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502667	12502667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:12502667C>T	ENST00000419318.1	-	4	1198	c.449G>A	c.(448-450)gGa>gAa	p.G150E	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.G182E			Q96GE5	ZN799_HUMAN	zinc finger protein 799	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTGAAGGTTTCCCAAAGAACT	0.413000													47	31					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21143957	21143957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:21143957C>G	ENST00000602326.1	-	32	4876	c.4293G>C	c.(4291-4293)gaG>gaC	p.E1431D	EIF4G3_ENST00000537738.1_Missense_Mutation_p.E915D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1425D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1431D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E1425D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E1145D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E1029D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1425	W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCTTATACAGCTCTTCGGCAG	0.413000													21	46					0	0	1	0	0
OXNAD1	92106	broad.mit.edu	37	3	16313191	16313191	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:16313191G>A	ENST00000285083.5	+	4	610	c.145G>A	c.(145-147)Gat>Aat	p.D49N	OXNAD1_ENST00000544043.1_Missense_Mutation_p.D67N|OXNAD1_ENST00000605932.1_Missense_Mutation_p.D49N|OXNAD1_ENST00000435829.2_Missense_Mutation_p.D67N|OXNAD1_ENST00000606098.1_Missense_Mutation_p.D49N	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	49							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						AAGGAAAACTGATCACATGGA	0.333000													25	104					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169926	20169926	+	RNA	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:20169926C>A	ENST00000338912.5	-	0	345																											GTGTCTCTCACACAGTAATAC	0.522000													41	201					2.00842e-17	2.18812e-17	1	1	0
OR4K13	390433	broad.mit.edu	37	14	20502477	20502477	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:20502477G>A	ENST00000315693.2	-	1	442	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCATAGGAGGATAACAGTA	0.468000													12	115					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88317502	88317502	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:88317502C>T	ENST00000392844.3	+	6	587	c.539C>T	c.(538-540)tCa>tTa	p.S180L	ORC3_ENST00000546266.1_Missense_Mutation_p.S37L|ORC3_ENST00000257789.4_Missense_Mutation_p.S180L|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.S127L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	180					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						ACACATTATTCAATGGATTCA	0.378000													25	18					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274330	103274330	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:103274330C>T	ENST00000233969.2	+	2	739	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	199						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CATTCGGCCTCAGCGACATCA	0.488000													115	186					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639119	7639119	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:7639119C>G	ENST00000359156.4	-	10	2636	c.2434G>C	c.(2434-2436)Gag>Cag	p.E812Q	CD163_ENST00000541972.1_Missense_Mutation_p.E800Q|CD163_ENST00000396620.3_Missense_Mutation_p.E845Q|CD163_ENST00000432237.2_Missense_Mutation_p.E812Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	812	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCGCATCCTCCTTGTGCCTG	0.473000													5	148					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101925	81101925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:81101925C>T	ENST00000228641.3	+	1	649	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	143	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTATATTGAGCGGCTGCAGGA	0.592000													34	48					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641396	123641396	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:123641396C>T	ENST00000606320.1	-	24	3716	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	MPHOSPH9_ENST00000392425.3_Silent_p.T1018T|MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000541076.2_Silent_p.T1140T			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1018					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATTTCTTTAGCGTCATGCGAA	0.353000													4	65					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905112	50905112	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:50905112G>A	ENST00000440232.2	+	4	447	c.394G>A	c.(394-396)Gat>Aat	p.D132N	POLD1_ENST00000599857.1_Missense_Mutation_p.D132N|POLD1_ENST00000595904.1_Missense_Mutation_p.D132N	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	132					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGGGTCACCGATGAGGGGTT	0.692000								DNA polymerases (catalytic subunits)					41	73					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49148881	49148881	+	Silent	SNP	A	A	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:49148881A>C	ENST00000084798.4	-	1	688	c.9T>G	c.(7-9)gcT>gcG	p.A3A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	3						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GACGAGCTGCAGCCCCCATCC	0.711000													5	11					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	841892	841892	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr9:841892C>G	ENST00000382276.3	+	1	203	c.54C>G	c.(52-54)caC>caG	p.H18Q		NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	18					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AAGCCCCTCACGCCCCCGGGG	0.711000													8	9					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390197	89390197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:89390197G>A	ENST00000336596.2	+	4	1171	c.946G>A	c.(946-948)Gac>Aac	p.D316N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D316N|EPHA3_ENST00000452448.2_Missense_Mutation_p.D316N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	316	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCAGACAAAGACCCTCCATC	0.443000										TSP Lung(6;0.00050)			61	137					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582112	51582112	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:51582112A>G	ENST00000391802.1	-	6	829	c.611T>C	c.(610-612)gTc>gCc	p.V204A	KLK14_ENST00000156499.2_Missense_Mutation_p.V204A	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	204	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TCCTGCACAGACCATGCCAGG	0.562000													17	366					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906262	96906262	+	RNA	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:96906262G>A	ENST00000446816.1	+	0	645																											TCGCCAGTGAGAACACACATT	0.562000													33	63					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423127	44423127	+	Silent	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:44423127C>G	ENST00000372343.3	+	7	2108	c.1446C>G	c.(1444-1446)gtC>gtG	p.V482V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	482					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCATTGACGTCAACTATTCTG	0.562000													43	96					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131973826	131973826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:131973826G>C	ENST00000378823.3	+	23	3930	c.3112G>C	c.(3112-3114)Gat>Cat	p.D1038H	AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.D1177H|AC004041.2_ENST00000417516.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1177			R -> G (in dbSNP:rs1047387).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCAGCTTCTGATAAAAGGCG	0.438000								Homologous recombination					38	19					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136974	40136974	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr11:40136974A>C	ENST00000278198.2	-	2	2832	c.869T>G	c.(868-870)tTg>tGg	p.L290W	LRRC4C_ENST00000530763.1_Missense_Mutation_p.L290W|LRRC4C_ENST00000527150.1_Missense_Mutation_p.L290W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L290W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	290					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAGATGATGCAAGGGAGTGAA	0.463000													54	98					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61562699	61562699	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:61562699A>G	ENST00000577647.1	+	2	347	c.302A>G	c.(301-303)aAc>aGc	p.N101S	ACE_ENST00000490216.2_Missense_Mutation_p.N101S|ACE_ENST00000413513.3_Missense_Mutation_p.N101S|ACE_ENST00000290866.4_Missense_Mutation_p.N675S|ACE_ENST00000428043.1_Missense_Mutation_p.N675S|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000290863.6_Missense_Mutation_p.N101S			P12821	ACE_HUMAN	angiotensin I converting enzyme	675	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGGAACTACAACACCAACATC	0.557000													4	52					0	0	1	0	0
HIST1H4A	8359	broad.mit.edu	37	6	26022123	26022123	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:26022123T>C	ENST00000359907.3	+	1	217	c.217T>C	c.(217-219)Tat>Cat	p.Y73H		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|skin(1)	2						CGCTGTCACCTATACGGAGCA	0.587000													29	51					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090976	32090976	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:32090976C>T	ENST00000438447.1	+	20	7810	c.7422C>T	c.(7420-7422)ccC>ccT	p.P2474P	PDZD2_ENST00000282493.3_Silent_p.P2474P			O15018	PDZD2_HUMAN	PDZ domain containing 2	2474					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACACGCAGCCCTCGCCCGTGT	0.582000													70	59					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102713545	102713545	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr9:102713545G>A	ENST00000259400.6	+	4	529	c.393G>A	c.(391-393)ttG>ttA	p.L131L	STX17_ENST00000525640.1_Silent_p.L131L|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.L131L	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	131					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGCCTCCTTTGACCAGATCCA	0.388000													21	15					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414472	26414472	+	Silent	SNP	T	T	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:26414472T>C	ENST00000265944.5	+	19	2215	c.2049T>C	c.(2047-2049)taT>taC	p.Y683Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	683	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACTTTATATGGACGTCTCT	0.378000													54	90					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642680	39642680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:39642680C>T	ENST00000393986.2	-	8	1414	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	KRT36_ENST00000328119.6_Missense_Mutation_p.R451K			O76013	KRT36_HUMAN	keratin 36	451	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TTTCCCATCTCTGATCTCCTC	0.647000													23	64					0	0	1	0	0
HAUS7	55559	broad.mit.edu	37	X	152720509	152720509	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:152720509G>A	ENST00000370212.3	-	9	962	c.963C>T	c.(961-963)atC>atT	p.I321I	HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000334497.2_Intron|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370211.4_Intron|TREX2_ENST00000370232.1_Intron|TREX2_ENST00000338525.2_Intron			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	312					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGCCTCTGGGGATCTCACATG	0.512000													27	10					0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34208840	34208840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr20:34208840C>G	ENST00000374273.3	+	12	1322	c.1210C>G	c.(1210-1212)Cta>Gta	p.L404V		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	404	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GATCCAGATTCTAAGCAACTG	0.602000													5	128					0	0	1	0	0
CHP1	11261	broad.mit.edu	37	15	41549162	41549162	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:41549162G>T	ENST00000334660.5	+	3	435	c.195G>T	c.(193-195)cgG>cgT	p.R65R	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Silent_p.R65R	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	65					potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										TGGGGGACCGGATCATCAATG	0.463000													25	21					1.5548e-18	1.71193e-18	1	1	0
FRAT1	10023	broad.mit.edu	37	10	99079918	99079918	+	Silent	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:99079918C>A	ENST00000371021.3	+	1	897	c.708C>A	c.(706-708)ctC>ctA	p.L236L		NM_005479.3	NP_005470.2	Q92837	FRAT1_HUMAN	frequently rearranged in advanced T-cell lymphomas	236					Wnt receptor signaling pathway	cytoplasm				prostate(1)	1		Colorectal(252;0.0846)		Epithelial(162;2.76e-09)|all cancers(201;1.57e-07)		AACGCCCGCTCCTGGGACCTC	0.662000													7	23					0.00621372	0.00630509	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43319450	43319450	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr21:43319450C>T	ENST00000380486.3	-	13	1823	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	C2CD2_ENST00000329623.7_Missense_Mutation_p.D373N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	528						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						AGGGCAGCGTCGTGGTCCTGA	0.602000													26	39					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118937615	118937615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:118937615G>A	ENST00000467604.1	-	6	1070	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.R227C|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.R227C|B4GALT4_ENST00000393765.2_Missense_Mutation_p.R227C			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	227					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CCACTGTAACGTAACCTGGAG	0.468000													78	70					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48166553	48166553	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:48166553A>G	ENST00000007722.7	+	25	3125	c.3125A>G	c.(3124-3126)tAc>tGc	p.Y1042C	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1039					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGGAGCGCTACCCACCTCCA	0.597000													4	163					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39802161	39802161	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr20:39802161G>C	ENST00000373272.2	+	28	3786	c.3381G>C	c.(3379-3381)aaG>aaC	p.K1127N	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.K1127N|PLCG1_ENST00000244007.3_Missense_Mutation_p.K1127N	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1127	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCAAGCAGAAGACAGAGTTTG	0.572000											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	27					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266608	45266608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:45266608C>T	ENST00000372201.4	+	2	546	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	103	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAAGCCGCATCAGCGCGAGAA	0.672000													19	28					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632304	205632304	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:205632304G>A	ENST00000367145.3	-	3	910	c.615C>T	c.(613-615)ctC>ctT	p.L205L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	205					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TGAGGAAGATGAGGGTGAGCA	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								18	19					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28950000	28950000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:28950000C>A	ENST00000538922.1	+	13	1555	c.1493C>A	c.(1492-1494)tCc>tAc	p.S498Y	CD19_ENST00000324662.3_Missense_Mutation_p.S497Y|CD19_ENST00000567541.1_Missense_Mutation_p.S498Y	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	497					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CAAGCAGGGTCCCAGTCCTAT	0.592000													31	84					6.53348e-20	7.23224e-20	1	1	0
EPC1	80314	broad.mit.edu	37	10	32573776	32573776	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:32573776G>A	ENST00000319778.6	-	10	1896	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	EPC1_ENST00000263062.8_Missense_Mutation_p.R532W|EPC1_ENST00000375110.2_Missense_Mutation_p.R482W	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	532					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GATGGTGTCCGAGGCCTAAAA	0.423000													4	101					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386827	45386827	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:45386827G>T	ENST00000389039.6	-	33	4843	c.4458C>A	c.(4456-4458)tcC>tcA	p.S1486S	DUOX2_ENST00000603300.1_Silent_p.S1486S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1486					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTGGGTGATGGAGCGCAGGC	0.627000													9	7					0.000274275	0.000282462	1	1	0
CLN6	54982	broad.mit.edu	37	15	68504082	68504082	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:68504082G>A	ENST00000249806.5	-	4	574	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CLN6_ENST00000564752.1_Silent_p.F139F|CLN6_ENST00000538696.1_Silent_p.F171F|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	139					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTAGCCACTGAAGAGCAGGC	0.587000													64	158					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26913502	26913502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:26913502G>A	ENST00000321765.5	-	5	1785	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	485					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTAAGATGCTGAAGTTTATTA	0.433000													28	46					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291135	62291135	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:62291135G>T	ENST00000258991.3	-	2	527	c.443C>A	c.(442-444)cCc>cAc	p.P148H	TEX2_ENST00000583097.1_Missense_Mutation_p.P148H|TEX2_ENST00000584379.1_Missense_Mutation_p.P148H			Q8IWB9	TEX2_HUMAN	testis expressed 2	148					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGACACACTGGGAGAGCTAGC	0.542000													53	111					6.56871e-35	7.59622e-35	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26462934	26462934	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:26462934G>A	ENST00000265944.5	+	30	3907	c.3741G>A	c.(3739-3741)gaG>gaA	p.E1247E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1247					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACACAGAGGAGAGGAATTGTG	0.438000													31	69					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473058	105473058	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:105473058G>C	ENST00000361360.2	+	1	1090	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	364	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGCCGCTTCGAGGCCCTGCA	0.632000													36	90					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43735858	43735858	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:43735858T>G	ENST00000405006.4	-	23	3787	c.3436A>C	c.(3436-3438)Att>Ctt	p.I1146L	THADA_ENST00000415080.2_Missense_Mutation_p.I856L|THADA_ENST00000405975.2_Missense_Mutation_p.I1146L|THADA_ENST00000330266.7_Missense_Mutation_p.I856L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1146							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGCATTTAATTTCCTCTAAA	0.403000													21	23					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42974302	42974302	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:42974302C>T	ENST00000485511.1	+	3	386	c.207C>T	c.(205-207)ctC>ctT	p.L69L	PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000394110.3_Silent_p.L69L|PPP2R5D_ENST00000472118.1_Silent_p.L61L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	69					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCACGCAGCTCAGCAAAATCA	0.637000													59	128					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127953005	127953005	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:127953005C>G	ENST00000335247.7	-	5	755	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.E209Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	209						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTCACAATCTCCCGGTACACC	0.532000													27	42					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236918402	236918402	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:236918402C>G	ENST00000366578.4	+	17	2224	c.2058C>G	c.(2056-2058)atC>atG	p.I686M	ACTN2_ENST00000546208.1_Missense_Mutation_p.I180M|ACTN2_ENST00000542672.1_Missense_Mutation_p.I686M	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	686					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACAACATCATCAACTATAAGA	0.527000													10	262					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39125506	39125506	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:39125506G>A	ENST00000518318.2	+	2	107	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	POU6F2_ENST00000403058.1_Missense_Mutation_p.R22Q|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.R14Q|POU6F2_ENST00000464276.2_Missense_Mutation_p.R14Q			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	22					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGTCAGTGCGGAGTGAAATG	0.502000													18	7					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193042721	193042721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:193042721G>C	ENST00000342358.4	-	14	1723	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	536					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGAAGGATCAGAGAGTGGCAG	0.542000													7	240					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8998700	8998700	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:8998700T>G	ENST00000299698.7	+	14	1745	c.1565T>G	c.(1564-1566)cTg>cGg	p.L522R	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.L31R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	366						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCTCTCACTGACCTTCACT	0.468000													46	89					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1278891	1278891	+	Silent	SNP	G	G	A	rs147261325		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:1278891G>A	ENST00000310581.5	-	6	2208	c.2151C>T	c.(2149-2151)taC>taT	p.Y717Y	TERT_ENST00000508104.2_Silent_p.Y717Y|TERT_ENST00000334602.6_Silent_p.Y717Y|TERT_ENST00000296820.5_Silent_p.Y717Y	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	717	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGATGGTGTCGTACGCGCCCG	0.627000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	321					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620323	89620323	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:89620323C>T	ENST00000268704.2	+	15	2073	c.2058C>T	c.(2056-2058)atC>atT	p.I686I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	686					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCATGGGCATCGGGCGGCGCC	0.667000													48	97					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69676054	69676054	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:69676054T>G	ENST00000212015.6	+	9	2001	c.1948T>G	c.(1948-1950)Tac>Gac	p.Y650D	SIRT1_ENST00000403579.1_Missense_Mutation_p.Y347D|SIRT1_ENST00000432464.1_Missense_Mutation_p.Y355D|SIRT1_ENST00000406900.1_Missense_Mutation_p.Y347D	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	650					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCAAATCGTTACATTTTCCA	0.398000													7	75					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3104056	3104056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:3104056G>A	ENST00000359864.2	+	3	314	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.V42M	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	42					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CGCAGAGGGCGTGTGGAGCCC	0.622000													75	191					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31376124	31376124	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:31376124T>G	ENST00000355683.5	-	12	1810	c.1595A>C	c.(1594-1596)cAa>cCa	p.Q532P	STRN3_ENST00000357479.5_Missense_Mutation_p.Q616P	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	616					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CAATTTTTCTTGTGGATTCCA	0.323000													29	19					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P738S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCCAGTATGCCAACCTCAAC	0.502000													5	469					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27492457	27492457	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:27492457G>A	ENST00000356183.4	-	27	4154	c.4139C>T	c.(4138-4140)tCa>tTa	p.S1380L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1380L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1380						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTTAGGGCTGAACTGAACTT	0.468000													35	72					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748153	143748153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:143748153G>A	ENST00000408906.2	+	1	693	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACTCGCGCATCCTGGCG	0.607000													5	198					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158445	26158445	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:26158445G>A	ENST00000289316.2	+	1	72	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BD_ENST00000377777.4_Silent_p.K16K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	16					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGGGCTCCAAGAAGGCGGTGA	0.507000													55	107					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99247741	99247741	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:99247741G>C	ENST00000343703.5	-	13	1724	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	CYP3A5_ENST00000222982.4_Missense_Mutation_p.I456M|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GAAGGACTCTGATTAGAGCAA	0.378000													31	70					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905427	33905427	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:33905427G>A	ENST00000389232.4	+	19	2278	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L	RYR3_ENST00000415757.3_Silent_p.L736L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	736	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCACCTCCTGAGATCGGATG	0.582000													15	12					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804532	54804532	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:54804532C>G	ENST00000306858.7	+	5	879	c.763C>G	c.(763-765)Ctc>Gtc	p.L255V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	255										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAGCTCACCTCAGCATGGT	0.328000													25	36					0	0	1	0	0
PHAX	51808	broad.mit.edu	37	5	125952986	125952986	+	Silent	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:125952986C>G	ENST00000297540.4	+	4	1571	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	292	Necessary for interaction with CBP80 (By similarity).|Sufficient for poly U RNA-binding.				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TTCTGAATCTCTTGAAAAACA	0.388000													7	5					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550235	80550235	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:80550235C>T	ENST00000424301.2	+	5	610	c.372C>T	c.(370-372)gaC>gaT	p.D124D	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.D124D|CKMT2_ENST00000437669.1_Silent_p.D124D|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	124	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACCTTTTTGACCCCGTCATCA	0.493000													40	32					0	0	1	0	0
DCTPP1	79077	broad.mit.edu	37	16	30435775	30435775	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:30435775C>G	ENST00000319285.4	-	3	386	c.292G>C	c.(292-294)Gac>Cac	p.D98H	ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000568973.1_5'UTR|DCTPP1_ENST00000565758.1_5'UTR|DCTPP1_ENST00000567983.1_Intron|DCTPP1_ENST00000568434.1_5'UTR	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	98					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						ATGAGGACGTCACTAAGCTCC	0.607000													20	44					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252791	185252791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:185252791G>T	ENST00000296252.4	-	2	320	c.179C>A	c.(178-180)tCa>tAa	p.S60*	LIPH_ENST00000424591.2_Nonsense_Mutation_p.S60*	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	60					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCCAAAAGCTGAGGAGTTGAT	0.483000													94	130					6.51614e-51	7.57776e-51	1	1	0
TEX13B	56156	broad.mit.edu	37	X	107224421	107224421	+	Silent	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:107224421G>A	ENST00000302917.1	-	3	920	c.828C>T	c.(826-828)ctC>ctT	p.L276L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	276										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCATGGGTATGAGTATGTGAA	0.527000													92	28					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86346056	86346056	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr2:86346056G>C	ENST00000254630.7	+	7	493	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Intron	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	143						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TTTAATGCCTGAGTACTTTGA	0.403000													28	55					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742507	98742507	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr10:98742507A>C	ENST00000286067.2	+	1	1467	c.1360A>C	c.(1360-1362)Agt>Cgt	p.S454R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	454										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AACTGAGGAAAGTGAGGCAGC	0.463000													110	156					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98558965	98558965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:98558965C>G	ENST00000359863.4	+	45	6759	c.6550C>G	c.(6550-6552)Cca>Gca	p.P2184A	TRRAP_ENST00000446306.3_Missense_Mutation_p.P2165A|TRRAP_ENST00000355540.3_Missense_Mutation_p.P2166A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2184	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCAGTCCCCAGCCATCCT	0.547000													50	87					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9487367	9487367	+	Silent	SNP	A	A	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:9487367A>G	ENST00000402466.1	+	14	1941	c.1173A>G	c.(1171-1173)ccA>ccG	p.P391P	SETD5_ENST00000402198.1_Silent_p.P489P|SETD5_ENST00000302463.6_Silent_p.P391P|SETD5_ENST00000407969.1_Silent_p.P508P|SETD5_ENST00000406341.1_Silent_p.P489P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	489	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAGAAAAACCAGAAGAAGAGA	0.398000													14	187					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31678559	31678559	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr20:31678559C>A	ENST00000375483.3	+	8	1097	c.1097C>A	c.(1096-1098)tCc>tAc	p.S366Y		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	366						cytoplasm|extracellular region	lipid binding										TACACCTTCTCCAGCCTCCCG	0.602000													45	46					8.04919e-23	9.05534e-23	1	1	0
TRIM13	10206	broad.mit.edu	37	13	50586671	50586671	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr13:50586671G>A	ENST00000378182.3	+	2	1333	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	TRIM13_ENST00000420995.2_Missense_Mutation_p.E199K|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.E202K|TRIM13_ENST00000457662.2_Missense_Mutation_p.E199K|TRIM13_ENST00000356017.4_Missense_Mutation_p.E202K	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	199					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AAAGAAGAATGAAATTCTGTC	0.388000													15	24					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102221618	102221618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr11:102221618G>C	ENST00000227758.2	+	3	2338	c.939G>C	c.(937-939)ttG>ttC	p.L313F	BIRC2_ENST00000532672.1_Missense_Mutation_p.L292F|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.L264F	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	313					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGGTGGCTTGAGGTGTTGGG	0.353000													11	250					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057647	27057647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:27057647C>G	ENST00000324856.7	+	3	1726	c.1355C>G	c.(1354-1356)cCt>cGt	p.P452R	ARID1A_ENST00000457599.2_Missense_Mutation_p.P452R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P69R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	452					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACAGATTCCTCCTTATGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								91	181					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51447041	51447041	+	Splice_Site	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:51447041C>T	ENST00000336334.3	-	6	1080	c.728G>A	c.(727-729)gGt>gAt	p.G243D	KLK5_ENST00000391809.2_Splice_Site_p.G243D|KLK5_ENST00000593428.1_Splice_Site_p.G243D	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	243	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CCCAGAATCACCCTGCAGgag	0.597000													14	36					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597450	597450	+	Silent	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr16:597450C>T	ENST00000219611.2	+	4	975	c.612C>T	c.(610-612)ctC>ctT	p.L204L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACCTGGCCTCCCCGGGGAAG	0.741000													9	8					0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127031557	127031557	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr7:127031557C>T	ENST00000393313.1	-	2	646	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ZNF800_ENST00000393312.1_Missense_Mutation_p.E19K|ZNF800_ENST00000265827.3_Missense_Mutation_p.E19K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTACCTGGTTCACAGCATCCG	0.483000													20	41					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6748658	6748658	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr5:6748658C>T	ENST00000230859.6	+	8	920	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	264					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCAGCCATGCTGTGTCACCG	0.552000													6	448					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117791727	117791727	+	Silent	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr9:117791727C>G	ENST00000350763.4	-	25	6492	c.6081G>C	c.(6079-6081)ctG>ctC	p.L2027L	TNC_ENST00000341037.4_Silent_p.L1845L|TNC_ENST00000346706.3_Silent_p.L1481L|TNC_ENST00000340094.3_Silent_p.L1663L|TNC_ENST00000423613.2_Silent_p.L1754L|TNC_ENST00000542877.1_Silent_p.L1664L|TNC_ENST00000535648.1_Silent_p.L1572L|TNC_ENST00000537320.1_Silent_p.L1390L|TNC_ENST00000345230.3_Silent_p.L1390L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2027	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTTGCGTCTCAGGAACACCT	0.488000													56	28					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32893373	32893373	+	Nonsense_Mutation	SNP	C	C	G	rs80358498		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr13:32893373C>G	ENST00000544455.1	+	3	454	c.227C>G	c.(226-228)tCa>tGa	p.S76*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.S76*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	76					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGCTGGCTTCAACTCCAATA	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			24	65					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129149758	129149758	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:129149758C>G	ENST00000540052.1	+	3	3054	c.3010C>G	c.(3010-3012)Cct>Gct	p.P1004A	BCORL1_ENST00000359304.2_Missense_Mutation_p.P1004A|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1004A|BCORL1_ENST00000218147.7_Missense_Mutation_p.P1004A	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1004					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCAGAACCTGCCTAAGATGCC	0.597000													36	31					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158850822	158850822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr6:158850822G>A	ENST00000367097.3	+	3	1793	c.436G>A	c.(436-438)Gat>Aat	p.D146N	TULP4_ENST00000367094.2_Missense_Mutation_p.D146N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	146					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTCCTATCGAGATGGGTTTGT	0.448000													56	44					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057727	27057727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:27057727C>T	ENST00000324856.7	+	3	1806	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q479*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q96*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	479	Poly-Gln.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q479*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCACCCTCAGCAGCAGCA	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								138	288					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925772	66925772	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr17:66925772G>C	ENST00000269080.2	-	7	1006	c.869C>G	c.(868-870)tCt>tGt	p.S290C	ABCA8_ENST00000586539.1_Missense_Mutation_p.S290C|ABCA8_ENST00000430352.2_Missense_Mutation_p.S290C	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	290						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAACTGGGTAGATCTTATAAC	0.378000													38	45					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386791	45386791	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:45386791G>C	ENST00000389039.6	-	33	4879	c.4494C>G	c.(4492-4494)ttC>ttG	p.F1498L	DUOX2_ENST00000603300.1_Missense_Mutation_p.F1498L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1498					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGAGTTGAAGAAGGGCTCGA	0.627000													8	9					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18971668	18971668	+	Silent	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:18971668G>T	ENST00000262803.5	+	17	2606	c.2334G>T	c.(2332-2334)acG>acT	p.T778T	UPF1_ENST00000599848.1_Silent_p.T789T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	789					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGATCACCACGAAGTTGCTGA	0.627000													5	22					0.014758	0.014902	1	1	0
BRPF1	7862	broad.mit.edu	37	3	9787327	9787327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:9787327G>A	ENST00000383829.2	+	11	3543	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K	BRPF1_ENST00000424362.1_Missense_Mutation_p.E1040K|BRPF1_ENST00000433861.2_Missense_Mutation_p.E946K|BRPF1_ENST00000302054.3_Missense_Mutation_p.E1041K|BRPF1_ENST00000457855.1_Missense_Mutation_p.E1041K	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1041	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGACAGCAGTGAGGATACCTC	0.612000													25	192					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967254	21967254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:21967254C>T	ENST00000298717.4	-	10	1697	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	516					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCATAGATTTCATCTGGTTTA	0.398000													30	13					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000944	17000944	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr19:17000944G>T	ENST00000248076.3	+	2	1000	c.670G>T	c.(670-672)Gat>Tat	p.D224Y		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	224					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCGCGCTCCGATCGCGTGCT	0.701000													5	14					0.0215528	0.0216574	1	1	0
OXNAD1	92106	broad.mit.edu	37	3	16312480	16312480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:16312480G>A	ENST00000285083.5	+	3	486	c.21G>A	c.(19-21)atG>atA	p.M7I	OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25I|OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7I|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25I|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7I	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	7							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CTGCTGTTATGATTCCTGGGT	0.458000													57	172					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22190636	22190636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr1:22190636delT	ENST00000374695.3	-	37	4776	c.4697delA	c.(4696-4698)aatfs	p.N1566fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1566	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGAGTGGCCATTGCATTCACA	0.662													2	4	---	---	---	---					
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562		TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.380													7	103	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100452908	100452908	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr12:100452908delA	ENST00000279907.7	-	14	2359	c.2147delT	c.(2146-2148)atafs	p.I716fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Del_p.I366fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	716										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TACAAAACTTATTGGCCGTCC	0.398													27	49	---	---	---	---					
TMEM260	54916	broad.mit.edu	37	14	57082727	57082728	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr14:57082727_57082728delAT	ENST00000261556.6	+	8	1045_1046	c.923_924delAT	c.(922-924)aatfs	p.N308fs	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Frame_Shift_Del_p.N308fs	NM_017799.3	NP_060269.3			transmembrane protein 260																		GTTTGTGCAAATATATGTTTAG	0.327													28	23	---	---	---	---					
LOC101926911	101926911	broad.mit.edu	37	15	91576343	91576343	+	RNA	DEL	T	T	-			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chr15:91576343delT	ENST00000557804.1	+	0	465																											CGGCCACTGCTTTGCCCTGAG	0.622													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44942789	44942790	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-DK-A6B5-01A-11D-A31L-08	TCGA-DK-A6B5-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32a0e95e-6736-444c-9811-040e6385057d	ededa90c-8953-42c7-b96c-1c9295a86248	g.chrX:44942789_44942790insTA	ENST00000377967.4	+	23	3410_3411	c.3369_3370insTA	c.(3370-3372)catfs	p.H1124fs	KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.H1079fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.H1131fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.H1045fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1124	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCCATGTTGGTCATACCATATT	0.396			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	10	---	---	---	---