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
TFAP2E	339488	broad.mit.edu	37	1	36054078	36054078	+	Missense_Mutation	SNP	C	C	T	rs138290823		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:36054078C>T	ENST00000373235.3	+	4	918	c.710C>T	c.(709-711)aCg>aTg	p.T237M		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	237						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TACAAGGTGACGGTGGGGGAG	0.642													8	79	---	---	---	---
ADORA3	140	broad.mit.edu	37	1	112042982	112042982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:112042982G>A	ENST00000241356.4	-	2	952	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	183					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATCCAGGTGAGGAAGCTGAAG	0.423													32	79	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145532146	145532146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:145532146C>T	ENST00000369304.3	+	8	965	c.790C>T	c.(790-792)Cga>Tga	p.R264*	ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R133*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R121*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	264	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCATGGGGGCCGACCCGAGGC	0.547													10	64	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151249	158151249	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:158151249G>A	ENST00000368171.3	+	3	565	c.66G>A	c.(64-66)ccG>ccA	p.P22P		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	22					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCCCAGTCCCGCAAAGGCTTT	0.587													4	270	---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182355539	182355539	+	Splice_Site	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:182355539T>C	ENST00000311223.5	-	5	1225		c.e5-2		GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000339526.4_Splice_Site|GLUL_ENST00000331872.6_Splice_Site|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	AATTGGTCTCTAGAAAAAAGA	0.463													22	90	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208218421	208218421	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr1:208218421G>C	ENST00000367033.3	-	19	4387	c.3630C>G	c.(3628-3630)caC>caG	p.H1210Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1210	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCATGACCTTGTGCTGCCCGG	0.567													12	30	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121417402	121417402	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:121417402T>G	ENST00000393667.3	-	13	2078	c.1968A>C	c.(1966-1968)gaA>gaC	p.E656D	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E651D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	651					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAAAGATATTTCCTCAGATG	0.408													22	79	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294719	184294719	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr3:184294719C>T	ENST00000330394.2	+	5	1554	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	368	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCTGGGTGGCCGGGATGACCT	0.587													4	122	---	---	---	---
SH3BP2	6452	broad.mit.edu	37	4	2822436	2822436	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:2822436G>C	ENST00000356331.5	+	2	353	c.92G>C	c.(91-93)gGc>gCc	p.G31A	SH3BP2_ENST00000389838.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G59A|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G31A|SH3BP2_ENST00000503393.2_Missense_Mutation_p.G88A|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G31A	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	31	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCCAAGGCTGGCTACCTGCAC	0.617									Cherubism				5	47	---	---	---	---
NIPAL1	152519	broad.mit.edu	37	4	48027157	48027157	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr4:48027157T>A	ENST00000295461.5	+	2	185	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	40						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCACAGCTGCTGGCTTCTCCT	0.438													8	69	---	---	---	---
C5orf51	285636	broad.mit.edu	37	5	41909968	41909968	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:41909968G>C	ENST00000381647.2	+	3	347	c.328G>C	c.(328-330)Gta>Cta	p.V110L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	110										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAAATTTTAGTAAAGGAAAA	0.323													3	50	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202850	140202850	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202850G>A	ENST00000529859.1	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R497Q|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R497Q	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGCGGCGGGTGGGCGAG	0.672													6	80	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202971	140202971	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr5:140202971C>T	ENST00000529859.1	+	1	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R537R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R537R	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.682													4	122	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64422100	64422100	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:64422100A>G	ENST00000262043.3	+	16	4956	c.4616A>G	c.(4615-4617)gAa>gGa	p.E1539G	PHF3_ENST00000393387.1_Missense_Mutation_p.E1539G			Q92576	PHF3_HUMAN	PHD finger protein 3	1539					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTCAGCAGAAATAGAAACA	0.363													14	64	---	---	---	---
PGM3	5238	broad.mit.edu	37	6	83900533	83900533	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:83900533G>A	ENST00000513973.1	-	2	315	c.199C>T	c.(199-201)Cct>Tct	p.P67S	PGM3_ENST00000506587.1_Missense_Mutation_p.P95S|PGM3_ENST00000283977.4_Intron|PGM3_ENST00000512866.1_Missense_Mutation_p.P67S	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	67					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATTACCTCAGGATTGTGGGAC	0.403													6	42	---	---	---	---
TAGAP	117289	broad.mit.edu	37	6	159463110	159463110	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr6:159463110C>G	ENST00000367066.3	-	5	646	c.315G>C	c.(313-315)caG>caC	p.Q105H	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Splice_Site_p.Q105H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	105	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCACGCCTACCTGGATGGGTC	0.443													4	141	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82451834	82451834	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:82451834A>T	ENST00000333891.9	-	20	15105	c.14768T>A	c.(14767-14769)gTg>gAg	p.V4923E	PCLO_ENST00000423517.2_Missense_Mutation_p.V4923E|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTTGTTGCACGGCAGCTTC	0.507													4	148	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150704213	150704213	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:150704213C>T	ENST00000297494.3	+	17	2318	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	NOS3_ENST00000461406.1_Missense_Mutation_p.S448F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	654	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGGCTCGGCTCCCGGGCATAC	0.687													5	177	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151836271	151836271	+	Splice_Site	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr7:151836271C>G	ENST00000355193.2	-	58	14923	c.14705G>C	c.(14704-14706)aGg>aCg	p.R4902T	KMT2C_ENST00000262189.6_Splice_Site_p.R4845T|KMT2C_ENST00000485655.2_Splice_Site_p.R50T					lysine (K)-specific methyltransferase 2C																		GCTGTCTCACCTTGCGGGCCC	0.567													11	48	---	---	---	---
RRAGA	10670	broad.mit.edu	37	9	19050073	19050073	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:19050073T>A	ENST00000380527.1	+	1	702	c.416T>A	c.(415-417)cTg>cAg	p.L139Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	139					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CAGCGTGACCTGATTTTTAAA	0.532													7	31	---	---	---	---
IFNA17	3451	broad.mit.edu	37	9	21227906	21227906	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:21227906A>T	ENST00000413767.2	-	1	315	c.267T>A	c.(265-267)aaT>aaA	p.N89K		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	89					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGCTGAAGAGATTGAAGGTCT	0.478													12	87	---	---	---	---
ST6GALNAC4	27090	broad.mit.edu	37	9	130670786	130670786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr9:130670786G>A	ENST00000335791.5	-	6	1069	c.794C>T	c.(793-795)gCa>gTa	p.A265V	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.A181V|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	265					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGCTCGTGTGCCAGGTACAT	0.637													4	62	---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35305223	35305223	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:35305223C>G	ENST00000374748.1	-	19	2097	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	CUL2_ENST00000537177.1_Missense_Mutation_p.S614T|CUL2_ENST00000602371.1_Missense_Mutation_p.S538T|CUL2_ENST00000374746.1_Missense_Mutation_p.S595T|CUL2_ENST00000374742.1_Missense_Mutation_p.S595T|CUL2_ENST00000374751.3_Missense_Mutation_p.S595T|CUL2_ENST00000374749.3_Missense_Mutation_p.S595T			Q13617	CUL2_HUMAN	cullin 2	595					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTCTTTATAACTGACAGTTTC	0.353													22	48	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102050257	102050257	+	Missense_Mutation	SNP	A	A	G	rs143580376		TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr10:102050257A>G	ENST00000318222.3	-	13	2409	c.2027T>C	c.(2026-2028)aTt>aCt	p.I676T	PKD2L1_ENST00000353274.3_Missense_Mutation_p.I676T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.I601T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	676					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TAGTTTCTCAATCTCAGTGTT	0.527													5	28	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7662824	7662824	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:7662824C>G	ENST00000299492.4	+	16	1878	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P339R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P354R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P385R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	497					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAACGGAATCCCAAAGGCATT	0.448													10	91	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62414787	62414787	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:62414787G>A	ENST00000330574.2	-	2	2817	c.2765C>T	c.(2764-2766)cCg>cTg	p.P922L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	922					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACCCAGGGCCGGAGGCAGGAG	0.612													5	138	---	---	---	---
KRTAP5-9	3846	broad.mit.edu	37	11	71260209	71260209	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:71260209T>G	ENST00000528743.2	+	1	744	c.506T>G	c.(505-507)aTc>aGc	p.I169S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	169					epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CAGTGCAAGATCTGAGGCTCT	0.547													35	88	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95595463	95595463	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:95595463A>G	ENST00000393223.3	-	6	776	c.114T>C	c.(112-114)taT>taC	p.Y38Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Silent_p.Y110Y|MTMR2_ENST00000409459.1_Silent_p.Y38Y|MTMR2_ENST00000352297.7_Silent_p.Y38Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	110	Ser-rich.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATATAACCTATAATTCGTGA	0.363													8	35	---	---	---	---
KDELC2	143888	broad.mit.edu	37	11	108357013	108357013	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr11:108357013C>A	ENST00000434945.2	-	2	689	c.387G>T	c.(385-387)agG>agT	p.R129S	KDELC2_ENST00000323468.5_Missense_Mutation_p.R185S|KDELC2_ENST00000375648.1_Missense_Mutation_p.R129S			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	185						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		CATCCCCAAACCTTTTGGGGA	0.418													6	95	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776771	53776771	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:53776771C>A	ENST00000426431.2	+	3	1079	c.1019C>A	c.(1018-1020)tCa>tAa	p.S340*	SP1_ENST00000327443.4_Nonsense_Mutation_p.S347*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	347	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AGTGGATCATCAGGGACCAAC	0.498													3	34	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72372850	72372850	+	Silent	SNP	C	C	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:72372850C>T	ENST00000333850.3	+	7	1065	c.924C>T	c.(922-924)ccC>ccT	p.P308P		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	308					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCTCAGATCCCCTCTACACCC	0.532													10	123	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110618302	110618302	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:110618302A>G	ENST00000242591.5	+	12	1770	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	IFT81_ENST00000552912.1_Missense_Mutation_p.K422E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	422					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGCTGAACTTAAAGCTGAATT	0.328													8	26	---	---	---	---
ACADS	35	broad.mit.edu	37	12	121164962	121164962	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr12:121164962G>A	ENST00000242592.4	+	2	331	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ACADS_ENST00000411593.2_Silent_p.V60V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	60						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CAGCCCAGGTGGATAAGGAAC	0.562													20	121	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52902265	52902265	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:52902265A>C	ENST00000261844.7	-	6	998	c.846T>G	c.(844-846)caT>caG	p.H282Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.H289Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	282																	CACTTTTTGCATGTAACACAC	0.438													10	36	---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92977487	92977487	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr15:92977487G>T	ENST00000268164.3	+	3	409	c.172G>T	c.(172-174)Gta>Tta	p.V58L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V37L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	58					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTGAAGTTGTAATAAACGG	0.438													24	88	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30750172	30750172	+	Silent	SNP	A	A	G			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750172A>G	ENST00000262518.4	+	34	9196	c.8811A>G	c.(8809-8811)agA>agG	p.R2937R	SRCAP_ENST00000344771.4_Silent_p.R2779R|SRCAP_ENST00000395059.2_Silent_p.R2875R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2937	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGAGAAAAGAAGGCGAGGAC	0.592													9	46	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30750173	30750173	+	Silent	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr16:30750173A>C	ENST00000262518.4	+	34	9197	c.8812A>C	c.(8812-8814)Agg>Cgg	p.R2938R	SRCAP_ENST00000344771.4_Silent_p.R2780R|SRCAP_ENST00000395059.2_Silent_p.R2876R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2938	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGAGAAAAGAAGGCGAGGACG	0.587													9	45	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:47696431C>A	ENST00000393331.3	-	7	862	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)			35	101	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56084419	56084419	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr17:56084419A>T	ENST00000582730.2	-	1	203	c.80T>A	c.(79-81)aTc>aAc	p.I27N	SRSF1_ENST00000584773.1_Missense_Mutation_p.I27N|SRSF1_ENST00000585096.1_Missense_Mutation_p.I27N|SRSF1_ENST00000258962.4_Missense_Mutation_p.I27N	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	27	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGGTTCGGATGTCTGGAGG	0.587													5	54	---	---	---	---
C18orf8	29919	broad.mit.edu	37	18	21083629	21083629	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr18:21083629A>C	ENST00000269221.3	+	1	157	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	C18orf8_ENST00000590868.1_Missense_Mutation_p.Q16P	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	16										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGGTGCAGTTCGAGAAG	0.731													4	46	---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58499976	58499976	+	Silent	SNP	G	G	A			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr19:58499976G>A	ENST00000341164.4	-	5	911	c.291C>T	c.(289-291)caC>caT	p.H97H	ZNF606_ENST00000536132.1_Silent_p.H7H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAGAGAGCAGGTGACCATAGG	0.557													36	127	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769705	50769705	+	Silent	SNP	A	A	T			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:50769705A>T	ENST00000216923.4	-	6	1375	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P340P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.P288P|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCACTTCTCAGGATGCTCCG	0.592													20	75	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099166	56099166	+	Silent	SNP	T	T	C			TCGA-KK-A8I9-01A-11D-A364-08	TCGA-KK-A8I9-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bebc84b6-9179-420b-8207-858b999e8c0c	50b1e243-b45a-42a1-8692-b7ae5d51250f	g.chr20:56099166T>C	ENST00000608263.1	-	1	757	c.96A>G	c.(94-96)aaA>aaG	p.K32K	CTCFL_ENST00000608440.1_Silent_p.K32K|CTCFL_ENST00000609232.1_Silent_p.K32K|CTCFL_ENST00000429804.3_Silent_p.K32K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Silent_p.K32K|CTCFL_ENST00000243914.3_Silent_p.K32K|CTCFL_ENST00000608425.1_Silent_p.K32K|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000423479.3_Silent_p.K32K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608158.1_Silent_p.K32K|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000432255.2_Silent_p.K32K|CTCFL_ENST00000481655.2_Silent_p.K32K|CTCFL_ENST00000371196.2_Silent_p.K32K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACACTCCGTCTTTTTCCTCCT	0.532													4	247	---	---	---	---
