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
SH3TC1	54436	broad.mit.edu	37	4	8237168	8237168	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:8237168G>A	ENST00000539824.1	+	15	3437	c.3063G>A	c.(3061-3063)caG>caA	p.Q1021Q	SH3TC1_ENST00000245105.3_Silent_p.Q1097Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1097							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGTGGCACAGAACGTGGCCC	0.647000													34	32					0	0	0.013726	0	0
LEMD3	23592	broad.mit.edu	37	12	65564632	65564632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:65564632C>T	ENST00000308330.2	+	1	1282	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	419					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGGCCGCCTCTAGTTCACTC	0.502000													20	65					0	0	0.010504	0	0
RNF115	27246	broad.mit.edu	37	1	145688151	145688151	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145688151G>A	ENST00000369291.5	+	9	1050	c.846G>A	c.(844-846)caG>caA	p.Q282Q		NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN	ring finger protein 115						protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						GGCAAAGCCAGAGCACTGAGG	0.458000													49	114					0	0	0.014410	0	0
N4BP2	55728	broad.mit.edu	37	4	40103906	40103906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40103906G>A	ENST00000261435.6	+	4	857	c.441G>A	c.(439-441)caG>caA	p.Q147Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	147						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCTTAATACAGAATGCTTTTG	0.333000													27	87					0	0	0.004656	0	0
FCRLB	127943	broad.mit.edu	37	1	161696695	161696695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161696695C>T	ENST00000336830.5	+	5	687	c.673C>T	c.(673-675)Cga>Tga	p.R225*	FCRLB_ENST00000367944.3_Nonsense_Mutation_p.R218*|FCRLB_ENST00000367948.2_Silent_p.V259V|FCRLB_ENST00000367946.3_Missense_Mutation_p.S211L|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.V259V|FCRLB_ENST00000367945.1_Missense_Mutation_p.S204L			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	0						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGCCCGAGGTCGAGGAGCTCG	0.687000													11	3					0	0	0.004007	0	0
JAG2	3714	broad.mit.edu	37	14	105618508	105618508	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105618508G>A	ENST00000331782.3	-	6	1312	c.909C>T	c.(907-909)ctC>ctT	p.L303L	JAG2_ENST00000347004.2_Silent_p.L303L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	303	EGF-like 2; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTTTGTCACAGAGCAGGCCGC	0.637000													33	34					0	0	0.004289	0	0
SOX7	83595	broad.mit.edu	37	8	10583400	10583400	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10583400G>A	ENST00000304501.1	-	2	1093	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	SOX7_ENST00000553390.1_Missense_Mutation_p.P391S|SOX7_ENST00000554914.1_Missense_Mutation_p.P391S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	339	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGGCCAGGAGTGTTCAAA	0.612000													12	13					0	0	0.013537	0	0
DAPK2	23604	broad.mit.edu	37	15	64332447	64332447	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64332447G>C	ENST00000261891.3	-	1	19	c.14C>G	c.(13-15)tCa>tGa	p.S5*	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Nonsense_Mutation_p.S5*|DAPK2_ENST00000558069.1_Nonsense_Mutation_p.S5*			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	5					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACTCCTCATTGAGGCCTGGAA	0.488000													20	95					0	0	0.007413	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007317	6007317	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6007317G>A	ENST00000399933.3	-	1	470	c.471C>T	c.(469-471)ttC>ttT	p.F157F	KIAA2026_ENST00000381461.2_Silent_p.F157F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	157										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGTCCGCCACGAACTCGGTGA	0.637000													11	48					0	0	0.003163	0	0
MYO9A	4649	broad.mit.edu	37	15	72338155	72338155	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72338155G>C	ENST00000356056.5	-	2	1222	c.750C>G	c.(748-750)aaC>aaG	p.N250K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.N250K|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000444904.1_Missense_Mutation_p.N250K|MYO9A_ENST00000424560.1_Missense_Mutation_p.N250K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	250	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAATAAGAAAGTTTGTGCTTT	0.433000													21	71					0	0	0.012319	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576939	67576939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67576939C>T	ENST00000310421.4	-	1	2513	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	752					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGGACCATCACGAATGGTACT	0.448000													37	175					0	0	0.004289	0	0
ACAN	176	broad.mit.edu	37	15	89402471	89402471	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89402471G>A	ENST00000439576.2	+	12	7029	c.6655G>A	c.(6655-6657)Gag>Aag	p.E2219K	ACAN_ENST00000352105.7_Missense_Mutation_p.E2219K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2219K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2219K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2219					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCATCCCAGAGTCTGAGTG	0.572000													16	27					0	0	0.004990	0	0
DST	667	broad.mit.edu	37	6	56707876	56707876	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:56707876T>A	ENST00000370769.4	-	1	67	c.68A>T	c.(67-69)gAg>gTg	p.E23V	DST_ENST00000370788.2_Missense_Mutation_p.E23V|DST_ENST00000361203.3_Missense_Mutation_p.E23V|DST_ENST00000421834.2_Missense_Mutation_p.E23V|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Missense_Mutation_p.E23V			Q03001	DYST_HUMAN	dystonin	23					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGGACATCCTCGTAGGCCTG	0.552000													12	16					0	0	0.013537	0	0
UBASH3A	53347	broad.mit.edu	37	21	43867303	43867303	+	Nonstop_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867303G>T	ENST00000319294.6	+	15	2016	c.1985G>T	c.(1984-1986)tGa>tTa	p.*662L	UBASH3A_ENST00000398367.1_3'UTR|UBASH3A_ENST00000291535.6_Nonstop_Mutation_p.*624L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	0						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCAGGCAACTGAGAGCCACGG	0.542000													34	98					6.00712e-18	6.35464e-18	0.012213	1	0
APC2	10297	broad.mit.edu	37	19	1453566	1453566	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1453566G>A	ENST00000535453.1	+	3	2082	c.369G>A	c.(367-369)ctG>ctA	p.L123L	APC2_ENST00000238483.4_Silent_p.L123L|APC2_ENST00000233607.2_Silent_p.L123L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	123					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGGAGCTGAGCCGGGCCA	0.721000													8	14					0	0	0.003080	0	0
NXF1	10482	broad.mit.edu	37	11	62563940	62563940	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62563940G>C	ENST00000532297.1	-	15	1907	c.1278C>G	c.(1276-1278)aaC>aaG	p.N426K	NXF1_ENST00000294172.2_Missense_Mutation_p.N426K|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	426	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCGGGCAGGGTTCTGAGGAA	0.562000													10	111					0	0	0.008291	0	0
LILRA5	353514	broad.mit.edu	37	19	54823808	54823808	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29L|LILRA5_ENST00000346508.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response	extracellular region|integral to membrane	receptor activity	p.L29L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAATCTCACCGAGGCAGAGCA	0.602000													8	71					0	0	0.004482	0	0
ABCA1	19	broad.mit.edu	37	9	107588035	107588035	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:107588035G>A	ENST00000374736.3	-	17	2865	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	824					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.S824L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATGGAGACCGAAGTGGTGAG	0.498000													74	35					0	0	0.014410	0	0
WDR78	79819	broad.mit.edu	37	1	67299731	67299731	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67299731T>A	ENST00000371026.3	-	12	1889	c.1834A>T	c.(1834-1836)Ata>Tta	p.I612L	WDR78_ENST00000431318.1_Missense_Mutation_p.I358L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	612										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTGCTGATATAGAAACTAGT	0.363000													29	67					0	0	0.006320	0	0
PKM	5315	broad.mit.edu	37	15	72492911	72492911	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72492911G>T	ENST00000319622.6	-	10	1849	c.1393C>A	c.(1393-1395)Ctg>Atg	p.L465M	PKM_ENST00000449901.2_Missense_Mutation_p.L450M|PKM_ENST00000565184.1_Missense_Mutation_p.L465M|PKM_ENST00000565154.1_Missense_Mutation_p.L465M|PKM_ENST00000335181.5_Missense_Mutation_p.L465M|PKM_ENST00000568459.1_Missense_Mutation_p.L465M|PKM_ENST00000568883.1_Missense_Mutation_p.L300M|PKM_ENST00000389093.3_Missense_Mutation_p.L465M	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CCACGGTACAGGTGGGCCTGA	0.617000													14	51					1.5842e-08	1.64153e-08	0.001855	1	0
SELENBP1	8991	broad.mit.edu	37	1	151339220	151339220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151339220G>A	ENST00000435071.1	-	6	912	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SELENBP1_ENST00000368868.5_Silent_p.F214F|SELENBP1_ENST00000426705.2_Silent_p.F256F|SELENBP1_ENST00000447402.3_Silent_p.F152F			Q13228	SBP1_HUMAN	selenium binding protein 1	214					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCGGGGTTGAAGCCATCTC	0.582000													51	225					0	0	0.014410	0	0
PCBP1	5093	broad.mit.edu	37	2	70315543	70315543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:70315543C>T	ENST00000303577.5	+	1	959	c.668C>T	c.(667-669)tCg>tTg	p.S223L	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	223					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GATGCCTACTCGATTCAAGGA	0.607000													23	29					0	0	0.002780	0	0
MIB2	142678	broad.mit.edu	37	1	1550988	1550988	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1550988G>C	ENST00000520777.1	+	1	194	c.149G>C	c.(148-150)cGa>cCa	p.R50P	MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.R50P|MIB2_ENST00000355826.5_Missense_Mutation_p.R50P|MIB2_ENST00000505820.2_Missense_Mutation_p.R50P|MIB2_ENST00000360522.4_5'UTR|RP11-345P4.9_ENST00000607222.1_RNA	NM_001170686.1	NP_001164157.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	0					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCACTGGCGCGATGCGGGCCG	0.716000													3	1					0	0	0.009096	0	0
LETMD1	25875	broad.mit.edu	37	12	51450271	51450271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51450271C>T	ENST00000418425.2	+	7	959	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	LETMD1_ENST00000552739.1_Nonsense_Mutation_p.Q184*|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Nonsense_Mutation_p.Q177*|LETMD1_ENST00000550929.1_Nonsense_Mutation_p.Q245*|LETMD1_ENST00000262055.4_Nonsense_Mutation_p.Q301*|LETMD1_ENST00000380123.2_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	301	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GCTGACTGCTCAGGAAGTAAA	0.507000													29	81					0	0	0.007291	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9552439	9552439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9552439C>G	ENST00000360635.3	-	5	1143	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.E83Q			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	83	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AATGGCCCTTCAAGGCCTTTT	0.403000													25	124					0	0	0.002780	0	0
BEST4	266675	broad.mit.edu	37	1	45251772	45251772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45251772C>T	ENST00000372207.3	-	4	609	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	204						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					AGAGCGATATCGTCACGTATT	0.512000											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	89					0	0	0.014410	0	0
MTMR7	9108	broad.mit.edu	37	8	17161949	17161949	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17161949C>T	ENST00000180173.5	-	12	1466	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	MTMR7_ENST00000398099.3_Missense_Mutation_p.D69N|MTMR7_ENST00000521857.1_Missense_Mutation_p.D478N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	478	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGGCTGTGATCAGCTCTAAAC	0.418000													30	28					0	0	0.009535	0	0
AHDC1	27245	broad.mit.edu	37	1	27875316	27875316	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27875316C>A	ENST00000374011.2	-	6	4279	c.3311G>T	c.(3310-3312)gGg>gTg	p.G1104V	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.637000													10	49					3.86212e-05	3.94553e-05	0.008291	1	0
SKIDA1	387640	broad.mit.edu	37	10	21804624	21804624	+	Missense_Mutation	SNP	C	C	T	rs35145063		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21804624C>T	ENST00000449193.2	-	4	4380	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	SKIDA1_ENST00000444772.3_Missense_Mutation_p.E631K	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E710*(2)									TCATTGCACTCGCACTTTAGC	0.393000													162	174					0	0	0.014410	0	0
HCAR1	27198	broad.mit.edu	37	12	123214722	123214722	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123214722G>A	ENST00000432564.1	-	1	407	c.165C>T	c.(163-165)ttC>ttT	p.F55F	HCAR1_ENST00000356987.2_Silent_p.F55F|HCAR1_ENST00000436083.2_Silent_p.F55F	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	55					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N56fs*6(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						CGGCCAAATTGAAAAGGTAAA	0.527000													16	11					0	0	0.004007	0	0
FANCF	2188	broad.mit.edu	37	11	22646239	22646239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22646239G>A	ENST00000327470.3	-	1	1148	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	373					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TGCCTATACAGAACTGAGGCC	0.383000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				42	56					0	0	0.010771	0	0
PCDH20	64881	broad.mit.edu	37	13	61985735	61985735	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:61985735G>A	ENST00000409186.1	-	5	4602	c.2497C>T	c.(2497-2499)Ctc>Ttc	p.L833F	PCDH20_ENST00000409204.4_Missense_Mutation_p.L833F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	806	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAGTGGAGAGGCTCGGGA	0.413000													33	50					0	0	0.010818	0	0
ZNF676	163223	broad.mit.edu	37	19	22364107	22364107	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:22364107C>T	ENST00000397121.2	-	3	729	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAACCTTTCTCTCCAGTATGC	0.318000													21	105					0	0	0.014323	0	0
GPATCH1	55094	broad.mit.edu	37	19	33579137	33579137	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33579137C>T	ENST00000170564.2	+	2	485	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	57						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGAGGTTTCTCTGCTGGAT	0.383000													26	59					0	0	0.007291	0	0
CST9L	128821	broad.mit.edu	37	20	23549008	23549008	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23549008T>C	ENST00000376979.3	-	1	378	c.80A>G	c.(79-81)tAt>tGt	p.Y27C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	27						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATGCCAGGCATAGATCAGCAG	0.567000													18	33					0	0	0.004990	0	0
BIRC6	57448	broad.mit.edu	37	2	32770731	32770731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32770731C>T	ENST00000421745.2	+	63	12748	c.12614C>T	c.(12613-12615)tCa>tTa	p.S4205L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4205					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAATCTCCATCAGCCAATGTG	0.393000													56	288					0	0	0.014410	0	0
CLCA4	22802	broad.mit.edu	37	1	87029391	87029391	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:87029391G>C	ENST00000370563.3	+	4	538	c.496G>C	c.(496-498)Gat>Cat	p.D166H	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	166						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGGAGTGTTTGATGAGTACAA	0.408000													17	52					0	0	0.006122	0	0
CYP46A1	10858	broad.mit.edu	37	14	100192565	100192565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:100192565G>A	ENST00000554176.1	+	9	1481	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R435H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R338H			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	435					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTGGGCCACCGCTCCTGCATC	0.642000													15	31					0	0	0.002450	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503079	45503079	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503079C>T	ENST00000291574.4	+	14	2309	c.2134C>T	c.(2134-2136)Cta>Tta	p.L712L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	712					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGCTCCTCTCTAGAGATGCC	0.557000													72	80					0	0	0.014410	0	0
RNF128	79589	broad.mit.edu	37	X	105937496	105937496	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:105937496G>C	ENST00000324342.3	+	1	429	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	113	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTAATACTAAGAAGCCCTGGA	0.408000													21	11					0	0	0.008871	0	0
HK3	3101	broad.mit.edu	37	5	176309065	176309065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176309065G>C	ENST00000292432.5	-	16	2208	c.2117C>G	c.(2116-2118)tCa>tGa	p.S706*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	706	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.S706L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGCGGCCTGAGTCCCCAGG	0.617000													16	23					0	0	0.004007	0	0
HN1	51155	broad.mit.edu	37	17	73132157	73132157	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:73132157G>A	ENST00000356033.4	-	4	763	c.486C>T	c.(484-486)ctC>ctT	p.L162L	HN1_ENST00000409753.3_3'UTR|HN1_ENST00000482348.1_3'UTR|HN1_ENST00000481647.1_3'UTR|HN1_ENST00000405458.3_3'UTR|HN1_ENST00000470924.1_3'UTR|HN1_ENST00000476258.1_3'UTR	NM_001002032.1	NP_001002032.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	0						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CACAAGCATGGAGGAAACAGA	0.468000													31	63					0	0	0.009535	0	0
LTBP4	8425	broad.mit.edu	37	19	41117097	41117097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41117097G>A	ENST00000308370.7	+	16	2051	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	LTBP4_ENST00000545697.1_Missense_Mutation_p.R137Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.R647Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.R617Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	684	Cys-rich.|EGF-like 6; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGTGGCCGAGGGGCCTGC	0.647000													6	35					0	0	0.001168	0	0
RIOK1	83732	broad.mit.edu	37	6	7398940	7398940	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7398940C>G	ENST00000379834.2	+	5	954	c.447C>G	c.(445-447)atC>atG	p.I149M		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	149							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGTATCGCATCAAAGATAAGG	0.313000													22	30					0	0	0.002780	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563761	46563761	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46563761G>A	ENST00000458649.2	-	7	2224	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	AMBRA1_ENST00000534300.1_Silent_p.V602V|AMBRA1_ENST00000533727.1_Silent_p.V512V|AMBRA1_ENST00000426438.1_Silent_p.V602V|AMBRA1_ENST00000528950.1_Silent_p.V602V|AMBRA1_ENST00000298834.3_Silent_p.V602V|AMBRA1_ENST00000314845.3_Silent_p.V512V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	602	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGAGCTGGGGACCTGCCAAG	0.582000													8	28					0	0	0.006214	0	0
GPR64	10149	broad.mit.edu	37	X	19032082	19032082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19032082G>C	ENST00000379878.3	-	15	1014	c.773C>G	c.(772-774)cCc>cGc	p.P258R	GPR64_ENST00000357991.3_Missense_Mutation_p.P271R|GPR64_ENST00000340581.3_Missense_Mutation_p.P244R|GPR64_ENST00000360279.4_Missense_Mutation_p.P252R|GPR64_ENST00000379869.3_Missense_Mutation_p.P274R|GPR64_ENST00000357544.3_Missense_Mutation_p.P244R|GPR64_ENST00000379873.2_Missense_Mutation_p.P274R|GPR64_ENST00000379876.1_Missense_Mutation_p.P250R|GPR64_ENST00000356606.4_Missense_Mutation_p.P260R|GPR64_ENST00000354791.3_Missense_Mutation_p.P258R	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	274					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGTAGCTTTGGGGACCTGGGA	0.542000													21	30					0	0	0.002780	0	0
APP	351	broad.mit.edu	37	21	27423431	27423431	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27423431C>G	ENST00000358918.3	-	5	746	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	APP_ENST00000448388.2_Missense_Mutation_p.E148Q|APP_ENST00000357903.3_Missense_Mutation_p.E183Q|APP_ENST00000354192.3_Missense_Mutation_p.E127Q|APP_ENST00000440126.3_Missense_Mutation_p.E178Q|APP_ENST00000439274.2_Missense_Mutation_p.E127Q|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.E183Q|APP_ENST00000346798.3_Missense_Mutation_p.E183Q|APP_ENST00000359726.3_Missense_Mutation_p.E183Q	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	183	Zinc-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACACAAACTCTACCCCTCGG	0.512000													6	54					0	0	0.001168	0	0
GBP3	2635	broad.mit.edu	37	1	89477538	89477538	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:89477538G>A	ENST00000370481.4	-	7	1261	c.1041C>T	c.(1039-1041)acC>acT	p.T347T		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	347			T -> S (in dbSNP:rs3188433).			integral to membrane	GTP binding|GTPase activity	p.T347T(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCTCCTGGAGGGTTTCTGCGG	0.537000													5	54					0	0	0.000602	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504879	125504879	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:125504879G>T	ENST00000431078.1	+	14	2512	c.2148G>T	c.(2146-2148)ggG>ggT	p.G716G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	716	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCTCCTGGGGTCCAGCAGT	0.517000													44	74					6.4771e-29	6.88192e-29	0.010771	1	0
TENM4	26011	broad.mit.edu	37	11	78399156	78399156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:78399156C>T	ENST00000278550.7	-	29	5665	c.5203G>A	c.(5203-5205)Gat>Aat	p.D1735N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATGGTGACATCATCCTTGCTG	0.562000													25	78					0	0	0.003330	0	0
DUS1L	64118	broad.mit.edu	37	17	80018637	80018637	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018637C>T	ENST00000354321.7	-	9	1447	c.962G>A	c.(961-963)gGa>gAa	p.G321E	DUS1L_ENST00000306796.5_Missense_Mutation_p.G321E			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	321					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGCTTCGCTCCCTCCTGCCT	0.692000													5	10					0	0	0.000602	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120950	28120950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:28120950G>C	ENST00000330236.6	+	6	1076	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E298Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		CAGGGGTCTTGAGCATGAAGA	0.478000													18	52					0	0	0.004990	0	0
NSUN2	54888	broad.mit.edu	37	5	6604332	6604332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:6604332C>T	ENST00000264670.6	-	17	2187	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	NSUN2_ENST00000539938.1_Missense_Mutation_p.D390N|NSUN2_ENST00000506139.1_Missense_Mutation_p.D591N	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	626						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATCTTAACATCTTCCATTGAT	0.363000													27	56					0	0	0.003954	0	0
MYO18A	399687	broad.mit.edu	37	17	27438549	27438549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27438549G>A	ENST00000527372.1	-	17	2973	c.2793C>T	c.(2791-2793)caC>caT	p.H931H	MYO18A_ENST00000354329.4_Silent_p.H931H|MYO18A_ENST00000531253.1_Silent_p.H931H|MYO18A_ENST00000533112.1_Silent_p.H931H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	931	Myosin head-like.				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)			TGCCATGGCTGTGGCCCAGGA	0.572000											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	29					0	0	0.003080	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549964	21549964	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21549964G>T	ENST00000298694.4	+	14	3064	c.2937G>T	c.(2935-2937)caG>caT	p.Q979H	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q979H			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	979					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GAGGGGCCCAGTGGGGGCCCC	0.711000													5	1					0.000602214	0.000613492	0.000602	1	0
ZNF185	7739	broad.mit.edu	37	X	152137987	152137987	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:152137987C>T	ENST00000535861.1	+	22	2074	c.2026C>T	c.(2026-2028)Cta>Tta	p.L676L	ZNF185_ENST00000318504.7_Silent_p.L585L|ZNF185_ENST00000370268.4_Silent_p.L644L|ZNF185_ENST00000539731.1_Silent_p.L647L|ZNF185_ENST00000370270.2_Silent_p.L676L|ZNF185_ENST00000454925.1_Silent_p.L282L|ZNF185_ENST00000318529.8_Silent_p.L423L|ZNF185_ENST00000449285.2_Silent_p.L645L|ZNF185_ENST00000324823.6_Silent_p.L412L	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	644	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATTACCCTAGAACATCT	0.473000													7	3					0	0	0.004482	0	0
SRRM2	23524	broad.mit.edu	37	16	2812535	2812535	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2812535C>T	ENST00000301740.8	+	11	2555	c.2006C>T	c.(2005-2007)tCa>tTa	p.S669L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	669	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGTGGCCGCTCACGCTCTAGA	0.617000													28	52					0	0	0.010818	0	0
EVI5	7813	broad.mit.edu	37	1	93170239	93170239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:93170239G>A	ENST00000370331.1	-	3	353	c.344C>T	c.(343-345)tCt>tTt	p.S115F	EVI5_ENST00000540033.1_Missense_Mutation_p.S115F|EVI5_ENST00000543509.1_Missense_Mutation_p.S115F	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	115	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CACAAGAGAAGAGCCACTGTT	0.363000													33	96					0	0	0.010818	0	0
EAF2	55840	broad.mit.edu	37	3	121554153	121554153	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:121554153C>T	ENST00000273668.2	+	1	92	c.21C>T	c.(19-21)ttC>ttT	p.F7F	EAF2_ENST00000451944.2_Silent_p.F7F|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	7					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAGCGGGATTCTCACACCTAG	0.557000													12	16					0	0	0.004007	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037941	50037941	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50037941G>A	ENST00000261897.1	+	25	3094	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R861Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R882Q|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	861					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AGGCGGCGGCGGACACTCCTA	0.597000											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	29					0	0	0.003080	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019547	131019547	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131019547C>T	ENST00000421699.2	-	26	2820	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	GOLGA2_ENST00000609374.1_Silent_p.V924V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	936						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGGCGAGGCTCACCTCGCAAA	0.637000													33	22					0	0	0.008740	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526080	109526080	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:109526080G>A	ENST00000429722.2	-	4	1080	c.717C>T	c.(715-717)ccC>ccT	p.P239P	ALKBH2_ENST00000343075.3_Silent_p.P239P|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	239	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P239P(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TCTTTCTCACGGGAAGACTGT	0.483000								Direct reversal of damage					49	193					0	0	0.014410	0	0
MCC	4163	broad.mit.edu	37	5	112418687	112418687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112418687C>T	ENST00000302475.4	-	9	1647	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E552K|MCC_ENST00000515367.2_Missense_Mutation_p.E299K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	362					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCAGGTGTTCAGCCACACTG	0.423000													20	47					0	0	0.008871	0	0
VTN	7448	broad.mit.edu	37	17	26696647	26696647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26696647G>C	ENST00000226218.4	-	3	1028	c.410C>G	c.(409-411)tCa>tGa	p.S137*	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	137					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTCAGGCCTTGAGTCTATCCC	0.612000													10	37					0	0	0.008291	0	0
USP3	9960	broad.mit.edu	37	15	63850344	63850344	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:63850344T>G	ENST00000268049.7	+	7	748	c.424T>G	c.(424-426)Ttg>Gtg	p.L142V	USP3_ENST00000559711.1_Missense_Mutation_p.L75V|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.L147V|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Missense_Mutation_p.L120V|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.L164V|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	164					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CCTTCGGAATTTGGGGAACAC	0.483000													31	30					0	0	0.010818	0	0
IGFN1	91156	broad.mit.edu	37	1	201182530	201182530	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:201182530G>A	ENST00000335211.4	+	12	8639	c.8509G>A	c.(8509-8511)Gag>Aag	p.E2837K	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGAGCAGACGAGGCTGGAAG	0.627000													13	16					0	0	0.002450	0	0
SH2D7	646892	broad.mit.edu	37	15	78393321	78393321	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:78393321C>T	ENST00000328828.5	+	5	726	c.726C>T	c.(724-726)atC>atT	p.I242I	SH2D7_ENST00000409568.2_Silent_p.I106I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	242										endometrium(2)|kidney(2)|lung(3)	7						GTGACATCATCTATGCAGACC	0.612000													18	33					0	0	0.007413	0	0
DDI2	84301	broad.mit.edu	37	1	15956939	15956939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15956939C>T	ENST00000480945.1	+	3	559	c.388C>T	c.(388-390)Cag>Tag	p.Q130*		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	130					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCATCTCCTCAGGGCTTGGA	0.562000													24	114					0	0	0.014323	0	0
RALBP1	10928	broad.mit.edu	37	18	9522255	9522255	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:9522255G>A	ENST00000019317.4	+	4	1024	c.801G>A	c.(799-801)ctG>ctA	p.L267L	RALBP1_ENST00000383432.3_Silent_p.L267L			Q15311	RBP1_HUMAN	ralA binding protein 1	267	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CCAGTTTGCTGAAGCAGTATT	0.463000													16	53					0	0	0.004990	0	0
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2888	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592000													30	13					0	0	0.007291	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822517	10822517	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:10822517G>A	ENST00000526148.1	-	15	2041	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	EIF4G2_ENST00000525681.1_Silent_p.L511L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L473L|EIF4G2_ENST00000339995.5_Silent_p.L511L	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	511					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACCTGTCCCAGAGGTGGTGTT	0.413000													38	134					0	0	0.004878	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20864431	20864431	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:20864431C>A	ENST00000381552.1	+	5	884	c.516C>A	c.(514-516)tcC>tcA	p.S172S	SLCO1C1_ENST00000266509.2_Silent_p.S172S|SLCO1C1_ENST00000540354.1_Silent_p.S172S|SLCO1C1_ENST00000545604.1_Silent_p.S172S|SLCO1C1_ENST00000545102.1_Silent_p.S54S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	172					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATCAAAATCCAAAATAAGTA	0.343000													23	39					2.32416e-17	2.45503e-17	0.014323	1	0
FAM83D	81610	broad.mit.edu	37	20	37576568	37576568	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576568G>A	ENST00000217429.4	+	3	832	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	234					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GCAAGGTCAGGAACTAAGATT	0.438000													34	125					0	0	0.003755	0	0
NEK2	4751	broad.mit.edu	37	1	211842601	211842601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:211842601C>T	ENST00000366999.4	-	6	977	c.839G>A	c.(838-840)aGa>aAa	p.R280K	NEK2_ENST00000540251.1_Missense_Mutation_p.R237K|NEK2_ENST00000366998.3_Missense_Mutation_p.R280K|NEK2_ENST00000462283.1_5'UTR	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	280	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGATTTCTTCTTTGCTCGTC	0.408000													41	132					0	0	0.008740	0	0
XPO6	23214	broad.mit.edu	37	16	28128716	28128716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28128716G>A	ENST00000304658.5	-	15	2427	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	XPO6_ENST00000565698.1_Missense_Mutation_p.H629Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	643					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTCTGCCGGTGAACTTCACTG	0.488000													28	147					0	0	0.006320	0	0
TNXB	7148	broad.mit.edu	37	6	32024681	32024681	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32024681C>T	ENST00000375244.3	-	23	8027		c.e23-1		TNXB_ENST00000375247.2_Splice_Site			P22105	TENX_HUMAN	tenascin XB						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCATCCTCTGGAGTTGGA	0.582000													14	41					0	0	0.004990	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571662	155571662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:155571662G>A	ENST00000392845.3	-	1	505	c.125C>T	c.(124-126)tCa>tTa	p.S42L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S42L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCGGCCCGCTGAGTCCAAATG	0.602000													11	47					0	0	0.013537	0	0
CCDC38	120935	broad.mit.edu	37	12	96284667	96284667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96284667C>G	ENST00000344280.3	-	9	1371	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	272										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCCCGGACTCCTCAAGGATG	0.443000													27	45					0	0	0.006320	0	0
TECPR2	9895	broad.mit.edu	37	14	102898163	102898163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102898163C>T	ENST00000359520.7	+	8	1341	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	TECPR2_ENST00000558678.1_Missense_Mutation_p.S372L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	372							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGGATGCTCAGAGCGTGTC	0.552000													29	87					0	0	0.006320	0	0
VCAN	1462	broad.mit.edu	37	5	82815228	82815228	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:82815228C>G	ENST00000265077.3	+	7	1668	c.1103C>G	c.(1102-1104)tCc>tGc	p.S368C	VCAN_ENST00000512590.2_Missense_Mutation_p.S320C|VCAN_ENST00000342785.4_Missense_Mutation_p.S368C|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	368	GAG-alpha (glucosaminoglycan attachment domain).				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)		CCCAGTTTATCCAAAGAACCA	0.388000													42	89					0	0	0.010771	0	0
SESN1	27244	broad.mit.edu	37	6	109415101	109415101	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109415101G>A	ENST00000436639.2	-	1	921	c.176C>T	c.(175-177)tCg>tTg	p.S59L	SESN1_ENST00000517548.1_5'UTR	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	0					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CAACCCATCCGAAGACTCGGT	0.423000													74	110					0	0	0.014410	0	0
COL7A1	1294	broad.mit.edu	37	3	48626328	48626328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48626328G>C	ENST00000328333.8	-	18	2522	c.2415C>G	c.(2413-2415)taC>taG	p.Y805*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.Y805*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	805	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCAGTCTGTAAGCTGTGG	0.617000													9	42					0	0	0.008291	0	0
SENP6	26054	broad.mit.edu	37	6	76425252	76425252	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76425252C>G	ENST00000370014.3	+	24	3900	c.3281C>G	c.(3280-3282)tCa>tGa	p.S1094*	SENP6_ENST00000447266.2_Nonsense_Mutation_p.S1094*|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Nonsense_Mutation_p.S1087*	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1094	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GACACTTACTCAACAGAAGCA	0.363000													57	80					0	0	0.014410	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489579	100489579	+	Missense_Mutation	SNP	G	G	C	rs12824229		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:100489579G>C	ENST00000279907.7	-	7	918	c.706C>G	c.(706-708)Cta>Gta	p.L236V	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.L236V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	236										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						TCCAATATTAGAACTAACTTT	0.303000													18	53					0	0	0.006122	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764318	66764318	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66764318C>T	ENST00000414507.1	-	0	137																											CTAACTCCTTCACCGCAGTGC	0.458000													177	455					0	0	0.014410	0	0
ROR1	4919	broad.mit.edu	37	1	64643416	64643416	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:64643416C>T	ENST00000371079.1	+	9	2067	c.1692C>T	c.(1690-1692)ctC>ctT	p.L564L	ROR1_ENST00000545203.1_Silent_p.L15L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	564	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGAGTTCCTCATCATGAGAT	0.483000													39	42					0	0	0.006230	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709449	38709449	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:38709449G>A	ENST00000417039.1	-	0	696																											GGGCACCATTGAAATCCTGAG	0.532000													28	20					0	0	0.009535	0	0
AQP7	364	broad.mit.edu	37	9	33385603	33385603	+	Missense_Mutation	SNP	C	C	T	rs140943510	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33385603C>T	ENST00000541274.1	-	5	841	c.392G>A	c.(391-393)gGt>gAt	p.G131D	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACACAGGGGACCCACAGAAAA	0.617000													7	78					0	0	0.001855	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114256945	114256945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:114256945G>A	ENST00000306507.5	+	1	285	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	38					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						agatgaagacgaggtggaaga	0.657000													48	63					0	0	0.014410	0	0
IPO4	79711	broad.mit.edu	37	14	24656660	24656660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656660G>C	ENST00000354464.6	-	6	710	c.534C>G	c.(532-534)ttC>ttG	p.F178L	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	178					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GCAGGGAGTAGAAGAGCAGCC	0.592000													16	64					0	0	0.004007	0	0
UTP23	84294	broad.mit.edu	37	8	117782536	117782536	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:117782536G>C	ENST00000309822.2	+	2	395	c.294G>C	c.(292-294)gtG>gtC	p.V98V	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Silent_p.V98V|UTP23_ENST00000520733.1_5'UTR	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	98					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AGAATGCAGTGAGTGGATCAG	0.383000													27	124					0	0	0.004656	0	0
IFNL3	282617	broad.mit.edu	37	19	39734756	39734756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734756C>T	ENST00000413851.2	-	3	338	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_172139.2	NP_742151.2			interferon, lambda 3																		CCTTCAGCGTCAGGGCCAGCT	0.647000													18	21					0	0	0.007413	0	0
NRARP	441478	broad.mit.edu	37	9	140196323	140196323	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140196323C>T	ENST00000356628.2	-	1	380	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	20					negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		CGCACAGCCTCCTGGAAGATG	0.706000													6	40					0	0	0.001168	0	0
GDF2	2658	broad.mit.edu	37	10	48416501	48416501	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416501C>G	ENST00000249598.1	-	1	352	c.193G>C	c.(193-195)Gat>Cat	p.D65H		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	65					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGCAGGAAATCCACCTTCACG	0.587000													18	67					0	0	0.006122	0	0
IKBKB	3551	broad.mit.edu	37	8	42129721	42129721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:42129721C>G	ENST00000520810.1	+	2	289	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	IKBKB_ENST00000416505.2_Missense_Mutation_p.I7M|IKBKB_ENST00000519735.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000518983.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000522147.1_Missense_Mutation_p.Q35E|IKBKB_ENST00000379708.3_Missense_Mutation_p.I7M|IKBKB_ENST00000520835.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	35	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATGGCACAATCAGGTAGGCCC	0.607000													15	56					0	0	0.003163	0	0
ZNF792	126375	broad.mit.edu	37	19	35451187	35451187	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35451187C>T	ENST00000404801.1	-	3	621	c.235G>A	c.(235-237)Gat>Aat	p.D79N	ZNF792_ENST00000605484.1_Missense_Mutation_p.D12N	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGTCATATCCACACTGTCA	0.537000													7	35					0	0	0.008291	0	0
TGM6	343641	broad.mit.edu	37	20	2413155	2413155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2413155C>T	ENST00000202625.2	+	13	2048	c.1987C>T	c.(1987-1989)Cag>Tag	p.Q663*	TGM6_ENST00000381423.1_Missense_Mutation_p.S618L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	663					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTGGAGCCTCAGGAGAGGGC	0.607000													18	55					0	0	0.008871	0	0
NUP188	23511	broad.mit.edu	37	9	131749135	131749135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131749135G>A	ENST00000372577.2	+	22	2266	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	749					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGTGCCACGAGACAGACCT	0.507000													12	102					0	0	0.013537	0	0
FETUB	26998	broad.mit.edu	37	3	186358310	186358310	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186358310C>T	ENST00000265029.3	+	1	162	c.61C>T	c.(61-63)Cca>Tca	p.P21S	FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382134.3_Missense_Mutation_p.P21S|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Missense_Mutation_p.P21S|FETUB_ENST00000382136.3_Missense_Mutation_p.P21S	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	21						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGCAATGTCTCCACCCCAGCT	0.592000													101	101					0	0	0.014410	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358809	6358809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:6358809C>T	ENST00000262483.8	-	20	2861	c.2774G>A	c.(2773-2775)aGa>aAa	p.R925K	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R889K	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGACATGGTTCTGCGCAGGTG	0.677000													16	5					0	0	0.004007	0	0
AP4B1	10717	broad.mit.edu	37	1	114447326	114447326	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114447326C>T	ENST00000369569.1	-	1	294	c.14G>A	c.(13-15)gGc>gAc	p.G5D	AP4B1_ENST00000369566.3_Missense_Mutation_p.G5D|AP4B1_ENST00000256658.4_Missense_Mutation_p.G5D|AP4B1_ENST00000369567.1_Missense_Mutation_p.G5D	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	5					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCTCGGAGCCAAGGTACGG	0.562000													87	75					0	0	0.014410	0	0
KIF13A	63971	broad.mit.edu	37	6	17804706	17804706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:17804706G>A	ENST00000378814.5	-	20	2339	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	KIF13A_ENST00000378826.2_Silent_p.F780F|KIF13A_ENST00000378843.2_Silent_p.F780F|KIF13A_ENST00000378816.5_Silent_p.F780F|KIF13A_ENST00000259711.6_Silent_p.F780F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	780					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGCTTCATAGAAAGGGTCAC	0.423000													21	6					0	0	0.012319	0	0
ARL4A	10124	broad.mit.edu	37	7	12728246	12728246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:12728246G>A	ENST00000396663.1	+	2	849	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ARL4A_ENST00000396664.2_Missense_Mutation_p.E123K|ARL4A_ENST00000356797.3_Missense_Mutation_p.E123K|ARL4A_ENST00000396662.1_Missense_Mutation_p.E123K|ARL4A_ENST00000404894.1_Missense_Mutation_p.E123K	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	123					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TAGGATATCAGAAAATCAGGG	0.378000													11	78					0	0	0.013537	0	0
GRPEL2	134266	broad.mit.edu	37	5	148730750	148730750	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:148730750G>A	ENST00000329271.3	+	4	693	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	195					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCACCGTGGCATTAGT	0.532000													55	59					0	0	0.014410	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98392650	98392650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98392650G>A	ENST00000371109.3	-	1	348	c.167C>T	c.(166-168)tCa>tTa	p.S56L	PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371110.2_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	454						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ctcacaagatgaccctgggac	0.468000													12	41					0	0	0.010729	0	0
BMS1	9790	broad.mit.edu	37	10	43292488	43292488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43292488C>T	ENST00000374518.5	+	10	1859	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.S599L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGCTCCTCACTCAGTGCA	0.458000													86	80					0	0	0.014410	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792135	11792135	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11792135T>G	ENST00000356957.3	-	8	1141	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T	TXNDC11_ENST00000283033.5_Missense_Mutation_p.K318T			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	345					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TAAGGCCCACTTACAGATGTT	0.557000													36	16					0	0	0.004878	0	0
KMT2D	8085	broad.mit.edu	37	12	49434778	49434778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49434778C>T	ENST00000301067.7	-	31	6774	c.6775G>A	c.(6775-6777)Gag>Aag	p.E2259K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGGGCTCTCAGGCACAGCC	0.632000													16	34					0	0	0.008871	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230192	140230192	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140230192C>G	ENST00000378122.3	+	1	2836	c.2112C>G	c.(2110-2112)atC>atG	p.I704M	PCDHA9_ENST00000532602.1_Missense_Mutation_p.I704M|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTGT	0.662000													31	31					0	0	0.009535	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111614220	111614220	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111614220G>A	ENST00000527614.1	-	12	1499	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L	PPP2R1B_ENST00000426998.2_Silent_p.L414L|PPP2R1B_ENST00000311129.5_Silent_p.L478L|PPP2R1B_ENST00000341980.6_Silent_p.L433L|PPP2R1B_ENST00000427203.2_Silent_p.L317L|PPP2R1B_ENST00000393055.2_Silent_p.L351L	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	478							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTAGTTTCATGAGGTTGTTGG	0.383000													49	83					0	0	0.014410	0	0
MON2	23041	broad.mit.edu	37	12	62861092	62861092	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:62861092C>T	ENST00000393630.3	+	1	496	c.105C>T	c.(103-105)gtC>gtT	p.V35V	MON2_ENST00000393632.2_Silent_p.V35V|MON2_ENST00000552738.1_Silent_p.V35V|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000280379.6_Silent_p.V35V|MON2_ENST00000393629.2_Silent_p.V35V|MON2_ENST00000552115.1_Silent_p.V35V|MON2_ENST00000546600.1_Silent_p.V35V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TCCCACCTGTCAAAGAGGTAA	0.542000													20	70					0	0	0.008871	0	0
HIRA	7290	broad.mit.edu	37	22	19418988	19418988	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:19418988C>T	ENST00000263208.5	-	1	268	c.12G>A	c.(10-12)ctG>ctA	p.L4L	HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|HIRA_ENST00000340170.4_Silent_p.L4L	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	4					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGGTCGGCTTCAGGAGCTTCA	0.756000													7	12					0	0	0.003080	0	0
RERE	473	broad.mit.edu	37	1	8420690	8420690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:8420690C>T	ENST00000337907.3	-	19	3511	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	RERE_ENST00000377464.1_Missense_Mutation_p.M691I|RERE_ENST00000400908.2_Missense_Mutation_p.M959I|RERE_ENST00000476556.1_Missense_Mutation_p.M405I|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	959	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGTTGGCATTCATGGAGAAGG	0.687000													24	100					0	0	0.006320	0	0
OLFM4	10562	broad.mit.edu	37	13	53624514	53624514	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:53624514C>G	ENST00000219022.2	+	5	1219	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	381	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGTTGCTTGGCAAGATATTGA	0.413000													57	149					0	0	0.014410	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252343	145252343	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:145252343A>G	ENST00000377976.1	-	1	188	c.189T>C	c.(187-189)ggT>ggC	p.G63G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	63										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACCCATAAACACCATCCATTG	0.498000													49	83					0	0	0.014410	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190762	209190762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190762C>G	ENST00000264380.4	+	20	3385	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1076					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGAGATGCTCTACCCGAGAT	0.423000													27	50					0	0	0.006320	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502976	140502976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140502976G>A	ENST00000194152.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		466	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.647000													26	44					0	0	0.004289	0	0
DCAF10	79269	broad.mit.edu	37	9	37842126	37842126	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37842126A>T	ENST00000242323.7	+	3	768	c.694A>T	c.(694-696)Act>Tct	p.T232S	RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000377724.3_Missense_Mutation_p.T232S			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	232						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CTCTGATGACACTACAATAGC	0.358000													97	49					0	0	0.014410	0	0
MAP3K7	6885	broad.mit.edu	37	6	91257893	91257893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:91257893G>A	ENST00000369329.3	-	10	1114	c.953C>T	c.(952-954)tCa>tTa	p.S318L	MAP3K7_ENST00000369325.3_Missense_Mutation_p.S318L|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.S318L|MAP3K7_ENST00000369327.3_Missense_Mutation_p.S318L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	318					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTCCATGAATGAGCCTAGGAA	0.343000													40	64					0	0	0.006999	0	0
KRT75	9119	broad.mit.edu	37	12	52827960	52827960	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:52827960C>G	ENST00000252245.5	-	1	349	c.129G>C	c.(127-129)ggG>ggC	p.G43G		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	43	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGCCCCCACTCCCTGCTGCAG	0.672000													6	48					0	0	0.004482	0	0
MORN1	79906	broad.mit.edu	37	1	2268254	2268254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2268254G>A	ENST00000378531.3	-	11	1245	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	358										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCCACTCGCTGACAGGCCCCG	0.652000													11	15					0	0	0.001855	0	0
CEP70	80321	broad.mit.edu	37	3	138256169	138256169	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138256169C>T	ENST00000264982.3	-	7	752	c.486G>A	c.(484-486)aaG>aaA	p.K162K	CEP70_ENST00000542237.1_Silent_p.K142K|CEP70_ENST00000481834.1_Silent_p.K162K|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Silent_p.K162K|CEP70_ENST00000464035.1_Silent_p.K162K|CEP70_ENST00000489254.1_Silent_p.K10K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	162					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTCGTTTTTTCTTATAATGCT	0.343000													11	41					0	0	0.010729	0	0
SNX18	112574	broad.mit.edu	37	5	53815651	53815651	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:53815651G>A	ENST00000326277.3	+	1	2059	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	SNX18_ENST00000343017.6_Intron|SNX18_ENST00000381410.4_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	623	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TACCTTTGATGACAGTGCTAT	0.413000													15	44					0	0	0.003163	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606862	82606862	+	Missense_Mutation	SNP	C	C	T	rs148561963		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:82606862C>T	ENST00000518568.1	-	1	1547	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	116						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTGATTTCTTCAATGAGTCTT	0.363000													41	183					0	0	0.013114	0	0
MX2	4600	broad.mit.edu	37	21	42778893	42778893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42778893G>A	ENST00000330714.3	+	13	2057	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	625	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCCTTTACTGAAATAGGCAT	0.488000													41	41					0	0	0.010771	0	0
CDK18	5129	broad.mit.edu	37	1	205498223	205498223	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205498223C>T	ENST00000360066.2	+	11	1372	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Splice_Site_p.L357L|CDK18_ENST00000506784.1_Splice_Site_p.L387L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	355	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTCGCCTCCTCGGTCAGTCTC	0.706000											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	1					0	0	0.004672	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512680	35512680	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35512680G>A	ENST00000599564.1	+	16	1997	c.1926G>A	c.(1924-1926)cgG>cgA	p.R642R	GRAMD1A_ENST00000504615.2_Silent_p.R321R|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.R555R|GRAMD1A_ENST00000411896.2_Silent_p.R548R			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	555						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCGGCGGCGGAAGCGGCCCC	0.682000													7	17					0	0	0.004482	0	0
ZNF655	79027	broad.mit.edu	37	7	99170633	99170633	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99170633A>C	ENST00000424881.1	+	4	1227	c.1007A>C	c.(1006-1008)aAa>aCa	p.K336T	GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000394163.2_Missense_Mutation_p.K301T|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.K336T|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.K301T	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	301					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACCAGAGCCAAATCTTACAAA	0.393000													22	79					0	0	0.014323	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196839	72196839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:72196839G>A	ENST00000555818.1	+	18	5093	c.4745G>A	c.(4744-4746)aGa>aAa	p.R1582K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R1036K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1561K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1561K|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1582					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTGCACAGAACACTGTCG	0.547000													19	44					0	0	0.010504	0	0
WDR62	284403	broad.mit.edu	37	19	36590419	36590419	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36590419A>G	ENST00000401500.2	+	22	2674	c.2639A>G	c.(2638-2640)cAg>cGg	p.Q880R	WDR62_ENST00000270301.7_Missense_Mutation_p.Q880R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	880					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGATGCCCAGGACCTGGAT	0.632000													33	47					0	0	0.010818	0	0
HTR7	3363	broad.mit.edu	37	10	92617043	92617043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:92617043G>C	ENST00000371721.3	-	1	628	c.386C>G	c.(385-387)tCg>tGg	p.S129W	HTR7_ENST00000336152.3_Missense_Mutation_p.S129W|HTR7_ENST00000277874.6_Missense_Mutation_p.S129W|HTR7_ENST00000371719.2_Missense_Mutation_p.S129W			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	129					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CACAGCCACCGAGAGGTCGGC	0.597000													10	48					0	0	0.008291	0	0
TRIM6	117854	broad.mit.edu	37	11	5624860	5624860	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624860C>G	ENST00000380097.3	+	2	644	c.402C>G	c.(400-402)ctC>ctG	p.L134L	TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380107.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000278302.5_Silent_p.L106L|TRIM6_ENST00000445329.1_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L134L|HBG2_ENST00000380259.2_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACTGCAGCTCTTCTGTCAGG	0.557000													40	65					0	0	0.009718	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054357	67054357	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:67054357T>C	ENST00000295568.4	+	3	1019	c.888T>C	c.(886-888)aaT>aaC	p.N296N	KBTBD8_ENST00000417314.2_Silent_p.N322N|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	322										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AACCACCAAATGACCTGAGAG	0.443000													71	77					0	0	0.014410	0	0
ECE2	9718	broad.mit.edu	37	3	183967552	183967552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:183967552G>A	ENST00000402825.3	+	1	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.E24K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	24	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGCGAAGTCGAGTACTGGGA	0.672000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					0	0	0.008291	0	0
PPM1G	5496	broad.mit.edu	37	2	27605009	27605009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27605009G>A	ENST00000344034.4	-	9	1682	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	PPM1G_ENST00000350803.4_Missense_Mutation_p.S473L	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	473					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACAATGGATGACAATAACCG	0.483000													16	71					0	0	0.004007	0	0
ASL	435	broad.mit.edu	37	7	65554627	65554627	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:65554627C>G	ENST00000304874.9	+	14	1109	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	AC068533.7_ENST00000450043.1_Silent_p.V104V|ASL_ENST00000380839.4_Nonsense_Mutation_p.S310*|ASL_ENST00000395332.3_Nonsense_Mutation_p.S336*|ASL_ENST00000395331.3_Nonsense_Mutation_p.S316*|ASL_ENST00000464970.1_3'UTR	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	336					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TTTGAAGTGTCAGACACTATG	0.642000													14	53					0	0	0.003163	0	0
NCOR1	9611	broad.mit.edu	37	17	15942956	15942956	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:15942956G>C	ENST00000268712.3	-	44	7003	c.6746C>G	c.(6745-6747)tCt>tGt	p.S2249C	NCOR1_ENST00000395857.3_Missense_Mutation_p.S833C|NCOR1_ENST00000395851.1_Missense_Mutation_p.S2146C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2249	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGGCCTCTAGAGCTAACTGA	0.433000													7	12					0	0	0.001984	0	0
MKNK1	8569	broad.mit.edu	37	1	47024307	47024307	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47024307C>T	ENST00000371946.4	-	14	1501	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R	MKNK1_ENST00000371944.4_Silent_p.R310R|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Silent_p.R405R|MKNK1_ENST00000341183.5_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	446			R -> Q (in dbSNP:rs34881418).		intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GGGCCCGTCTCCGGGCCAGGC	0.627000													23	27					0	0	0.003330	0	0
DSCR9	257203	broad.mit.edu	37	21	38593674	38593674	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:38593674G>A	ENST00000454482.2	+	0	1281					NR_026719.2																						GCCTACAGCCGAAGAGGATGG	0.642000													20	23					0	0	0.007413	0	0
FNDC1	84624	broad.mit.edu	37	6	159677592	159677592	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677592C>T	ENST00000297267.9	+	18	5303	c.5103C>T	c.(5101-5103)atC>atT	p.I1701I	FNDC1_ENST00000340366.6_Silent_p.I1638I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1701	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAGACTTCATCAGGAACAAGT	0.423000													62	173					0	0	0.014410	0	0
HHIP	64399	broad.mit.edu	37	4	145567932	145567932	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:145567932G>T	ENST00000296575.3	+	1	760	c.105G>T	c.(103-105)agG>agT	p.R35S	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R35S	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	35	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCGGAGCAAGGAGGAGAAGGT	0.562000													21	64					2.4624e-09	2.56005e-09	0.008871	1	0
REN	5972	broad.mit.edu	37	1	204125005	204125005	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:204125005G>A	ENST00000367195.2	-	8	1036	c.993C>T	c.(991-993)atC>atT	p.I331I	REN_ENST00000272190.8_Silent_p.I334I			P00797	RENI_HUMAN	renin	334					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGTGGAAAGAGATGTCGGGGA	0.567000													8	9					0	0	0.003080	0	0
RBM44	375316	broad.mit.edu	37	2	238730445	238730445	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:238730445C>T	ENST00000316997.4	+	8	2315	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	RBM44_ENST00000409864.1_Missense_Mutation_p.S728L	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	727							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGTTTCTTCAAACCTAAAA	0.323000													6	17					0	0	0.004482	0	0
CPQ	10404	broad.mit.edu	37	8	97797339	97797339	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97797339G>C	ENST00000220763.5	+	2	424	c.214G>C	c.(214-216)Gat>Cat	p.D72H		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	72					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										ACTTCTGGTTGATACTGTTGG	0.453000													18	122					0	0	0.004990	0	0
ZNF562	54811	broad.mit.edu	37	19	9763894	9763894	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9763894G>C	ENST00000448622.1	-	6	1174	c.1012C>G	c.(1012-1014)Cac>Gac	p.H338D	ZNF562_ENST00000541032.1_Missense_Mutation_p.H301D|ZNF562_ENST00000293648.4_Missense_Mutation_p.H266D|ZNF562_ENST00000537617.1_Missense_Mutation_p.H222D|ZNF562_ENST00000453372.2_Missense_Mutation_p.H338D|ZNF562_ENST00000453792.2_Missense_Mutation_p.H269D|ZNF562_ENST00000590155.1_Missense_Mutation_p.H337D	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTCCAGTGTGAGTTCTTACA	0.418000													37	127					0	0	0.005524	0	0
ZNF302	55900	broad.mit.edu	37	19	35175770	35175770	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:35175770G>A	ENST00000505242.1	+	5	1322	c.828G>A	c.(826-828)caG>caA	p.Q276Q	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.Q276Q|ZNF302_ENST00000446502.2_Silent_p.Q320Q|ZNF302_ENST00000423823.2_Silent_p.Q276Q			Q9NR11	ZN302_HUMAN	zinc finger protein 302	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTAACCATCAGAGCACTCACA	0.438000													18	68					0	0	0.008871	0	0
RNF213	57674	broad.mit.edu	37	17	78268536	78268536	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:78268536G>A	ENST00000582970.1	+	9	1632	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	RNF213_ENST00000319921.4_Missense_Mutation_p.D497N|RNF213_ENST00000508628.2_Missense_Mutation_p.D546N|RNF213_ENST00000456466.1_Missense_Mutation_p.D497N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	497										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAGTACTATGACATAGTTTA	0.502000													28	63					0	0	0.006320	0	0
BLMH	642	broad.mit.edu	37	17	28601152	28601152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28601152C>T	ENST00000261714.6	-	7	883	c.709G>A	c.(709-711)Gac>Aac	p.D237N	BLMH_ENST00000394819.3_Missense_Mutation_p.D150N|BLMH_ENST00000582669.1_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	237					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TTATCTTTGTCTCGATATTCC	0.438000													23	76					0	0	0.002780	0	0
LOXL4	84171	broad.mit.edu	37	10	100022549	100022549	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:100022549G>A	ENST00000260702.3	-	2	378	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	76	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		AGGCAGCTTCGAAGCCCAGCT	0.622000											OREG0020428	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	27					0	0	0.010818	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24768670C>T	ENST00000003912.3	+	5	757	c.42C>T	c.(40-42)ttC>ttT	p.F14F	NIPAL3_ENST00000358028.4_Silent_p.F96F|NIPAL3_ENST00000428131.1_Silent_p.F96F|NIPAL3_ENST00000374399.4_Silent_p.F96F|NIPAL3_ENST00000339255.2_Silent_p.F96F			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACGCCTTCGCGCCGCTGT	0.632000													19	75					0	0	0.010504	0	0
SLC39A13	91252	broad.mit.edu	37	11	47433961	47433961	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47433961G>A	ENST00000524928.1	+	3	490	c.480G>A	c.(478-480)ctG>ctA	p.L160L	SLC39A13_ENST00000362021.4_Silent_p.L160L|SLC39A13_ENST00000529740.1_3'UTR|SLC39A13_ENST00000533076.1_Silent_p.L160L|SLC39A13_ENST00000354884.4_Silent_p.L160L			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	160					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CTGGCATCCTGACCTTCCTGG	0.637000											OREG0020959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	22					0	0	0.010729	0	0
DDX60L	91351	broad.mit.edu	37	4	169351708	169351708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:169351708G>A	ENST00000511577.1	-	13	1845	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	DDX60L_ENST00000260184.7_Missense_Mutation_p.S533L|DDX60L_ENST00000505890.1_Missense_Mutation_p.S533L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	533							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGTAGAGATTGATTCTAACGA	0.373000													5	14					0	0	0.000602	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:137328351C>T	ENST00000540193.1	+	9	1912	c.989C>T	c.(988-990)tCc>tTc	p.S330F	RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													50	44					0	0	0.014410	0	0
OSMR	9180	broad.mit.edu	37	5	38904542	38904542	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38904542G>C	ENST00000274276.3	+	9	1624	c.1222G>C	c.(1222-1224)Gat>Cat	p.D408H		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	408	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACGGTGTGCTGATGCCAGCCA	0.478000													16	55					0	0	0.004990	0	0
RIN1	9610	broad.mit.edu	37	11	66099842	66099842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099842C>G	ENST00000311320.4	-	10	2383	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Missense_Mutation_p.E587Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	753					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCAGTTGTCTCAGACTGTTCC	0.632000													60	159					0	0	0.014410	0	0
WRAP73	49856	broad.mit.edu	37	1	3547608	3547608	+	Silent	SNP	G	G	A	rs145375547		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3547608G>A	ENST00000270708.7	-	12	1387	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	WRAP73_ENST00000378322.3_3'UTR	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	438						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCAGAGGCAGAAGTGATCCT	0.592000													44	77					0	0	0.011902	0	0
TMEM150C	441027	broad.mit.edu	37	4	83406710	83406710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83406710G>A	ENST00000515780.2	-	8	908	c.704C>T	c.(703-705)tCa>tTa	p.S235L	TMEM150C_ENST00000449862.2_Missense_Mutation_p.S235L			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						CAGGCTTTCTGAGAAGCTTAG	0.493000													9	12					0	0	0.004482	0	0
ACSS1	84532	broad.mit.edu	37	20	24994205	24994205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:24994205G>A	ENST00000537502.1	-	8	2828	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*	ACSS1_ENST00000542618.1_Nonsense_Mutation_p.R395*|ACSS1_ENST00000323482.4_Nonsense_Mutation_p.R516*|ACSS1_ENST00000432802.2_Nonsense_Mutation_p.R516*			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	516					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCCACAAATCGCTGGTGGTCG	0.592000													5	15					0	0	0.000602	0	0
EPHB6	2051	broad.mit.edu	37	7	142564247	142564247	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:142564247G>A	ENST00000392957.2	+	10	2258	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	EPHB6_ENST00000411471.2_Missense_Mutation_p.V214I|EPHB6_ENST00000442129.1_Missense_Mutation_p.V491I	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	491	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCCTCTGCTGTCCCTGTGGT	0.607000													11	43					0	0	0.010729	0	0
FEM1C	56929	broad.mit.edu	37	5	114879143	114879143	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114879143G>A	ENST00000274457.3	-	2	609	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	16						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TGAGAAGCCGGAGTTTGCCAT	0.468000													31	30					0	0	0.008361	0	0
CETP	1071	broad.mit.edu	37	16	57016076	57016076	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57016076G>A	ENST00000200676.3	+	14	1378		c.e14-1		CETP_ENST00000379780.2_Splice_Site|CETP_ENST00000566128.1_Splice_Site	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma						cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TTGATTGGCAGAGCAGCTCCG	0.577000													38	28					0	0	0.007835	0	0
CUTC	51076	broad.mit.edu	37	10	101514304	101514304	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101514304G>T	ENST00000370476.5	+	8	749	c.620G>T	c.(619-621)aGa>aTa	p.R207I		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	207					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATAACAGACAGAAATCTACAA	0.363000													81	221					2.80266e-47	2.98657e-47	0.014410	1	0
HIGD2A	192286	broad.mit.edu	37	5	175816403	175816403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175816403C>T	ENST00000274787.2	+	2	299	c.226C>T	c.(226-228)Cag>Tag	p.Q76*		NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	76	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CCAGCGCTCTCAGCTCATGAT	0.637000													45	69					0	0	0.014410	0	0
ZNF347	84671	broad.mit.edu	37	19	53644301	53644301	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53644301C>T	ENST00000452676.2	-	5	2209	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E595K|ZNF347_ENST00000334197.7_Missense_Mutation_p.E594K	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAGGTTTCTCTCCAGTATGA	0.398000													46	353					0	0	0.011902	0	0
RSL1D1	26156	broad.mit.edu	37	16	11933795	11933795	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:11933795C>G	ENST00000571133.1	-	8	975	c.903G>C	c.(901-903)gaG>gaC	p.E301D	RSL1D1_ENST00000542106.1_Missense_Mutation_p.E81D	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	301					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tcttcttcctctccttttgtt	0.398000													38	65					0	0	0.003755	0	0
DNAH3	55567	broad.mit.edu	37	16	21170741	21170741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21170741C>T	ENST00000261383.3	-	1	21	c.22G>A	c.(22-24)Gag>Aag	p.E8K	TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000261388.3_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.E8K|TMEM159_ENST00000451578.2_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	8	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTGTGAGCTCGAGGCGCCCT	0.627000													44	38					0	0	0.014410	0	0
ATP1B3	483	broad.mit.edu	37	3	141626055	141626055	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141626055C>T	ENST00000539728.1	+	4	536	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Silent_p.F95F			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	95					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AATATACATTCAGTAGGTCTG	0.363000													28	84					0	0	0.006320	0	0
UBA3	9039	broad.mit.edu	37	3	69112141	69112141	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69112141G>T	ENST00000361055.4	-	9	739	c.685C>A	c.(685-687)Cca>Aca	p.P229T	UBA3_ENST00000349511.4_Missense_Mutation_p.P215T|UBA3_ENST00000415609.2_Missense_Mutation_p.P188T|UBA3_ENST00000540295.1_Missense_Mutation_p.P52T	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	229	Interaction with NEDD8.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACCTGTGGTGGATAAAGTTCC	0.388000													71	63					8.27458e-37	8.80464e-37	0.014410	1	0
TREM2	54209	broad.mit.edu	37	6	41129313	41129313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41129313C>T	ENST00000373113.3	-	2	172	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	TREM2_ENST00000373122.4_Missense_Mutation_p.V27M|TREM2_ENST00000338469.3_Missense_Mutation_p.V27M	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	27					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCCGCCACGCCCTGGAAC	0.592000													5	51					0	0	0.010729	0	0
GDF2	2658	broad.mit.edu	37	10	48416478	48416478	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:48416478C>G	ENST00000249598.1	-	1	375	c.216G>C	c.(214-216)ctG>ctC	p.L72L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	72					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGACCCCACTCAGGTTAAGGC	0.577000													18	65					0	0	0.008871	0	0
CASC10	399726	broad.mit.edu	37	10	21785724	21785724	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:21785724G>A	ENST00000377113.5	-	1	467	c.20C>T	c.(19-21)tCa>tTa	p.S7L		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10																		GCGCCACCCTGAGGGCTCCCG	0.647000													3	9					0	0	0.000602	0	0
ZNF226	7769	broad.mit.edu	37	19	44676255	44676255	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44676255C>T	ENST00000588883.1	+	4	338	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ZNF226_ENST00000589160.1_Silent_p.F10F|ZNF226_ENST00000588795.1_Silent_p.F10F|ZNF226_ENST00000337433.5_Silent_p.F10F|ZNF226_ENST00000588742.1_Silent_p.F10F|ZNF226_ENST00000590089.1_Silent_p.F10F|ZNF226_ENST00000413984.2_Silent_p.F10F|ZNF226_ENST00000454662.2_Silent_p.F10F|ZNF226_ENST00000300823.6_Silent_p.F10F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGTGACCTTCAAGGACGTGG	0.507000													52	89					0	0	0.014410	0	0
FANCM	57697	broad.mit.edu	37	14	45605471	45605471	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45605471G>A	ENST00000267430.5	+	1	322	c.237G>A	c.(235-237)gcG>gcA	p.A79A	FANCM_ENST00000542564.2_Silent_p.A79A|FANCM_ENST00000556036.1_Silent_p.A79A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	79					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCACCTCCGCGGGCGCCCTGT	0.597000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	37					0	0	0.006214	0	0
RBBP8	5932	broad.mit.edu	37	18	20606179	20606179	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20606179A>C	ENST00000399725.2	+	18	2990	c.2573A>C	c.(2572-2574)cAa>cCa	p.Q858P	RBBP8_ENST00000360790.5_Silent_p.P895P|RBBP8_ENST00000327155.5_Silent_p.P890P|RBBP8_ENST00000399722.2_Silent_p.P890P|RBBP8_ENST00000581687.1_Silent_p.P68P	NM_203292.1	NP_976037.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	0					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TATTTTCTCCAAAAGGCAAGG	0.348000								Homologous recombination					30	21					0	0	0.012213	0	0
POLR2E	5434	broad.mit.edu	37	19	1093966	1093966	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1093966C>T	ENST00000215587.7	-	2	452	c.169G>A	c.(169-171)Gac>Aac	p.D57N	POLR2E_ENST00000586746.1_Missense_Mutation_p.D57N			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	57					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGAGGTCCGTGCGCCGC	0.642000													5	13					0	0	0.000602	0	0
CRH	1392	broad.mit.edu	37	8	67089335	67089335	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67089335G>A	ENST00000276571.3	-	2	824	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	126					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	CGGGGCTGTCGAGCGAGCGCC	0.711000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	5					0	0	0.009096	0	0
SAA4	6291	broad.mit.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488000													8	47					0	0	0.003080	0	0
FEM1C	56929	broad.mit.edu	37	5	114878661	114878661	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:114878661C>G	ENST00000274457.3	-	2	1091	c.530G>C	c.(529-531)aGa>aCa	p.R177T		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	177						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GACACTTTTTCTATTAACATC	0.363000													27	83					0	0	0.005443	0	0
AKR1E2	83592	broad.mit.edu	37	10	4875593	4875593	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:4875593A>G	ENST00000298375.7	+	3	330	c.259A>G	c.(259-261)Agt>Ggt	p.S87G	AKR1E2_ENST00000532248.1_Missense_Mutation_p.S87G|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Missense_Mutation_p.S87G|AKR1E2_ENST00000345253.5_Missense_Mutation_p.S87G	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	87						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ATGCAGAAAGAGTCTCAAGGC	0.527000													9	425					0	0	0.006214	0	0
ARNT2	9915	broad.mit.edu	37	15	80883951	80883951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:80883951C>T	ENST00000533983.1	+	19	2267	c.1928C>T	c.(1927-1929)tCg>tTg	p.S643L	ARNT2_ENST00000527771.1_Missense_Mutation_p.S643L|ARNT2_ENST00000303329.4_Missense_Mutation_p.S654L			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	654					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGGCGGCCCTCGGAAGTCTGG	0.562000													19	44					0	0	0.007413	0	0
AES	166	broad.mit.edu	37	19	3055693	3055693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3055693C>G	ENST00000221561.8	-	5	646	c.467G>C	c.(466-468)tGt>tCt	p.C156S	AES_ENST00000586839.1_Missense_Mutation_p.C33S|AES_ENST00000327141.4_Missense_Mutation_p.C89S|AES_ENST00000592330.1_Intron	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	89	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTGGGCACAAATCCCGTT	0.642000													12	27					0	0	0.001855	0	0
SASH1	23328	broad.mit.edu	37	6	148855934	148855934	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:148855934C>G	ENST00000367467.3	+	16	2467	c.1992C>G	c.(1990-1992)acC>acG	p.T664T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	664	SAM 1.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATTTGGACACCTTTAAGCTGC	0.488000													71	86					0	0	0.014410	0	0
PROS1	5627	broad.mit.edu	37	3	93611869	93611869	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93611869G>A	ENST00000394236.3	-	10	1379	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	PROS1_ENST00000407433.1_Missense_Mutation_p.R224C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	355	Laminin G-like 1.		R -> H (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCACCACGAAGTGCAATC	0.393000													8	120					0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98581886	98581886	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98581886A>G	ENST00000359863.4	+	60	9414	c.9205A>G	c.(9205-9207)Act>Gct	p.T3069A	TRRAP_ENST00000446306.3_Missense_Mutation_p.T3040A|TRRAP_ENST00000355540.3_Missense_Mutation_p.T3040A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3069	FAT.				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)			TACTATTCCAACTGTTCCTAT	0.473000													38	126					0	0	0.008740	0	0
ATP8B1	5205	broad.mit.edu	37	18	55368508	55368508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55368508G>A	ENST00000536015.1	-	5	550	c.431C>T	c.(430-432)aCa>aTa	p.T144I	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T144I|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	144					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGGCACTAGTGTGGTGTACCA	0.463000													12	27					0	0	0.013537	0	0
AQR	9716	broad.mit.edu	37	15	35230975	35230975	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35230975C>T	ENST00000156471.5	-	9	906	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	227						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGATAAACTTCTGGATGAGTT	0.338000													17	119					0	0	0.004007	0	0
KCNT1	57582	broad.mit.edu	37	9	138662868	138662868	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138662868G>A	ENST00000298480.5	+	18	2009	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	KCNT1_ENST00000263604.3_Silent_p.K626K|KCNT1_ENST00000490355.2_Silent_p.K626K|KCNT1_ENST00000491806.2_Silent_p.K612K|KCNT1_ENST00000371757.2_Silent_p.K645K|KCNT1_ENST00000486577.2_Silent_p.K606K|KCNT1_ENST00000487664.1_Silent_p.K600K|KCNT1_ENST00000488444.2_Silent_p.K626K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	645						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCGGAAGAAGAGGGCCTTCT	0.652000													13	5					0	0	0.013537	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748504	139748504	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139748504G>A	ENST00000445819.1	+	6	696	c.646G>A	c.(646-648)Gag>Aag	p.E216K	MAMDC4_ENST00000317446.2_Missense_Mutation_p.E216K|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	216	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGATGACCTAGAGTTCTGGGA	0.627000													16	71					0	0	0.007413	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796692	93796692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93796692G>A	ENST00000315765.9	+	3	442	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	145	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACCCAGATGGAACATCTGGA	0.418000													6	7					0	0	0.001168	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834692	27834692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:27834692C>T	ENST00000331442.3	-	1	667	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	206					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGGCTTAGCGGCTTTGGGC	0.552000													10	44					0	0	0.010729	0	0
CCNL2	81669	broad.mit.edu	37	1	1334489	1334489	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1334489C>T	ENST00000400809.3	-	1	203	c.198G>A	c.(196-198)tcG>tcA	p.S66S	CCNL2_ENST00000408918.4_Silent_p.S66S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	66					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGAGGCCGCTCGACATGGACG	0.672000													4	36					0	0	0.001168	0	0
C11orf73	51501	broad.mit.edu	37	11	86048553	86048553	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:86048553C>T	ENST00000533986.1	+	3	639	c.401C>T	c.(400-402)tCa>tTa	p.S134L	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000278483.3_Missense_Mutation_p.S134L			Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	134						cytoplasm				kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				GCTGTATCCTCAGTTGACTCA	0.383000													48	319					0	0	0.014410	0	0
BTG2	7832	broad.mit.edu	37	1	203276346	203276346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:203276346G>A	ENST00000290551.4	+	2	328	c.257G>A	c.(256-258)gGa>gAa	p.G86E		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	86					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			AGCCAGATCGGACTCAGCCAG	0.632000													11	38					0	0	0.013537	0	0
PKHD1	5314	broad.mit.edu	37	6	51612670	51612670	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:51612670G>A	ENST00000371117.3	-	58	10019	c.9744C>T	c.(9742-9744)ttC>ttT	p.F3248F	PKHD1_ENST00000340994.4_Silent_p.F3248F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3248					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)					GTTCTGAGGTGAATACAGGCC	0.448000													53	97					0	0	0.014410	0	0
CCDC51	79714	broad.mit.edu	37	3	48474369	48474369	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48474369C>T	ENST00000395694.2	-	4	770	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CCDC51_ENST00000395696.1_Missense_Mutation_p.E229K|CCDC51_ENST00000412398.2_Missense_Mutation_p.E120K|CCDC51_ENST00000442740.1_Missense_Mutation_p.E120K|CCDC51_ENST00000447018.1_Missense_Mutation_p.E120K	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	229						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTTCAGCTCCTGTAGTCGC	0.597000													26	89					0	0	0.003330	0	0
UBL3	5412	broad.mit.edu	37	13	30341760	30341760	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:30341760G>C	ENST00000380680.4	-	4	1441	c.296C>G	c.(295-297)tCt>tGt	p.S99C		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	99						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		CTTACCTTGAGAGTTTGGCTC	0.408000													36	39					0	0	0.004878	0	0
P2RX7	5027	broad.mit.edu	37	12	121615003	121615003	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:121615003C>T	ENST00000328963.5	+	9	970	c.516C>T	c.(514-516)tcC>tcT	p.S172S	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.S252S|P2RX7_ENST00000541446.1_Silent_p.S53S|P2RX7_ENST00000377162.2_Silent_p.S253S|P2RX7_ENST00000546057.1_Silent_p.S342S			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	342						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAACCCTCTCCTACTTCGGTC	0.468000													57	76					0	0	0.014410	0	0
COBL	23242	broad.mit.edu	37	7	51095844	51095844	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:51095844C>T	ENST00000395542.2	-	12	3379	c.3195G>A	c.(3193-3195)caG>caA	p.Q1065Q	COBL_ENST00000265136.7_Silent_p.Q983Q			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	983										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGATCCCTCTGGGAAGACT	0.557000													16	62					0	0	0.004007	0	0
SLC8B1	80024	broad.mit.edu	37	12	113737681	113737681	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113737681G>A	ENST00000552014.1	-	17	2171	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	SLC8B1_ENST00000202831.3_Silent_p.L552L|SLC8B1_ENST00000546737.1_Silent_p.L496L|SLC8B1_ENST00000550047.1_Silent_p.L67L|SLC8B1_ENST00000549069.1_Silent_p.L111L					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	552																	AGACTCTGCTGAGCTGGAAGC	0.577000													25	37					0	0	0.010818	0	0
MCM3	4172	broad.mit.edu	37	6	52129560	52129560	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52129560G>C	ENST00000596288.1	-	17	2415	c.2388C>G	c.(2386-2388)ctC>ctG	p.L796L	MCM3_ENST00000229854.7_Silent_p.L751L|MCM3_ENST00000419835.2_Silent_p.L705L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	751					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACACATCCAAGAGGGCCACCT	0.507000													56	91					0	0	0.014410	0	0
PGBD5	79605	broad.mit.edu	37	1	230486730	230486730	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230486730A>G	ENST00000321327.2	-	5	957	c.958T>C	c.(958-960)Tgt>Cgt	p.C320R	PGBD5_ENST00000525115.1_Missense_Mutation_p.C221R|PGBD5_ENST00000391860.1_Missense_Mutation_p.C175R			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	221						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GTGGAAGAACATTGTCTGACC	0.567000													24	58					0	0	0.003954	0	0
MPZ	4359	broad.mit.edu	37	1	161277071	161277071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161277071C>T	ENST00000533357.1	-	2	277	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.E71K|MPZ_ENST00000360451.6_Missense_Mutation_p.E81K	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	71	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCCCCCTTCGGGCTGGTAG	0.552000													4	67					0	0	0.001168	0	0
GABRA5	2558	broad.mit.edu	37	15	27188493	27188493	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:27188493G>C	ENST00000335625.5	+	10	1897	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.E337Q|GABRA5_ENST00000355395.5_Missense_Mutation_p.E337Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	337					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCGCTGATAGAGTTTGCCAC	0.542000													6	9					0	0	0.001168	0	0
RFWD2	64326	broad.mit.edu	37	1	176012859	176012859	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:176012859G>A	ENST00000367669.3	-	13	2031	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	RFWD2_ENST00000308769.8_Missense_Mutation_p.S482L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	506					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATAGACCTTTGACCTCTGTCC	0.353000													75	246					0	0	0.014410	0	0
AKAP9	10142	broad.mit.edu	37	7	91690664	91690664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91690664G>A	ENST00000359028.2	+	24	5953	c.5728G>A	c.(5728-5730)Gaa>Aaa	p.E1910K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1910K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1898K|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1910	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGCCAAGAGGAACTTCGAGA	0.483000			T	BRAF	papillary thyroid								37	40					0	0	0.004289	0	0
LYZL6	57151	broad.mit.edu	37	17	34264799	34264799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:34264799C>G	ENST00000585556.1	-	3	595	c.261G>C	c.(259-261)aaG>aaC	p.K87N	LYZL6_ENST00000293274.4_Missense_Mutation_p.K87N|LYZL6_ENST00000394523.3_Missense_Mutation_p.K87N|LYZL6_ENST00000492340.2_5'UTR			O75951	LYZL6_HUMAN	lysozyme-like 6	87					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAGTAACTCTTATAATCGT	0.473000													23	40					0	0	0.003755	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664407	25664407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25664407G>A	ENST00000382051.3	+	3	243	c.193G>A	c.(193-195)Gag>Aag	p.E65K	SLC34A2_ENST00000503434.1_Missense_Mutation_p.E64K|SLC34A2_ENST00000504570.1_Missense_Mutation_p.E64K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	65					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAGCCCACTGAGGTGGATGA	0.517000			T	ROS1	NSCLC								103	64					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86087153	86087153	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86087153G>A	ENST00000394518.2	+	5	724	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.R210Q	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	210					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCCTTGGAGCGAGGCTATCAC	0.582000													9	45					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64680937	64680937	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64680937C>T	ENST00000357395.3	+	107	19381	c.8237C>T	c.(8236-8238)tCt>tTt	p.S2746F	SYNE2_ENST00000554805.1_Missense_Mutation_p.S144F|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000555022.1_Missense_Mutation_p.S239F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6361F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2746F|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6303F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S2995F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6361F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6361					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGAGGCCTCTGAGAATGAA	0.468000													48	51					0	0	0.013114	0	0
KIAA0100	9703	broad.mit.edu	37	17	26967693	26967693	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967693C>T	ENST00000528896.2	-	8	849	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E116K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E116K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	259						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACTAAGTTTTCTGTCACCTCT	0.463000													23	36					0	0	0.014323	0	0
DHX29	54505	broad.mit.edu	37	5	54573026	54573026	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:54573026G>T	ENST00000251636.5	-	13	2342	c.2194C>A	c.(2194-2196)Cta>Ata	p.L732I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	732	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCACTCATTAGAATCAAGTGT	0.368000													11	67					1.08611e-07	1.12114e-07	0.010729	1	0
FAM83C	128876	broad.mit.edu	37	20	33879833	33879833	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33879833C>T	ENST00000374408.3	-	1	371	c.275G>A	c.(274-276)aGc>aAc	p.S92N		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	92										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGAGCCTCGCTGAGCTCAGG	0.662000													8	45					0	0	0.006214	0	0
A2ML1	144568	broad.mit.edu	37	12	8988871	8988871	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:8988871G>A	ENST00000299698.7	+	7	844	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	66						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						GTTTAAGGTGGAAGTGGTGGA	0.448000													10	30					0	0	0.010729	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065357	21065357	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21065357G>A	ENST00000274695.4	+	12	1301	c.1134G>A	c.(1132-1134)gtG>gtA	p.V378V	CDKAL1_ENST00000378624.4_Silent_p.V308V|CDKAL1_ENST00000378610.1_Silent_p.V378V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	378					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAGAAACAGTGAAACTTGTTG	0.368000													22	504					0	0	0.014323	0	0
EIF3F	8665	broad.mit.edu	37	11	8014480	8014480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:8014480G>A	ENST00000533626.1	+	6	1188	c.562G>A	c.(562-564)Gag>Aag	p.E188K	EIF3F_ENST00000309828.4_Missense_Mutation_p.E188K|EIF3F_ENST00000537635.1_Missense_Mutation_p.E203K|EIF3F_ENST00000449102.2_Missense_Mutation_p.E39K			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	188	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGATCCACGAGTACTACAG	0.542000													62	46					0	0	0.014410	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974489	64974489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64974489G>A	ENST00000399262.2	-	8	1656	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P261S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P298S|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P261S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	480					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATTCCTGAGGAAGTAAATCA	0.373000													61	190					0	0	0.014410	0	0
UBASH3A	53347	broad.mit.edu	37	21	43867289	43867289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:43867289G>C	ENST00000319294.6	+	15	2002	c.1971G>C	c.(1969-1971)tgG>tgC	p.W657C	UBASH3A_ENST00000398367.1_3'UTR|UBASH3A_ENST00000291535.6_Missense_Mutation_p.W619C	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	657	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAGGAACTGGATCTCAGGCA	0.527000													38	107					0	0	0.004289	0	0
GPATCH8	23131	broad.mit.edu	37	17	42513873	42513873	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42513873G>C	ENST00000591680.1	-	4	264	c.234C>G	c.(232-234)gtC>gtG	p.V78V	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	78	G-patch.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCATGCCCATGACATCATACT	0.373000													45	60					0	0	0.013114	0	0
ZNF197	10168	broad.mit.edu	37	3	44684773	44684773	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44684773G>T	ENST00000396058.1	+	5	2318	c.2151G>T	c.(2149-2151)atG>atT	p.M717I	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.M717I|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	717					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCTTTATTATGAGCAAAAGTT	0.423000													65	88					5.73332e-34	6.09462e-34	0.014410	1	0
DMXL1	1657	broad.mit.edu	37	5	118533494	118533494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533494C>T	ENST00000311085.8	+	32	7668	c.7588C>T	c.(7588-7590)Ctt>Ttt	p.L2530F	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2530F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2530										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTAAAAACTCTTCAATGTTG	0.403000													29	100					0	0	0.008361	0	0
SLAIN2	57606	broad.mit.edu	37	4	48422195	48422195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48422195C>T	ENST00000264313.6	+	7	1832	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	SLAIN2_ENST00000512093.1_Missense_Mutation_p.R305W	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	472						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TTTGGCTCTTCGGCAACCAGT	0.478000													10	39					0	0	0.008291	0	0
GNB1	2782	broad.mit.edu	37	1	1720636	1720636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720636C>T	ENST00000378609.4	-	10	1103	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	258					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGCTCCTGGTCAGCACGAAGG	0.532000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	61					0	0	0.004482	0	0
RRN3P2	653390	broad.mit.edu	37	16	29105712	29105712	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:29105712C>T	ENST00000564580.1	+	0	843																											GTGGAAACAGCTAGTGCTGCT	0.353000													3	29					0	0	0.004672	0	0
RIN1	9610	broad.mit.edu	37	11	66099752	66099752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099752C>G	ENST00000311320.4	-	10	2473	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	RIN1_ENST00000424433.2_Missense_Mutation_p.R583S|RIN1_ENST00000530056.1_Missense_Mutation_p.E617Q	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	783					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCAAGCTACTCCTCTGCTGCC	0.632000													53	122					0	0	0.014410	0	0
PPP6R3	55291	broad.mit.edu	37	11	68363635	68363635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68363635G>A	ENST00000393799.2	+	19	2254	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	PPP6R3_ENST00000524845.1_Missense_Mutation_p.E634K|PPP6R3_ENST00000265637.4_Missense_Mutation_p.E617K|PPP6R3_ENST00000524904.1_Missense_Mutation_p.E657K|PPP6R3_ENST00000393801.3_Missense_Mutation_p.E663K|PPP6R3_ENST00000265636.5_Missense_Mutation_p.E583K|PPP6R3_ENST00000529710.1_Missense_Mutation_p.E583K|PPP6R3_ENST00000393800.2_Missense_Mutation_p.E663K|PPP6R3_ENST00000534534.1_Missense_Mutation_p.E431K|PPP6R3_ENST00000527403.2_Missense_Mutation_p.E628K			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	663					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGACTTGTTTGAACCCAGCAG	0.453000													51	50					0	0	0.014410	0	0
STAG3L4	64940	broad.mit.edu	37	7	66771042	66771042	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66771042C>G	ENST00000416602.2	+	0	334					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGCTTGTTAACTTTTTCATCT	0.388000													40	201					0	0	0.009718	0	0
SBDS	51119	broad.mit.edu	37	7	66456253	66456253	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:66456253C>T	ENST00000246868.2	-	4	678	c.495G>A	c.(493-495)atG>atA	p.M165I		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	165					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTCTATCTTCATTTTCTCTT	0.368000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				25	55					0	0	0.006320	0	0
STX19	415117	broad.mit.edu	37	3	93733304	93733304	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:93733304T>C	ENST00000315099.2	-	2	1066	c.810A>G	c.(808-810)ctA>ctG	p.L270L	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	270	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATTTTACAGCTAGTCCAAATT	0.328000													39	30					0	0	0.005524	0	0
LRRC42	115353	broad.mit.edu	37	1	54428058	54428058	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:54428058C>T	ENST00000371370.3	+	7	1424	c.903C>T	c.(901-903)tgC>tgT	p.C301C	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Silent_p.C301C	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	301										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ATAGTAACTGCAAGACAGAGG	0.453000													6	24					0	0	0.001168	0	0
IL3RA	3563	broad.mit.edu	37	X	1484114	1484114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:1484114C>G	ENST00000331035.4	+	9	1192	c.843C>G	c.(841-843)ttC>ttG	p.F281L	IL3RA_ENST00000381469.2_Missense_Mutation_p.F203L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	281						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTATGAATTCTTGAGCGCCT	0.607000													18	30					0	0	0.008871	0	0
SRPK2	6733	broad.mit.edu	37	7	104782887	104782887	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104782887C>T	ENST00000357311.3	-	10	1249	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	SRPK2_ENST00000393651.3_Missense_Mutation_p.E371K|SRPK2_ENST00000489828.1_Missense_Mutation_p.E360K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	360	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCATCTTTTTCAATGTTTTCT	0.393000													33	137					0	0	0.012213	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28975091	28975091	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:28975091C>G	ENST00000320805.4	+	8	1242	c.1167C>G	c.(1165-1167)ctC>ctG	p.L389L	NFATC2IP_ENST00000564978.1_Silent_p.L110L|NFATC2IP_ENST00000568148.1_Silent_p.L97L|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	389	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GACGGAAGCTCTCCTTCTTCT	0.547000													17	59					0	0	0.004007	0	0
EXOSC2	23404	broad.mit.edu	37	9	133569207	133569207	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133569207C>T	ENST00000372358.5	+	1	100	c.29C>T	c.(28-30)gCt>gTt	p.A10V	EXOSC2_ENST00000372352.3_Missense_Mutation_p.A10V|EXOSC2_ENST00000372351.3_Missense_Mutation_p.A10V|EXOSC2_ENST00000546165.1_Missense_Mutation_p.A10V			Q13868	EXOS2_HUMAN	exosome component 2	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CTTCCAGTGGCTCGCAAGCCT	0.587000													5	12					0	0	0.001984	0	0
DXO	1797	broad.mit.edu	37	6	31938901	31938901	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31938901G>T	ENST00000375349.3	-	3	791	c.380C>A	c.(379-381)gCc>gAc	p.A127D	DXO_ENST00000337523.5_Missense_Mutation_p.A127D|DXO_ENST00000375356.3_Missense_Mutation_p.A127D|DXO_ENST00000478221.1_5'UTR					decapping exoribonuclease	127																	CGTCACTATGGCCTCTGCCAG	0.587000													17	21					1.75199e-13	1.83815e-13	0.007291	1	0
DBH	1621	broad.mit.edu	37	9	136507542	136507542	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136507542A>G	ENST00000393056.2	+	3	712	c.700A>G	c.(700-702)Att>Gtt	p.I234V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	234					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTGGTGCTACATTAAGGAGCT	0.607000													12	10					0	0	0.010729	0	0
DCLK1	9201	broad.mit.edu	37	13	36686315	36686315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36686315C>G	ENST00000255448.4	-	3	625	c.414G>C	c.(412-414)aaG>aaC	p.K138N	DCLK1_ENST00000360631.3_Missense_Mutation_p.K138N|DCLK1_ENST00000379892.4_Missense_Mutation_p.K138N	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	138	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACTCCAGTTTCTTGAAGGGCT	0.433000													26	54					0	0	0.005443	0	0
EML3	256364	broad.mit.edu	37	11	62372641	62372641	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62372641G>C	ENST00000394773.2	-	16	2233	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	EML3_ENST00000531557.1_Silent_p.L425L|EML3_ENST00000494176.2_Silent_p.L614L|EML3_ENST00000529309.1_Silent_p.L642L|EML3_ENST00000278845.4_Silent_p.L643L	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	642						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGCACAGAGACCAGTCT	0.562000													16	57					0	0	0.004007	0	0
ANO3	63982	broad.mit.edu	37	11	26465320	26465320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:26465320G>A	ENST00000256737.3	+	3	1102	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ANO3_ENST00000525139.1_Missense_Mutation_p.E68K|ANO3_ENST00000537978.1_Missense_Mutation_p.E68K|ANO3_ENST00000531646.1_Missense_Mutation_p.E84K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	84						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGTTAATACTGAGGAGAATAA	0.338000													10	28					0	0	0.010729	0	0
SLX4	84464	broad.mit.edu	37	16	3641190	3641190	+	Missense_Mutation	SNP	C	C	T	rs143730668		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3641190C>T	ENST00000294008.3	-	12	3089	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	817	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCAAGAGTTCCTGGAAATTC	0.498000								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	29	82					0	0	0.008361	0	0
CD109	135228	broad.mit.edu	37	6	74440088	74440088	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74440088G>A	ENST00000437994.2	+	4	729	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CD109_ENST00000287097.5_Missense_Mutation_p.E100K|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	100						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGCAGATGAGATTTATGA	0.373000													30	135					0	0	0.008361	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545870	43545870	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43545870G>A	ENST00000430334.3	-	5	1146	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S249L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	338					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGGAGAGCGAGGCCTGTGG	0.552000													28	30					0	0	0.006320	0	0
PTCD3	55037	broad.mit.edu	37	2	86333455	86333455	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86333455G>A	ENST00000254630.7	+	1	151	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	PTCD3_ENST00000409277.3_Missense_Mutation_p.E29K|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	29						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GGGTTTGTGTGAACAGGCACG	0.597000													17	47					0	0	0.014323	0	0
CCNB3	85417	broad.mit.edu	37	X	50052841	50052841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50052841G>A	ENST00000376042.1	+	6	1970	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E558K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	558					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATGATTGGTGAAGATAAGAA	0.378000													31	9					0	0	0.008361	0	0
RBM11	54033	broad.mit.edu	37	21	15599290	15599290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599290G>A	ENST00000400577.3	+	5	531	c.522G>A	c.(520-522)ctG>ctA	p.L174L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	174							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.453000													69	273					0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075044	145075044	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145075044C>T	ENST00000369345.4	-	2	464	c.250G>A	c.(250-252)Gat>Aat	p.D84N	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCCAGCCATCAGGCAGGGCT	0.502000			T	PDGFRB	MPD								8	57					0	0	0.006214	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206904547	206904547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:206904547C>T	ENST00000367103.3	+	7	1025	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.R278C	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	278	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CATGAAGACTCGCATCCGAAT	0.547000													20	63					0	0	0.010504	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41116252	41116252	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:41116252G>A	ENST00000421990.2	-	7	909	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PTGES3L-AARSD1_ENST00000360221.4_Silent_p.F127F|AARSD1_ENST00000416949.1_5'UTR|AARSD1_ENST00000427569.2_Silent_p.F14F|PTGES3L-AARSD1_ENST00000409103.1_Silent_p.F97F|PTGES3L-AARSD1_ENST00000409399.1_Silent_p.F188F	NM_001136042.2	NP_001129514.2																					CGGTGGTGGTGAACTGAACAG	0.577000													14	31					0	0	0.001855	0	0
OCEL1	79629	broad.mit.edu	37	19	17339098	17339098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17339098G>T	ENST00000215061.4	+	5	696	c.652G>T	c.(652-654)Gag>Tag	p.E218*	OCEL1_ENST00000597836.1_Nonsense_Mutation_p.E162*|OCEL1_ENST00000601529.1_Silent_p.G162G	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	218										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGTTTGGAGGGAGTTTGAGAT	0.527000													35	90					7.11191e-15	7.47609e-15	0.013726	1	0
OAS1	4938	broad.mit.edu	37	12	113355511	113355511	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113355511A>C	ENST00000452357.2	+	5	1234	c.1044A>C	c.(1042-1044)agA>agC	p.R348S	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron|OAS1_ENST00000202917.5_Intron|OAS1_ENST00000445409.2_Intron	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	0					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGCTGGTGAGACCTCCTGCTT	0.527000													9	108					0	0	0.003954	0	0
GNB5	10681	broad.mit.edu	37	15	52416747	52416747	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52416747C>T	ENST00000261837.7	-	12	1164	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	GNB5_ENST00000396335.4_Missense_Mutation_p.E255K|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.E325K	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	367						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ACGCGGTTTTCATGTCCAAAC	0.498000													18	56					0	0	0.006122	0	0
PHRF1	57661	broad.mit.edu	37	11	597514	597514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:597514G>A	ENST00000264555.5	+	8	966	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PHRF1_ENST00000413872.2_Missense_Mutation_p.E279K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E280K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E276K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	280	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGCAGAGTGAGAGAGTGAG	0.662000													5	17					0	0	0.000602	0	0
KDM4C	23081	broad.mit.edu	37	9	7174617	7174617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7174617G>C	ENST00000381309.3	+	22	3624	c.3059G>C	c.(3058-3060)aGa>aCa	p.R1020T	KDM4C_ENST00000428870.2_Missense_Mutation_p.R707T|KDM4C_ENST00000442236.2_Missense_Mutation_p.R765T	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1020					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAAGGGGAGAGAAAGAGACAA	0.458000													142	57					0	0	0.014410	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38148131	38148131	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38148131C>T	ENST00000317025.8	-	17	3497	c.2980G>A	c.(2980-2982)Gac>Aac	p.D994N	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.D994N|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.D945N	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	994	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCCCCCAAGTCATGTTTAAGG	0.473000			T	NUP98	AML								47	161					0	0	0.011902	0	0
CNTN4	152330	broad.mit.edu	37	3	2908608	2908608	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:2908608T>C	ENST00000397461.1	+	7	1011	c.627T>C	c.(625-627)ccT>ccC	p.P209P	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Silent_p.P209P|CNTN4_ENST00000427331.1_Silent_p.P209P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	209					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGGGGCCACCTACACCACTAA	0.388000													38	90					0	0	0.006230	0	0
TBC1D8	11138	broad.mit.edu	37	2	101648738	101648738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:101648738C>T	ENST00000409318.1	-	11	2058	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TBC1D8_ENST00000376840.4_Missense_Mutation_p.R628Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	628	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACCGATCACTCGGTGGTTGAA	0.532000													9	12					0	0	0.004482	0	0
NTN1	9423	broad.mit.edu	37	17	9143161	9143161	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:9143161C>T	ENST00000173229.2	+	7	1798	c.1691C>T	c.(1690-1692)tCt>tTt	p.S564F	NTN1_ENST00000538852.1_Missense_Mutation_p.S564F|NTN1_ENST00000546090.1_Missense_Mutation_p.S564F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	564	NTR.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGGAGGACTCTCCGGACCAG	0.637000													7	3					0	0	0.003080	0	0
APC	324	broad.mit.edu	37	5	112111406	112111406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112111406G>C	ENST00000457016.1	+	5	883	c.503G>C	c.(502-504)aGa>aCa	p.R168T	APC_ENST00000257430.4_Missense_Mutation_p.R168T|APC_ENST00000508376.2_Missense_Mutation_p.R168T			P25054	APC_HUMAN	adenomatous polyposis coli	168	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCACTAAAAGAATAGATAGT	0.289000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			29	57					0	0	0.007291	0	0
KCTD19	146212	broad.mit.edu	37	16	67324826	67324826	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67324826C>G	ENST00000304372.5	-	15	2684	c.2629G>C	c.(2629-2631)Gac>Cac	p.D877H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	877						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGTGCCGGTCATCCTTGAAG	0.607000													5	10					0	0	0.000602	0	0
CPNE2	221184	broad.mit.edu	37	16	57181557	57181557	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57181557C>G	ENST00000535318.2	+	17	1995	c.1634C>G	c.(1633-1635)tCg>tGg	p.S545W	CPNE2_ENST00000565874.1_Missense_Mutation_p.S545W|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Missense_Mutation_p.S545W|CPNE2_ENST00000537605.1_Missense_Mutation_p.S443W			Q96FN4	CPNE2_HUMAN	copine II	545										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCCACCAACTCGGAGCCCGCC	0.602000													8	13					0	0	0.004482	0	0
GNA14	9630	broad.mit.edu	37	9	80262634	80262634	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262634G>A	ENST00000341700.6	-	1	589	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	26					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTGTCCCGACGAAGCTGTCGC	0.657000													3	9					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179641337	179641337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179641337G>A	ENST00000589042.1	-	28	5478	c.5254C>T	c.(5254-5256)Cgt>Tgt	p.R1752C	TTN_ENST00000342992.6_Missense_Mutation_p.R1752C|TTN_ENST00000591111.1_Missense_Mutation_p.R1752C|TTN_ENST00000360870.5_Missense_Mutation_p.R1752C|TTN_ENST00000460472.2_Missense_Mutation_p.R1706C|TTN_ENST00000342175.6_Missense_Mutation_p.R1706C|TTN_ENST00000359218.5_Missense_Mutation_p.R1706C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1505	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCATACGGAGCCTGTTG	0.483000													25	41					0	0	0.002780	0	0
REC8	9985	broad.mit.edu	37	14	24641766	24641766	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24641766T>A	ENST00000311457.3	+	2	604	c.5T>A	c.(4-6)tTc>tAc	p.F2Y	REC8_ENST00000559919.1_Missense_Mutation_p.F2Y			O95072	REC8_HUMAN	REC8 meiotic recombination protein	2					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GGGACAATGTTCTACTATCCC	0.592000													9	7					0	0	0.010729	0	0
KLF11	8462	broad.mit.edu	37	2	10187963	10187963	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10187963C>T	ENST00000535335.1	+	3	664	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	KLF11_ENST00000305883.1_Missense_Mutation_p.P167S|KLF11_ENST00000540845.1_Missense_Mutation_p.P150S	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	167				VVARALS -> QWPDSD (in Ref. 3).	apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCCAGCTCTCCCTGCAGGGC	0.637000													23	79					0	0	0.014323	0	0
RAP2B	5912	broad.mit.edu	37	3	152880887	152880887	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:152880887T>C	ENST00000323534.2	+	1	859	c.405T>C	c.(403-405)gcT>gcC	p.A135A		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	135					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGCCCTGGCTGAGGAGTGGA	0.632000													13	20					0	0	0.003163	0	0
C1orf86	199990	broad.mit.edu	37	1	2125482	2125482	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2125482C>T	ENST00000378545.3	-	3	461	c.462G>A	c.(460-462)ctG>ctA	p.L154L	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378546.4_Silent_p.L51L|C1orf86_ENST00000400919.3_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	51										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GATCCAGGATCAGCTCCGGGC	0.677000													24	58					0	0	0.003330	0	0
KCNC4	3749	broad.mit.edu	37	1	110766114	110766114	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110766114G>A	ENST00000369787.3	+	2	1234	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	KCNC4_ENST00000413138.3_Missense_Mutation_p.E403K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E403K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	403					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTACTACGCTGAGCGCATTGG	0.592000													24	88					0	0	0.002780	0	0
SLC26A6	65010	broad.mit.edu	37	3	48664437	48664437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48664437C>G	ENST00000358747.6	-	17	2132	c.1882G>C	c.(1882-1884)Gac>Cac	p.D628H	SLC26A6_ENST00000383733.3_Missense_Mutation_p.D630H|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D613H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D541H|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D648H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D649H	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCCTTGGAGTCTTCTTGACCA	0.592000													19	107					0	0	0.005443	0	0
GNB1	2782	broad.mit.edu	37	1	1720630	1720630	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1720630C>T	ENST00000378609.4	-	10	1109	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	260					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCATGAGCTCCTGGTCAGCA	0.527000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	31					0	0	0.007835	0	0
SERPINB8	5271	broad.mit.edu	37	18	61647081	61647081	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:61647081C>T	ENST00000397985.2	+	3	471	c.215C>T	c.(214-216)tCa>tTa	p.S72L	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.S72L|SERPINB8_ENST00000397988.3_Missense_Mutation_p.S72L	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	72					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGTTTCCAGTCACTTCTCAGT	0.428000											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	70					0	0	0.004289	0	0
MRP63	78988	broad.mit.edu	37	13	21751241	21751241	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21751241C>T	ENST00000309594.4	+	2	264	c.186C>T	c.(184-186)caC>caT	p.H62H		NM_024026.4	NP_076931.1	Q9BQC6	RT63_HUMAN	mitochondrial ribosomal protein 63	62								p.H62Q(1)		kidney(1)|lung(2)|skin(1)|urinary_tract(1)	5		all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932)		AGCGCGGCCACGCCGCGGTGC	0.642000													5	25					0	0	0.001168	0	0
MAST1	22983	broad.mit.edu	37	19	12958498	12958498	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12958498G>A	ENST00000251472.4	+	6	600	c.561G>A	c.(559-561)ccG>ccA	p.P187P	MAST1_ENST00000591495.1_Silent_p.P183P	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	187					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAGGTTCCCGAAGGTGAGGT	0.672000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	18					0	0	0.008291	0	0
ATAT1	79969	broad.mit.edu	37	6	30594989	30594989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30594989G>A	ENST00000330083.5	+	1	327	c.9G>A	c.(7-9)ttG>ttA	p.L3L	ATAT1_ENST00000318999.7_Intron|ATAT1_ENST00000376485.4_Intron|ATAT1_ENST00000319027.5_Intron|ATAT1_ENST00000376483.4_Intron|ATAT1_ENST00000329992.8_Intron|ATAT1_ENST00000376478.2_Intron|ATAT1_ENST00000468713.1_Intron	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	0							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GGATGTGGTTGACCTGGCCTT	0.532000													6	28					0	0	0.001984	0	0
SPEN	23013	broad.mit.edu	37	1	16259146	16259146	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259146G>A	ENST00000375759.3	+	11	6615	c.6411G>A	c.(6409-6411)ttG>ttA	p.L2137L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2137	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CATCCCAGTTGAAAAGTGATC	0.557000													75	153					0	0	0.014410	0	0
CPED1	79974	broad.mit.edu	37	7	120767150	120767150	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:120767150G>A	ENST00000310396.5	+	10	1608	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CPED1_ENST00000423795.1_Missense_Mutation_p.E161K|CPED1_ENST00000450913.2_Missense_Mutation_p.E381K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AAAGGTACACGAGCATTTAAA	0.289000													14	61					0	0	0.002450	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190696	39190696	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39190696C>T	ENST00000344363.5	-	1	411	c.378G>A	c.(376-378)gtG>gtA	p.V126V		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	136						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTGTGCAGCTCACCACACAGC	0.677000													16	16					0	0	0.004007	0	0
PTAR1	375743	broad.mit.edu	37	9	72349085	72349085	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72349085G>A	ENST00000377200.5	-	2	174	c.172C>T	c.(172-174)Cca>Tca	p.P58S	PTAR1_ENST00000340434.4_Missense_Mutation_p.P137S			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	137					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						CATGTTTCTGGACTCTTTGGA	0.388000													35	40					0	0	0.013726	0	0
UBE2S	27338	broad.mit.edu	37	19	55912936	55912936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55912936G>A	ENST00000264552.9	-	4	724	c.537C>T	c.(535-537)tcC>tcT	p.S179S	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	179					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		CAGGGTCGGTGGAGGAAGCTT	0.711000													3	30					0	0	0.000602	0	0
NRD1	4898	broad.mit.edu	37	1	52344197	52344197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52344197C>T	ENST00000354831.7	-	1	280	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.E31K	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	31					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCCCGCGTTTCGATTCCCCAG	0.612000													6	23					0	0	0.001168	0	0
KIT	3815	broad.mit.edu	37	4	55524236	55524236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:55524236C>T	ENST00000288135.5	+	1	152	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	19					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTACTGCTTCGCGTCCAGAC	0.667000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				11	17					0	0	0.013537	0	0
ABCA12	26154	broad.mit.edu	37	2	215813432	215813432	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215813432G>A	ENST00000272895.7	-	47	7211	c.6992C>T	c.(6991-6993)tCa>tTa	p.S2331L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S2013L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2331	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCAACTAATGAGCTGTGAGA	0.418000													32	63					0	0	0.013726	0	0
FAM132A	388581	broad.mit.edu	37	1	1178268	1178268	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1178268C>G	ENST00000330388.2	-	7	788	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	253						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTTGCTCTCCAGGCCTGAG	0.682000													3	28					0	0	0.009096	0	0
PROM2	150696	broad.mit.edu	37	2	95940393	95940393	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940393G>A	ENST00000317620.9	+	1	193	c.60G>A	c.(58-60)ctG>ctA	p.L20L	PROM2_ENST00000542147.1_Silent_p.L20L|PROM2_ENST00000403131.2_Silent_p.L20L|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Silent_p.L20L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	20						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCTGGCCCTGAGTCAGCTGG	0.677000													10	65					0	0	0.008291	0	0
GFPT2	9945	broad.mit.edu	37	5	179763570	179763570	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179763570C>T	ENST00000253778.8	-	3	292	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	41	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCCCATCGATCGCCACACCTG	0.478000													166	125					0	0	0.014410	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997390	46997390	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46997390C>T	ENST00000599531.1	-	1	2365	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	445										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGACCCCCTTCGTCCTCACGG	0.642000													27	50					0	0	0.009535	0	0
PSMA2	5683	broad.mit.edu	37	7	42964297	42964297	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:42964297C>T	ENST00000538645.1	-	3	289	c.117G>A	c.(115-117)gtG>gtA	p.V39V	PSMA2_ENST00000442788.1_Silent_p.V117V|PSMA2_ENST00000445517.1_Silent_p.V47V|PSMA2_ENST00000223321.4_Silent_p.V117V			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATTCTTGCATCACAGAAGCTA	0.393000													27	131					0	0	0.005443	0	0
SLC5A6	8884	broad.mit.edu	37	2	27430496	27430496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27430496G>T	ENST00000310574.3	-	3	496	c.23C>A	c.(22-24)tCa>tAa	p.S8*	SLC5A6_ENST00000408041.1_Nonsense_Mutation_p.S8*	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	8					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AAGAGGGGCTGAGGTGCTCAC	0.587000													10	57					1.58986e-06	1.6334e-06	0.008291	1	0
PKDREJ	10343	broad.mit.edu	37	22	46654093	46654093	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:46654093C>G	ENST00000253255.5	-	1	5126	c.5127G>C	c.(5125-5127)ctG>ctC	p.L1709L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1709					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACTCAGAAACAGGAGTGCTC	0.403000													9	89					0	0	0.006214	0	0
CCDC151	115948	broad.mit.edu	37	19	11541826	11541826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11541826C>T	ENST00000356392.4	-	2	346	c.259G>A	c.(259-261)Gct>Act	p.A87T	CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Missense_Mutation_p.A87T|CCDC151_ENST00000545100.1_Missense_Mutation_p.A33T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	87										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCAAAAAAAGCCTTCCGGTCA	0.522000													31	132					0	0	0.012213	0	0
C11orf82	220042	broad.mit.edu	37	11	82625788	82625788	+	Missense_Mutation	SNP	G	G	A	rs142883872	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82625788G>A	ENST00000533655.1	+	3	220	c.8G>A	c.(7-9)aGa>aAa	p.R3K	C11orf82_ENST00000430323.2_Missense_Mutation_p.R3K|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525361.1_Missense_Mutation_p.R3K|C11orf82_ENST00000528759.1_Missense_Mutation_p.R3K|C11orf82_ENST00000525388.1_Missense_Mutation_p.R3K|C11orf82_ENST00000524921.1_Missense_Mutation_p.R3K	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	3					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CACATGAACAGAAGACGAAAA	0.398000													10	52					0	0	0.010729	0	0
C15orf39	56905	broad.mit.edu	37	15	75499996	75499996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75499996C>G	ENST00000360639.2	+	2	1927	c.1607C>G	c.(1606-1608)tCa>tGa	p.S536*	C15orf39_ENST00000394987.4_Nonsense_Mutation_p.S536*|C15orf39_ENST00000567617.1_Nonsense_Mutation_p.S536*			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	536			S -> A (in dbSNP:rs28509789).							autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GAGCCTGACTCAGCCCCAGCC	0.617000													6	10					0	0	0.004482	0	0
WDR6	11180	broad.mit.edu	37	3	49050477	49050477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49050477G>A	ENST00000395474.3	+	2	1880	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000608424.1_Missense_Mutation_p.D504N|WDR6_ENST00000448293.1_Missense_Mutation_p.D453N|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	504					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCCCCAGGTGACTTCCTGGT	0.622000													10	36					0	0	0.010729	0	0
ANP32E	81611	broad.mit.edu	37	1	150193049	150193049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150193049G>A	ENST00000314136.8	-	7	1120	c.751C>T	c.(751-753)Cga>Tga	p.R251*	ANP32E_ENST00000369116.4_Nonsense_Mutation_p.R119*|ANP32E_ENST00000369119.3_Nonsense_Mutation_p.R203*|ANP32E_ENST00000436748.2_Nonsense_Mutation_p.R210*|ANP32E_ENST00000369114.5_Nonsense_Mutation_p.R132*|ANP32E_ENST00000369115.2_Nonsense_Mutation_p.R119*|ANP32E_ENST00000533654.1_3'UTR	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	251	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCCCCTCGAAGACCTCCT	0.368000													316	154					0	0	0.014410	0	0
PLEC	5339	broad.mit.edu	37	8	144997136	144997136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144997136C>T	ENST00000322810.4	-	31	7541	c.7372G>A	c.(7372-7374)Gag>Aag	p.E2458K	PLEC_ENST00000527096.1_Missense_Mutation_p.E2344K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2307K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2348K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2321K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2289K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2325K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2321K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2299K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2458	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGTGGCCTCCTGCACCGCC	0.662000													4	9					0	0	0.000602	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542350	3542350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3542350G>A	ENST00000378344.2	+	3	438	c.367G>A	c.(367-369)Gac>Aac	p.D123N	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	123						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CTGTAAATACGACTTCATCAG	0.547000													8	36					0	0	0.003080	0	0
CCDC96	257236	broad.mit.edu	37	4	7044026	7044026	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044026C>T	ENST00000310085.4	-	1	702	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	214	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGACCTCCTCGGACCACTCG	0.637000													30	21					0	0	0.009535	0	0
UBE4B	10277	broad.mit.edu	37	1	10195078	10195078	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10195078T>A	ENST00000377157.3	+	15	2384	c.1323T>A	c.(1321-1323)ttT>ttA	p.F441L	UBE4B_ENST00000253251.8_Missense_Mutation_p.F557L|UBE4B_ENST00000343090.6_Missense_Mutation_p.F686L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	686					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CAGATGGATTTATGCTGAATT	0.338000													21	93					0	0	0.012319	0	0
ZNF256	10172	broad.mit.edu	37	19	58453721	58453721	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58453721C>G	ENST00000282308.3	-	3	651	c.455G>C	c.(454-456)aGa>aCa	p.R152T	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	152					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAACATGTCTCTGCCCCCATT	0.458000													34	100					0	0	0.013726	0	0
NLRP4	147945	broad.mit.edu	37	19	56369323	56369323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:56369323C>A	ENST00000301295.6	+	3	986	c.564C>A	c.(562-564)ttC>ttA	p.F188L	NLRP4_ENST00000587891.1_Missense_Mutation_p.F113L|NLRP4_ENST00000346986.5_Missense_Mutation_p.F188L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	188	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCTATTTCTGCTGCAGAG	0.507000													21	225					1.01871e-10	1.06368e-10	0.008871	1	0
SLC25A33	84275	broad.mit.edu	37	1	9613859	9613859	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:9613859C>T	ENST00000302692.6	+	2	442	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	78					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTCAGGTTCTGAAGTAAGT	0.493000													7	44					0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139648989	139648989	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:139648989T>C	ENST00000303045.6	-	48	3997	c.3551A>G	c.(3550-3552)gAt>gGt	p.D1184G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.D1164G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1184	Collagen-like 11.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTACCTGATCACCTTTCTG	0.413000										HNSCC(7;0.00092)			66	342					0	0	0.014410	0	0
KIAA1432	57589	broad.mit.edu	37	9	5745991	5745991	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:5745991G>A	ENST00000414202.2	+	11	1347	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	KIAA1432_ENST00000251879.6_Missense_Mutation_p.E386K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E307K|KIAA1432_ENST00000381532.2_Missense_Mutation_p.E307K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E307K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	386						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TCAAAACACTGAAATTGAGTC	0.418000													77	86					0	0	0.014410	0	0
TYRO3	7301	broad.mit.edu	37	15	41865267	41865267	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:41865267C>T	ENST00000263798.3	+	16	2167	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S603F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	648	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TACCTGAGCTCTCGGAACTTC	0.572000													43	37					0	0	0.011902	0	0
HPCAL1	3241	broad.mit.edu	37	2	10559935	10559935	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10559935G>A	ENST00000381765.3	+	4	578	c.52G>A	c.(52-54)Gag>Aag	p.E18K	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E18K	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	18							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGACCTGCGGGAGAACACGGA	0.647000													31	10					0	0	0.013726	0	0
C2orf71	388939	broad.mit.edu	37	2	29295005	29295005	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29295005G>C	ENST00000331664.5	-	1	2122	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	708					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACCTCTCCTGATGGGATGGC	0.507000													19	135					0	0	0.010504	0	0
KMT2A	4297	broad.mit.edu	37	11	118348840	118348840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118348840G>A	ENST00000534358.1	+	5	3516	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	KMT2A_ENST00000389506.5_Missense_Mutation_p.E1165K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1165K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.E1165Q(1)									CCAGGTGCCTGAGGACTGTGG	0.498000													50	96					0	0	0.014410	0	0
DSCR9	257203	broad.mit.edu	37	21	38593683	38593683	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:38593683G>A	ENST00000454482.2	+	0	1290					NR_026719.2																						CGAAGAGGATGGGAAAATGCG	0.637000													26	24					0	0	0.003330	0	0
ZNF320	162967	broad.mit.edu	37	19	53384869	53384869	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53384869G>C	ENST00000595635.1	-	8	1011	c.510C>G	c.(508-510)ttC>ttG	p.F170L	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.F170L|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCAACTGAAAACTTTCT	0.358000													15	205					0	0	0.003163	0	0
LAMA3	3909	broad.mit.edu	37	18	21479265	21479265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21479265G>C	ENST00000313654.9	+	47	6091	c.5850G>C	c.(5848-5850)caG>caC	p.Q1950H	LAMA3_ENST00000269217.6_Missense_Mutation_p.Q341H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Intron|LAMA3_ENST00000399516.3_Intron	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1950	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTAAAGCAGATCTCTGGGA	0.458000													11	30					0	0	0.013537	0	0
SC5D	6309	broad.mit.edu	37	11	121174160	121174160	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121174160G>C	ENST00000264027.4	+	2	450	c.76G>C	c.(76-78)Gac>Cac	p.D26H	SC5D_ENST00000392789.2_Missense_Mutation_p.D26H|SC5D_ENST00000534230.1_Missense_Mutation_p.D26H	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		GCCAGAAGATGACATCTTCCG	0.383000													30	56					0	0	0.010818	0	0
NSMAF	8439	broad.mit.edu	37	8	59555592	59555592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:59555592C>A	ENST00000038176.3	-	2	312	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	NSMAF_ENST00000427130.2_Nonsense_Mutation_p.E65*	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	34					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTATGCTGTTCAAAGTAGTAC	0.393000													12	101					3.07112e-06	3.14927e-06	0.010729	1	0
PSD3	23362	broad.mit.edu	37	8	18725265	18725265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:18725265G>C	ENST00000440756.2	-	4	1655	c.1553C>G	c.(1552-1554)tCt>tGt	p.S518C	PSD3_ENST00000523619.1_Missense_Mutation_p.S453C|PSD3_ENST00000327040.8_Missense_Mutation_p.S518C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	518					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GACGCCACTAGAATAGCCCAT	0.527000													21	30					0	0	0.008871	0	0
PAN2	9924	broad.mit.edu	37	12	56722297	56722297	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56722297G>A	ENST00000425394.2	-	3	787	c.411C>T	c.(409-411)ctC>ctT	p.L137L	PAN2_ENST00000257931.5_Silent_p.L137L|PAN2_ENST00000440411.3_Silent_p.L137L|PAN2_ENST00000548043.1_Silent_p.L137L	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	137					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCATATACTTGAGGTTGTTCT	0.488000													54	120					0	0	0.014410	0	0
PELP1	27043	broad.mit.edu	37	17	4577935	4577935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4577935C>T	ENST00000301396.4	-	13	2109	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	PELP1_ENST00000269230.7_Silent_p.G482G|PELP1_ENST00000436683.2_Silent_p.G337G|PELP1_ENST00000574876.1_Silent_p.G484G|PELP1_ENST00000572293.1_Silent_p.G534G			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	484					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCTGCAAACTCCCATCAGGGC	0.577000													15	7					0	0	0.003163	0	0
SEC24B	10427	broad.mit.edu	37	4	110460768	110460768	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110460768G>C	ENST00000265175.5	+	24	3799	c.3744G>C	c.(3742-3744)cgG>cgC	p.R1248R	SEC24B_ENST00000504968.2_Silent_p.R1278R|SEC24B_ENST00000399100.2_Silent_p.R1213R	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1248					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTGAAGACCGGACAGAGGCTG	0.353000													44	24					0	0	0.010771	0	0
ZNF318	24149	broad.mit.edu	37	6	43323779	43323779	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43323779C>T	ENST00000361428.2	-	4	1370	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	ZNF318_ENST00000318149.3_Silent_p.E431E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	431					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGTTTTCAATCTCTGAGGCAA	0.522000													72	84					0	0	0.014410	0	0
KCNT2	343450	broad.mit.edu	37	1	196342316	196342316	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:196342316C>T	ENST00000367433.5	-	14	1458	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.A453T|KCNT2_ENST00000294725.9_Missense_Mutation_p.A453T|KCNT2_ENST00000451324.2_Missense_Mutation_p.A64T|KCNT2_ENST00000367431.4_Missense_Mutation_p.A453T	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	453	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATGTTGCTGGGCATATA	0.284000													31	103					0	0	0.010818	0	0
LENG9	94059	broad.mit.edu	37	19	54973372	54973372	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54973372G>A	ENST00000333834.4	-	1	1522	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	468					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTTCCTGGCTGAGGGTGAACT	0.647000													92	96					0	0	0.014410	0	0
ZNF284	342909	broad.mit.edu	37	19	44585289	44585289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44585289C>T	ENST00000421176.3	+	3	353	c.137C>T	c.(136-138)tCa>tTa	p.S46L	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTGCTATCAGTGGGTGAG	0.517000													48	83					0	0	0.013114	0	0
CAMK1	8536	broad.mit.edu	37	3	9803376	9803376	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9803376G>A	ENST00000256460.3	-	6	672	c.495C>T	c.(493-495)ctC>ctT	p.L165L	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	165	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCATCTTGGAGAGGCCAAAGT	0.602000													40	86					0	0	0.006230	0	0
TBCK	93627	broad.mit.edu	37	4	107154786	107154786	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107154786C>T	ENST00000273980.5	-	17	1918	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	TBCK_ENST00000394706.3_Missense_Mutation_p.D452N|TBCK_ENST00000361687.4_Missense_Mutation_p.D428N|TBCK_ENST00000394708.2_Missense_Mutation_p.D491N|TBCK_ENST00000432496.2_Missense_Mutation_p.D491N			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCAATTGCATCGTACTTGGCA	0.269000													17	21					0	0	0.008871	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670814	32670814	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32670814G>A	ENST00000373602.5	+	6	915	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CCDC28B_ENST00000483009.1_3'UTR|CCDC28B_ENST00000421922.2_3'UTR|RP4-622L5.7_ENST00000373604.4_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	190										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCACCTGGCCGAGAACGCCGA	0.607000													4	16					0	0	0.009096	0	0
VSIG10	54621	broad.mit.edu	37	12	118511775	118511775	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:118511775C>T	ENST00000359236.5	-	5	1224	c.948G>A	c.(946-948)gaG>gaA	p.E316E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	316	Ig-like C2-type 4.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TCTTCATGGGCTCAGAGAGAA	0.527000													17	23					0	0	0.004990	0	0
CCDC142	84865	broad.mit.edu	37	2	74709391	74709391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74709391C>T	ENST00000393965.3	-	1	970	c.574G>A	c.(574-576)Gag>Aag	p.E192K	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.E192K	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	192										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTGGCGGGCTCCCGGCCGAGA	0.667000													6	9					0	0	0.001168	0	0
AFTPH	54812	broad.mit.edu	37	2	64796344	64796344	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:64796344C>T	ENST00000422803.1	+	4	2520	c.2206C>T	c.(2206-2208)Cga>Tga	p.R736*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.R736*|AFTPH_ENST00000409183.1_Nonsense_Mutation_p.R367*|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.R736*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.R736*			Q6ULP2	AFTIN_HUMAN	aftiphilin	736					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAGACACCCGAAACATTGT	0.418000													21	138					0	0	0.012319	0	0
UBR2	23304	broad.mit.edu	37	6	42532121	42532121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42532121G>T	ENST00000372901.1	+	1	322	c.64G>T	c.(64-66)Gag>Tag	p.E22*	UBR2_ENST00000372899.1_Nonsense_Mutation_p.E22*|UBR2_ENST00000372903.2_Nonsense_Mutation_p.E22*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	22					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGTTCGGCCGAGGAGATTGC	0.697000													9	7					2.17888e-05	2.22698e-05	0.006214	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209190606	209190606	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:209190606G>A	ENST00000264380.4	+	20	3229	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1024					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGACACTGGATTATATGTT	0.443000													50	15					0	0	0.014410	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377710	113377710	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113377710G>A	ENST00000316407.4	-	7	3229	c.2819C>T	c.(2818-2820)tCa>tTa	p.S940L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.S940L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	940					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TACATTGGCTGAAGCGCAGGG	0.418000													127	123					0	0	0.014410	0	0
GNG4	2786	broad.mit.edu	37	1	235747078	235747078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747078C>T	ENST00000391854.2	-	3	514	c.61G>A	c.(61-63)Gag>Aag	p.E21K	GNG4_ENST00000450593.1_Missense_Mutation_p.E21K|GNG4_ENST00000366598.4_Missense_Mutation_p.E21K|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Missense_Mutation_p.E21K	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	21					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TTTAGCTGCTCCACAGCTTTC	0.507000													89	76					0	0	0.014410	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785654	1785654	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1785654C>G	ENST00000539485.1	-	26	3470	c.3237G>C	c.(3235-3237)caG>caC	p.Q1079H	ATP8B3_ENST00000310127.6_Missense_Mutation_p.Q1069H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.Q1032H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1069					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCGTCCTTCTGCCCCACCA	0.607000													12	8					0	0	0.013537	0	0
ANP32A	8125	broad.mit.edu	37	15	69080226	69080226	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69080226C>T	ENST00000465139.2	-	2	230	c.87G>A	c.(85-87)tcG>tcA	p.S29S	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.S29S	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	29					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TGCCTTCATTCGACCGACTGT	0.502000													37	112					0	0	0.007835	0	0
PAQR7	164091	broad.mit.edu	37	1	26190213	26190213	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26190213G>A	ENST00000374296.3	-	2	784	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	40					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAGAGCGGCGGCACCTCA	0.622000													15	28					0	0	0.004990	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540505	94540505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:94540505G>A	ENST00000289495.5	+	1	1296	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	PPP1R9A_ENST00000424654.1_Silent_p.Q360Q|PPP1R9A_ENST00000340694.4_Silent_p.Q360Q|PPP1R9A_ENST00000456331.2_Silent_p.Q360Q|PPP1R9A_ENST00000433881.1_Silent_p.Q360Q|PPP1R9A_ENST00000433360.1_Silent_p.Q360Q	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	360						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAGCAACAGAGGAAAGAAC	0.438000										HNSCC(28;0.073)			34	26					0	0	0.012213	0	0
ACSS3	79611	broad.mit.edu	37	12	81536974	81536974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:81536974C>T	ENST00000548058.1	+	5	1779	c.869C>T	c.(868-870)tCa>tTa	p.S290L	ACSS3_ENST00000261206.3_Missense_Mutation_p.S289L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	290						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTGTTCTTTCAGAACACCCA	0.453000													97	20					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24883866	24883866	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24883866G>A	ENST00000382554.3	+	9	3229	c.2911G>A	c.(2911-2913)Gtc>Atc	p.V971I	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	971					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCAGCCAGTGTCACTGAGCT	0.557000													9	16					0	0	0.013537	0	0
NUP88	4927	broad.mit.edu	37	17	5322772	5322772	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322772C>G	ENST00000573584.1	-	1	708	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	67					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						AGGAAAAGCTCTCCGCCGAGG	0.632000													37	41					0	0	0.006999	0	0
CHST14	113189	broad.mit.edu	37	15	40764104	40764104	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40764104G>A	ENST00000306243.5	+	1	945	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	CHST14_ENST00000559991.1_Missense_Mutation_p.R206Q	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	231					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGAGATCCGAGAGTACCAG	0.597000													42	95					0	0	0.014410	0	0
PTPLA	9200	broad.mit.edu	37	10	17641359	17641359	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:17641359C>T	ENST00000361271.3	-	5	572	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	179					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CGAGTGATCTCTGTCACAGTC	0.443000													17	31					0	0	0.007413	0	0
TAS1R2	80834	broad.mit.edu	37	1	19186032	19186032	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19186032G>C	ENST00000375371.3	-	1	144	c.123C>G	c.(121-123)ctC>ctG	p.L41L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	41					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTTGGCATGGAGGGAGAAGA	0.582000													43	45					0	0	0.007835	0	0
F2	2147	broad.mit.edu	37	11	46749600	46749600	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46749600C>T	ENST00000311907.5	+	10	1241	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	F2_ENST00000530231.1_Silent_p.L395L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	395	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGGCCAGCCTCATCAGTGACC	0.627000													4	12					0	0	0.009096	0	0
SRRM2	23524	broad.mit.edu	37	16	2819183	2819183	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2819183C>G	ENST00000301740.8	+	12	8468	c.7919C>G	c.(7918-7920)tCt>tGt	p.S2640C	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2640	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tcctcctcatcttcctcctcc	0.592000													41	41					0	0	0.006230	0	0
SF1	7536	broad.mit.edu	37	11	64536954	64536954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64536954G>A	ENST00000377390.3	-	6	944	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	SF1_ENST00000377387.1_Missense_Mutation_p.L328F|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.L203F|SF1_ENST00000334944.5_Missense_Mutation_p.L203F|SF1_ENST00000377394.3_Missense_Mutation_p.L203F|SF1_ENST00000422298.2_Missense_Mutation_p.L88F|SF1_ENST00000433274.2_Missense_Mutation_p.L177F	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	203	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGGCATGAAGTGGCTCATCT	0.522000													141	243					0	0	0.014410	0	0
MYBPC3	4607	broad.mit.edu	37	11	47354825	47354825	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47354825G>A	ENST00000545968.1	-	30	3304	c.3250C>T	c.(3250-3252)Ctg>Ttg	p.L1084L	MYBPC3_ENST00000256993.4_Silent_p.L1083L|MYBPC3_ENST00000399249.2_Silent_p.L1084L	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1083	Fibronectin type-III 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTCCACTCCAGAGCCACATTA	0.617000													7	1					0	0	0.003080	0	0
ANAPC1	64682	broad.mit.edu	37	2	112550062	112550062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112550062G>A	ENST00000341068.3	-	38	5361	c.4589C>T	c.(4588-4590)tCa>tTa	p.S1530L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1530					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGGTTTCCTGAGCCAGCCAT	0.483000													12	45					0	0	0.004007	0	0
ATIC	471	broad.mit.edu	37	2	216200791	216200791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:216200791G>A	ENST00000435675.1	+	10	1430	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	ATIC_ENST00000540518.1_Missense_Mutation_p.E289K|ATIC_ENST00000236959.9_Missense_Mutation_p.E348K			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	348					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGATATGAAGAAGAAGCCTT	0.313000			T	ALK	ALCL								64	91					0	0	0.014410	0	0
CCDC66	285331	broad.mit.edu	37	3	56627024	56627024	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56627024C>T	ENST00000394672.3	+	8	1033	c.963C>T	c.(961-963)ttC>ttT	p.F321F	CCDC66_ENST00000326595.7_Silent_p.F287F|CCDC66_ENST00000436465.2_Silent_p.F321F	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	321										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGCACCCTTTCAGTGCTGTGA	0.343000													49	147					0	0	0.014410	0	0
CCND1	595	broad.mit.edu	37	11	69458749	69458749	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:69458749C>T	ENST00000227507.2	+	3	791	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	188				L -> S (in Ref. 3; AAA52136).	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCGTTGCCCTCTGTGCCACAG	0.617000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			14	12					0	0	0.002450	0	0
BLNK	29760	broad.mit.edu	37	10	97964290	97964290	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97964290C>T	ENST00000224337.5	-	12	1041	c.900G>A	c.(898-900)caG>caA	p.Q300Q	BLNK_ENST00000427367.2_Silent_p.Q300Q|BLNK_ENST00000413476.2_Silent_p.Q300Q|BLNK_ENST00000371176.2_Silent_p.Q277Q	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	300					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATTCTTACTTCTGGGCAGGAG	0.448000													46	69					0	0	0.014410	0	0
FAM134B	54463	broad.mit.edu	37	5	16475032	16475032	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16475032G>C	ENST00000306320.9	-	9	1398	c.1312C>G	c.(1312-1314)Cag>Gag	p.Q438E	FAM134B_ENST00000399793.2_Missense_Mutation_p.Q297E	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	438					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GGGGCAGCCTGAGAAAGTGCT	0.498000													18	55					0	0	0.007413	0	0
MORN5	254956	broad.mit.edu	37	9	124922195	124922195	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:124922195G>A	ENST00000373764.3	+	0	6					NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTGTCATAGTGATGCCGTATC	0.552000													11	39					0	0	0.008291	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871770	12871770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:12871770C>T	ENST00000228872.4	+	2	1203	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	163					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTCTTCTACTCAAAACAAAAG	0.448000													72	33					0	0	0.014410	0	0
MAP3K15	389840	broad.mit.edu	37	X	19413274	19413274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:19413274G>A	ENST00000338883.4	-	16	2118	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R142C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R539C|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	707	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACGATATTGCGGTGCTTAAGG	0.507000													41	64					0	0	0.007835	0	0
MGME1	92667	broad.mit.edu	37	20	17950541	17950541	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17950541C>G	ENST00000377710.5	+	2	327	c.39C>G	c.(37-39)ctC>ctG	p.L13L	MGME1_ENST00000377704.4_Silent_p.L13L|MGME1_ENST00000377709.1_Silent_p.L13L	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		GCAGGCAGCTCAGGAGTTCAA	0.408000													20	83					0	0	0.012319	0	0
NAF1	92345	broad.mit.edu	37	4	164087539	164087539	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:164087539G>A	ENST00000274054.2	-	1	534	c.341C>T	c.(340-342)tCg>tTg	p.S114L	NAF1_ENST00000422287.2_Missense_Mutation_p.S114L	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	114	Ser-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCCGAGTCCGAGGTCTCCAA	0.706000													12	10					0	0	0.013537	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670468	55670468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55670468G>A	ENST00000527223.2	-	12	1790	c.1789C>T	c.(1789-1791)Ccg>Tcg	p.P597S	DNAAF3_ENST00000455045.1_Missense_Mutation_p.P476S|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P577S|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000524407.2_Missense_Mutation_p.P530S|CTD-2587H24.4_ENST00000587871.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	530																	CAGTTGGGCGGAGCCAAGGCC	0.587000													52	31					0	0	0.014410	0	0
TMEM237	65062	broad.mit.edu	37	2	202494121	202494121	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:202494121C>G	ENST00000409444.2	-	9	994	c.677G>C	c.(676-678)gGa>gCa	p.G226A	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Missense_Mutation_p.G234A	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	258						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						AGCCAAGAATCCATGAGAAAA	0.358000													6	4					0	0	0.001168	0	0
RYR3	6263	broad.mit.edu	37	15	33941338	33941338	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33941338G>T	ENST00000389232.4	+	31	4114	c.4044G>T	c.(4042-4044)gtG>gtT	p.V1348V	RYR3_ENST00000415757.3_Silent_p.V1348V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1348	4 X approximate repeats.|B30.2/SPRY 3.				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)		TCGGATGGGTGACTCCAGACT	0.532000													29	118					3.73988e-18	3.95816e-18	0.006320	1	0
MUC3A	4584	broad.mit.edu	37	7	100549546	100549546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100549546G>C	ENST00000379458.4	+	2	127	c.127G>C	c.(127-129)Gtg>Ctg	p.V43L	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGCCAGCGCTGTGCTCAGCAA	0.582000													21	92					0	0	0.002780	0	0
TMEM62	80021	broad.mit.edu	37	15	43476562	43476562	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43476562G>A	ENST00000260403.2	+	14	1989	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	EPB42_ENST00000563128.1_Intron|RP11-473C18.3_ENST00000565685.1_RNA|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	570						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GAAAATACTTGAAAATTATGC	0.418000													146	156					0	0	0.014410	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427346	27427346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27427346G>C	ENST00000310574.3	-	9	1461	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.Q330E	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	330					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GGGGCTGCCTGAGCCTGCTGA	0.587000													14	73					0	0	0.002450	0	0
CREB3	10488	broad.mit.edu	37	9	35732998	35732998	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:35732998G>A	ENST00000353704.2	+	2	573	c.135G>A	c.(133-135)ccG>ccA	p.P45P	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	45	Transcription activation (acidic).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGCAGGTACCGAGCGACTGGG	0.562000													79	38					0	0	0.014410	0	0
ZNF429	353088	broad.mit.edu	37	19	21719352	21719352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21719352G>C	ENST00000358491.4	+	4	705	c.497G>C	c.(496-498)aGa>aCa	p.R166T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TACAAGACAAGACATACTGGA	0.313000													7	54					0	0	0.001984	0	0
TRABD	80305	broad.mit.edu	37	22	50635718	50635718	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:50635718G>A	ENST00000303434.4	+	6	588	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TRABD_ENST00000380909.4_Missense_Mutation_p.A157T|TRABD_ENST00000395829.1_Missense_Mutation_p.A157T|TRABD_ENST00000395827.1_Missense_Mutation_p.A157T	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	157										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAAGGTGTCTGCACACATCAC	0.662000													11	37					0	0	0.008291	0	0
DTNB	1838	broad.mit.edu	37	2	25705718	25705718	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25705718C>T	ENST00000406818.3	-	10	1275	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	DTNB_ENST00000496972.2_Missense_Mutation_p.M285I|DTNB_ENST00000407038.3_Missense_Mutation_p.M342I|DTNB_ENST00000407661.3_Missense_Mutation_p.M342I|DTNB_ENST00000288642.8_Missense_Mutation_p.M342I|DTNB_ENST00000405222.1_Missense_Mutation_p.M342I|DTNB_ENST00000545439.1_Missense_Mutation_p.M138I|DTNB_ENST00000407186.1_Missense_Mutation_p.M342I|DTNB_ENST00000404103.3_Missense_Mutation_p.M342I	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	342						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGTCATTCATATTAGTCA	0.468000													45	29					0	0	0.014410	0	0
STAT5B	6777	broad.mit.edu	37	17	40384031	40384031	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40384031C>G	ENST00000293328.3	-	2	283	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	39					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GCTTGGCTTTCAATCCACTGG	0.423000													50	55					0	0	0.014410	0	0
C5orf15	56951	broad.mit.edu	37	5	133295697	133295697	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:133295697C>T	ENST00000231512.3	-	2	356	c.154G>A	c.(154-156)Gat>Aat	p.D52N	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	52						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CTCGGTGAATCAGTCCGTGAT	0.368000													19	32					0	0	0.010504	0	0
ITPR2	3709	broad.mit.edu	37	12	26943129	26943129	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26943129C>T	ENST00000381340.3	-	2	540	c.124G>A	c.(124-126)Gag>Aag	p.E42K	ITPR2_ENST00000242737.5_Missense_Mutation_p.E42K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	42					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCCCCGGCCTCTGGGTGCACC	0.408000													13	34					0	0	0.002450	0	0
FGL1	2267	broad.mit.edu	37	8	17722196	17722196	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17722196C>T	ENST00000398056.2	-	10	1659	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	FGL1_ENST00000398054.1_Missense_Mutation_p.G282R|FGL1_ENST00000381840.2_Missense_Mutation_p.G282R|FGL1_ENST00000381841.2_Missense_Mutation_p.G282R|FGL1_ENST00000518650.1_Missense_Mutation_p.G282R|FGL1_ENST00000522444.1_Missense_Mutation_p.G282R|FGL1_ENST00000427924.1_Missense_Mutation_p.G282R			Q08830	FGL1_HUMAN	fibrinogen-like 1	282	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CAGACAATCCCATTGTCTGTT	0.403000													11	10					0	0	0.010729	0	0
FCRL4	83417	broad.mit.edu	37	1	157550118	157550118	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:157550118C>T	ENST00000271532.1	-	8	1405	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	424						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CACCTGGTTTCGTCTCCCAAG	0.413000													202	80					0	0	0.014410	0	0
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48605373C>T	ENST00000537810.1	-	12	1471	c.867G>A	c.(865-867)ttG>ttA	p.L289L	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000507711.1_Silent_p.L289L|FRYL_ENST00000503238.1_Silent_p.L289L|FRYL_ENST00000358350.4_Silent_p.L289L			O94915	FRYL_HUMAN	FRY-like	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289000													41	63					0	0	0.006999	0	0
GPCPD1	56261	broad.mit.edu	37	20	5556510	5556510	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5556510G>C	ENST00000379019.4	-	9	1032	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	274					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATGATGGGAAGAGTAAGAATT	0.438000													31	130					0	0	0.008361	0	0
NRIP1	8204	broad.mit.edu	37	21	16339706	16339706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16339706G>A	ENST00000400202.1	-	3	1520	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	NRIP1_ENST00000318948.4_Silent_p.L270L|NRIP1_ENST00000400199.1_Silent_p.L270L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	270	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCGCTTGACAGAAGTAATGCT	0.463000													68	122					0	0	0.014410	0	0
CCDC19	25790	broad.mit.edu	37	1	159842861	159842861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:159842861C>T	ENST00000426543.2	-	11	1650	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E484K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	484						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTGGTTCTCGCGCACCTGG	0.602000													28	94					0	0	0.008361	0	0
BCHE	590	broad.mit.edu	37	3	165548500	165548500	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:165548500C>G	ENST00000264381.3	-	2	488	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	108					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCCACATCTCTGATCCATGG	0.393000													64	41					0	0	0.014410	0	0
MMS22L	253714	broad.mit.edu	37	6	97626329	97626329	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97626329C>G	ENST00000275053.4	-	18	2934	c.2669G>C	c.(2668-2670)cGa>cCa	p.R890P	MMS22L_ENST00000369251.2_Missense_Mutation_p.R850P	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	890					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.R890Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTCAAAGAATCGAACAAGTGC	0.274000													16	117					0	0	0.004990	0	0
FOXP1	27086	broad.mit.edu	37	3	71037150	71037150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:71037150G>A	ENST00000318789.4	-	14	1666	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q305*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q381*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q383*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	381					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTTACGGGCTGAGGGGCGGCT	0.493000			T	PAX5	ALL								69	194					0	0	0.014410	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269661	16269661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269661G>A	ENST00000375733.2	-	13	1964	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y	ZBTB17_ENST00000537142.1_Missense_Mutation_p.H494Y|ZBTB17_ENST00000375743.4_Missense_Mutation_p.H576Y			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	576					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGAATATGATTGGCCAAC	0.587000													29	128					0	0	0.012213	0	0
CCDC40	55036	broad.mit.edu	37	17	78039319	78039319	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:78039319G>C	ENST00000397545.4	+	10	1503	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	CCDC40_ENST00000374877.3_Missense_Mutation_p.K492N|CCDC40_ENST00000269318.5_Missense_Mutation_p.K492N|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	492					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCGTGGAGAAGAGGCGCATCA	0.632000													14	54					0	0	0.001855	0	0
OSBPL8	114882	broad.mit.edu	37	12	76788453	76788453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:76788453C>T	ENST00000261183.3	-	9	1208	c.729G>A	c.(727-729)ttG>ttA	p.L243L	OSBPL8_ENST00000393250.4_Silent_p.L201L|OSBPL8_ENST00000393249.2_Silent_p.L201L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	243	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTCGGATGATCAAATAACTGC	0.323000													31	39					0	0	0.003271	0	0
RANBP2	5903	broad.mit.edu	37	2	109383083	109383083	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109383083G>A	ENST00000283195.6	+	20	6214	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2030	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACAGGAGAAGAAGATGAAAA	0.388000													134	630					0	0	0.014410	0	0
CST1	1469	broad.mit.edu	37	20	23728490	23728490	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:23728490C>G	ENST00000304749.2	-	3	459	c.389G>C	c.(388-390)aGa>aCa	p.R130T	CST1_ENST00000398402.1_Missense_Mutation_p.R130T	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	130						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGACCTTCTGTTCTCCCA	0.542000													13	41					0	0	0.001855	0	0
NDST2	8509	broad.mit.edu	37	10	75567514	75567514	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75567514G>C	ENST00000603027.1	-	3	1256	c.633C>G	c.(631-633)ctC>ctG	p.L211L	NDST2_ENST00000309979.6_Silent_p.L211L|NDST2_ENST00000299641.4_Silent_p.L88L						211																	TGGGGCGTGTGAGATGCAGTA	0.552000													9	42					0	0	0.004482	0	0
ASH2L	9070	broad.mit.edu	37	8	37974186	37974186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37974186C>T	ENST00000343823.6	+	8	1105	c.796C>T	c.(796-798)Cct>Tct	p.P266S	ASH2L_ENST00000250635.7_Missense_Mutation_p.P172S|ASH2L_ENST00000545394.1_Missense_Mutation_p.P127S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P172S|ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000428278.2_Missense_Mutation_p.P172S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	266					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TAACATTGGTCCTGCTTATGA	0.353000													31	43					0	0	0.013726	0	0
DGKI	9162	broad.mit.edu	37	7	137262020	137262020	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:137262020G>C	ENST00000453654.2	-	17	1348	c.809C>G	c.(808-810)tCt>tGt	p.S270C	DGKI_ENST00000446122.1_Missense_Mutation_p.S570C|DGKI_ENST00000424189.2_Missense_Mutation_p.S570C|DGKI_ENST00000288490.5_Missense_Mutation_p.S570C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TAGGAAGTCAGAAAAAGCTGC	0.328000													3	26					0	0	0.004672	0	0
CPLX2	10814	broad.mit.edu	37	5	175306917	175306917	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:175306917G>C	ENST00000359546.4	+	5	917	c.274G>C	c.(274-276)Ggg>Cgg	p.G92R	CPLX2_ENST00000393745.3_Missense_Mutation_p.G92R|CPLX2_ENST00000515094.1_Missense_Mutation_p.G92R	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	92	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCCTGCGAGGGGAGCCTGAC	0.642000													5	17					0	0	0.001168	0	0
ATG9A	79065	broad.mit.edu	37	2	220085580	220085580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220085580G>A	ENST00000409618.1	-	15	2842	c.2403C>T	c.(2401-2403)ttC>ttT	p.F801F	ATG9A_ENST00000361242.4_Silent_p.F801F|ATG9A_ENST00000396761.2_Silent_p.F801F|ATG9A_ENST00000409422.1_Silent_p.F740F			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	801					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCGAGAGAAATGAGAGG	0.582000													15	49					0	0	0.004990	0	0
RARG	5916	broad.mit.edu	37	12	53607344	53607344	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53607344G>A	ENST00000425354.2	-	8	1441	c.954C>T	c.(952-954)ctC>ctT	p.L318L	RARG_ENST00000327550.3_Silent_p.L246L|RARG_ENST00000394426.1_Silent_p.L318L|RARG_ENST00000338561.5_Silent_p.L307L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Silent_p.L296L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	318	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGGGGCAGGAGCTGCCCAG	0.652000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	27					0	0	0.003330	0	0
PVRL2	5819	broad.mit.edu	37	19	45391385	45391385	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45391385G>C	ENST00000252483.5	+	9	1366	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	456					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCGATACCATGAGCTGCCCAC	0.572000													18	77					0	0	0.007413	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082533	73082533	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:73082533G>A	ENST00000373189.5	+	2	74	c.22G>A	c.(22-24)Gac>Aac	p.D8N		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	8					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCAGAGGACGACTTTCAGCA	0.597000													22	85					0	0	0.002780	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202334	9202334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:9202334G>A	ENST00000382496.5	-	9	1330	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	222	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGTCATAAGATGACACAAA	0.418000													15	29					0	0	0.003163	0	0
MARK3	4140	broad.mit.edu	37	14	103969477	103969477	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103969477G>T	ENST00000429436.2	+	18	2685	c.2175G>T	c.(2173-2175)ctG>ctT	p.L725L	MARK3_ENST00000303622.9_Silent_p.L701L|MARK3_ENST00000335102.5_Silent_p.L748L|MARK3_ENST00000553942.1_Silent_p.L716L|MARK3_ENST00000440884.3_Silent_p.L631L|MARK3_ENST00000416682.2_Silent_p.L724L|MARK3_ENST00000216288.7_Silent_p.L685L	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	725	KA1.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GACTGTCTCTGAACGGGGTCC	0.512000													15	36					3.52763e-06	3.6157e-06	0.004990	1	0
MEA1	4201	broad.mit.edu	37	6	42981053	42981053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42981053C>T	ENST00000244711.3	-	2	257	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	35					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			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)			CCCAGTTCCTCAGTCTGATTG	0.607000													28	157					0	0	0.008361	0	0
CRISP3	10321	broad.mit.edu	37	6	49700942	49700942	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49700942G>C	ENST00000433368.2	-	6	625	c.556C>G	c.(556-558)Cta>Gta	p.L186V	CRISP3_ENST00000263045.4_Missense_Mutation_p.L176V|CRISP3_ENST00000393666.1_Missense_Mutation_p.L163V|CRISP3_ENST00000423399.2_Missense_Mutation_p.L73V|CRISP3_ENST00000371159.4_Missense_Mutation_p.L194V	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	163					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGTATTTTAGAACTTTTTGA	0.303000													40	161					0	0	0.006230	0	0
UTRN	7402	broad.mit.edu	37	6	144759888	144759888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144759888G>A	ENST00000367545.3	+	11	1249	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	417	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCTGCACGATGTGCTGAT	0.517000													30	79					0	0	0.009535	0	0
CCT3	7203	broad.mit.edu	37	1	156280783	156280783	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156280783C>T	ENST00000295688.3	-	12	1639	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	CCT3_ENST00000368259.2_Silent_p.Q415Q|CCT3_ENST00000368261.3_Silent_p.Q408Q|CCT3_ENST00000472765.2_Silent_p.Q408Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	453					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCCCACAGTTCTGGATCAGGG	0.537000													11	116					0	0	0.010729	0	0
TLL2	7093	broad.mit.edu	37	10	98144396	98144396	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98144396G>A	ENST00000357947.3	-	16	2367	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	714	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTCGGACTTGAACTCCACGC	0.637000													29	83					0	0	0.009535	0	0
PANK2	80025	broad.mit.edu	37	20	3891268	3891268	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3891268G>A	ENST00000497424.1	+	3	464	c.153G>A	c.(151-153)ttG>ttA	p.L51L	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000316562.4_Silent_p.L342L|PANK2_ENST00000610179.1_Silent_p.L219L	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	342					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGATTGCTTGATCAAAGGAA	0.353000													71	116					0	0	0.014410	0	0
PPP1R10	5514	broad.mit.edu	37	6	30574287	30574287	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30574287G>C	ENST00000376511.2	-	8	1144	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	198	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGGTGCGAAGAGACTTGGGC	0.577000													16	72					0	0	0.007413	0	0
RHBDL2	54933	broad.mit.edu	37	1	39352269	39352269	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39352269C>T	ENST00000289248.2	-	8	1827	c.819G>A	c.(817-819)ctG>ctA	p.L273L	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Silent_p.L340L|RHBDL2_ENST00000372990.1_Silent_p.L273L|RHBDL2_ENST00000372985.3_Silent_p.L353L			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	273			L -> M (in dbSNP:rs2147914).		proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTGGATCTTTCAGCAGTGCTT	0.433000													28	94					0	0	0.006320	0	0
PUSL1	126789	broad.mit.edu	37	1	1244841	1244841	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1244841C>T	ENST00000379031.5	+	4	408	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	111					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGGGTCCTGCGGGCCTTCCG	0.672000													6	5					0	0	0.001984	0	0
GRIA3	2892	broad.mit.edu	37	X	122561889	122561889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122561889G>C	ENST00000264357.5	+	12	2267	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	GRIA3_ENST00000542149.1_Missense_Mutation_p.E659Q|GRIA3_ENST00000371251.1_Missense_Mutation_p.E659Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.E659Q	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	659					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CCTGACTGTGGAGAGGATGGT	0.463000													51	24					0	0	0.014410	0	0
TMEM79	84283	broad.mit.edu	37	1	156256052	156256052	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156256052G>A	ENST00000405535.2	+	3	930	c.759G>A	c.(757-759)ggG>ggA	p.G253G	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Splice_Site_p.G253G|TMEM79_ENST00000357501.2_Splice_Site_p.D15N	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	253						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TCCACCCAGGGATCCTGGTGT	0.612000													26	105					0	0	0.003954	0	0
RTN4	57142	broad.mit.edu	37	2	55252388	55252388	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55252388G>C	ENST00000337526.6	-	3	3090	c.2847C>G	c.(2845-2847)ctC>ctG	p.L949L	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Silent_p.L743L|RTN4_ENST00000404909.1_Silent_p.L743L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Silent_p.L717L|RTN4_ENST00000357376.3_Silent_p.L743L|RTN4_ENST00000405240.1_Silent_p.L743L|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	949					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GAGGCAATAAGAGCACCTTTG	0.393000													94	92					0	0	0.014410	0	0
C11orf30	56946	broad.mit.edu	37	11	76255317	76255317	+	Silent	SNP	C	C	T	rs146751469		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:76255317C>T	ENST00000529032.1	+	18	2724	c.2724C>T	c.(2722-2724)caC>caT	p.H908H	C11orf30_ENST00000334736.3_Silent_p.H908H|C11orf30_ENST00000343878.3_Silent_p.H908H|C11orf30_ENST00000524767.1_Silent_p.H923H|C11orf30_ENST00000524490.1_Silent_p.H810H|C11orf30_ENST00000525919.1_Silent_p.H909H|C11orf30_ENST00000525038.1_Silent_p.H909H|C11orf30_ENST00000533248.1_Silent_p.H817H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	908					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TAAGCAGTCACACTGCTTTTA	0.403000													17	41					0	0	0.004990	0	0
MB21D1	115004	broad.mit.edu	37	6	74150017	74150017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:74150017C>T	ENST00000370315.3	-	3	1123	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	MB21D1_ENST00000370318.1_Nonsense_Mutation_p.W343*	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	343										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTGCTGAAAGCCAGTTTTGAA	0.393000													49	93					0	0	0.014410	0	0
BCAR3	8412	broad.mit.edu	37	1	94048275	94048275	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94048275G>A	ENST00000370244.1	-	9	1557	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	BCAR3_ENST00000370243.1_Silent_p.L423L|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000260502.6_Silent_p.L423L|BCAR3_ENST00000370247.3_Silent_p.L332L|BCAR3_ENST00000539242.1_Silent_p.L99L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	423					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTCTGAGTTGAGCCAGGCAG	0.607000													20	47					0	0	0.008871	0	0
FGFR2	2263	broad.mit.edu	37	10	123325072	123325072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123325072C>T	ENST00000358487.5	-	3	528	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.V86M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.V86M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V86M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V86M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Missense_Mutation_p.V86M|FGFR2_ENST00000457416.2_Missense_Mutation_p.V86M|FGFR2_ENST00000359354.2_Missense_Mutation_p.V86M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	86	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCAATAAGCACTGTCCTATTG	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				26	80					0	0	0.005443	0	0
STEAP2	261729	broad.mit.edu	37	7	89854699	89854699	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:89854699G>C	ENST00000287908.3	+	2	696	c.303G>C	c.(301-303)ctG>ctC	p.L101L	STEAP2_ENST00000394632.1_Silent_p.L101L|STEAP2_ENST00000394626.1_Silent_p.L101L|STEAP2_ENST00000394621.2_Silent_p.L101L|STEAP2_ENST00000394629.2_Silent_p.L101L|STEAP2_ENST00000394622.2_Silent_p.L101L|STEAP2_ENST00000402625.2_Silent_p.L101L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	101					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATACCTCCCTGTGGGACCTGA	0.378000													45	158					0	0	0.011902	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758693	121758693	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:121758693G>A	ENST00000261367.7	+	6	1830	c.402G>A	c.(400-402)gaG>gaA	p.E134E	SNCAIP_ENST00000379536.2_Silent_p.E87E|SNCAIP_ENST00000261368.8_Silent_p.E87E|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Silent_p.E134E|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Silent_p.E134E			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	87					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCAGCCAGAGACTCTGGAGA	0.507000													17	35					0	0	0.004990	0	0
SLFN11	91607	broad.mit.edu	37	17	33690544	33690544	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33690544C>T	ENST00000394566.1	-	4	555	c.283G>A	c.(283-285)Gag>Aag	p.E95K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E95K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	95						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTTGGTCTCAAAGAAAGCC	0.473000													56	60					0	0	0.014410	0	0
CLPP	8192	broad.mit.edu	37	19	6364487	6364487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6364487C>T	ENST00000245816.4	+	4	515	c.392C>T	c.(391-393)gCc>gTc	p.A131V	CLPP_ENST00000596605.1_Intron|CLPP_ENST00000596149.1_Missense_Mutation_p.A44V	NM_006012.2	NP_006003.1	Q16740	CLPP_HUMAN	caseinolytic mitochondrial matrix peptidase proteolytic subunit	131					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						GCGGGCCTGGCCATCTACGAC	0.667000													4	9					0	0	0.000602	0	0
LCA5	167691	broad.mit.edu	37	6	80228490	80228490	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:80228490G>A	ENST00000392959.1	-	3	733	c.122C>T	c.(121-123)tCt>tTt	p.S41F	LCA5_ENST00000467898.3_Missense_Mutation_p.S41F|LCA5_ENST00000369846.4_Missense_Mutation_p.S41F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	41					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGCAGGTGAAGAACTGACCAG	0.423000													108	200					0	0	0.014410	0	0
WDR6	11180	broad.mit.edu	37	3	49044905	49044905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49044905C>T	ENST00000395474.3	+	1	411	c.131C>T	c.(130-132)tCg>tTg	p.S44L	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000608424.1_Missense_Mutation_p.S14L|WDR6_ENST00000415265.2_Missense_Mutation_p.S14L	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	14					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGGGCAACCTCGGAGCTTATA	0.627000													5	8					0	0	0.001168	0	0
LPHN3	23284	broad.mit.edu	37	4	62813849	62813849	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:62813849C>T	ENST00000512091.2	+	16	3203	c.2456C>T	c.(2455-2457)tCa>tTa	p.S819L	LPHN3_ENST00000506700.1_Missense_Mutation_p.S819L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S819L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S819L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S887L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S819L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S887L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S887L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S819L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S887L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S887L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S887L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S819L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S819L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S887L			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTAACTGTTCATTTTGGAGC	0.383000													7	26					0	0	0.003080	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476590	35476590	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35476590C>T	ENST00000357182.4	-	9	1337	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	ZMYM6_ENST00000487874.1_Silent_p.L370L|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Silent_p.L370L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	370					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGCCCTGAGACAGGGGCACCG	0.478000													17	51					0	0	0.008871	0	0
C6orf222	389384	broad.mit.edu	37	6	36291244	36291244	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36291244G>C	ENST00000437635.2	-	8	1474	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	433										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTTTTTCTTGAGATTTCCTT	0.562000													52	171					0	0	0.014410	0	0
WDR73	84942	broad.mit.edu	37	15	85188819	85188819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85188819G>A	ENST00000434634.2	-	7	826	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	256										cervix(1)|large_intestine(1)|lung(1)	3						CAGAGATCCCGGGGGTCAAGA	0.617000													7	9					0	0	0.001984	0	0
STAT6	6778	broad.mit.edu	37	12	57493598	57493598	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57493598A>T	ENST00000300134.3	-	15	2021	c.1696T>A	c.(1696-1698)Tca>Aca	p.S566T	STAT6_ENST00000537215.2_Missense_Mutation_p.S456T|STAT6_ENST00000543873.2_Missense_Mutation_p.S566T|STAT6_ENST00000538913.2_Missense_Mutation_p.S456T|STAT6_ENST00000454075.3_Missense_Mutation_p.S566T|STAT6_ENST00000556155.1_Missense_Mutation_p.S566T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	566	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCAATCTCTGAGTCGCTGAAG	0.582000													11	23					0	0	0.001855	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17121480	17121480	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:17121480G>C	ENST00000265970.7	-	25	4044	c.4045C>G	c.(4045-4047)Caa>Gaa	p.Q1349E	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q969E	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1349	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTCAAATCTTGAATACTTGTA	0.333000													22	88					0	0	0.014323	0	0
CRY2	1408	broad.mit.edu	37	11	45889168	45889168	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:45889168G>C	ENST00000443527.2	+	6	832	c.810G>C	c.(808-810)tgG>tgC	p.W270C	CRY2_ENST00000417225.2_Missense_Mutation_p.W188C	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	249	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGTAGGCCTGGGTTGCCAACT	0.557000													26	75					0	0	0.005443	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494009	220494009	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220494009G>A	ENST00000358055.3	+	4	873	c.361G>A	c.(361-363)Gag>Aag	p.E121K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E121K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E121K|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E121K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E121K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	121					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCCCTCCGAGGGGACCCC	0.637000													13	18					0	0	0.013537	0	0
ZP2	7783	broad.mit.edu	37	16	21214522	21214522	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:21214522C>T	ENST00000574002.1	-	11	1505	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.L341L|ZP2_ENST00000219593.4_Silent_p.L341L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	341					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGAGAAAGGTCAGCTTGAGTG	0.433000													11	53					0	0	0.010729	0	0
EZR	7430	broad.mit.edu	37	6	159204664	159204664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159204664G>A	ENST00000367075.3	-	7	754	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	EZR_ENST00000337147.7_Nonsense_Mutation_p.Q196*|EZR_ENST00000392177.4_Nonsense_Mutation_p.Q164*|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	196	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCAGGTCCTGAGCAATCTTC	0.393000			T	ROS1	NSCLC								28	106					0	0	0.004656	0	0
MEX3B	84206	broad.mit.edu	37	15	82336488	82336488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:82336488G>A	ENST00000329713.4	-	2	1158	c.723C>T	c.(721-723)ttC>ttT	p.F241F	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	241					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGTTGGCGTGGAAGTCGTTCT	0.642000													31	83					0	0	0.013726	0	0
CLDN25	644672	broad.mit.edu	37	11	113651192	113651192	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:113651192G>A	ENST00000453129.2	+	1	724	c.675G>A	c.(673-675)agG>agA	p.R225R		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	225						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TAAGACCTAGGAACCTGGTCA	0.498000													21	50					0	0	0.010504	0	0
RNF133	168433	broad.mit.edu	37	7	122337916	122337916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:122337916C>T	ENST00000340112.2	-	1	1294	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	353						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGGTTCTCCTCCACATGGATT	0.408000													61	135					0	0	0.014410	0	0
RABL3	285282	broad.mit.edu	37	3	120424963	120424963	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:120424963T>C	ENST00000273375.3	-	4	298		c.e4-2		RABL3_ENST00000483733.1_Splice_Site|RABL3_ENST00000491398.1_Splice_Site	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3						small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AAATAATACCTAAAATAATCA	0.373000													11	38					0	0	0.008291	0	0
TEX9	374618	broad.mit.edu	37	15	56665652	56665652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:56665652G>C	ENST00000561221.2	+	3	138	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q	TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000559142.1_3'UTR|TEX9_ENST00000352903.2_Missense_Mutation_p.E45Q|TEX9_ENST00000537232.1_5'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	45										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTAAATGCAGAATTGCAGGC	0.284000													13	24					0	0	0.002450	0	0
NOP9	161424	broad.mit.edu	37	14	24772312	24772312	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24772312C>T	ENST00000267425.3	+	6	1269	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	NOP9_ENST00000396802.3_Silent_p.V392V	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		TGAGCCCTGTCTTGGAAGCTG	0.552000													21	51					0	0	0.012319	0	0
MT1JP	4498	broad.mit.edu	37	16	56670854	56670854	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:56670854G>A	ENST00000564564.1	+	0	833																											TGCTGTGCCTGATGTGGGAAC	0.498000													14	29					0	0	0.003163	0	0
CD97	976	broad.mit.edu	37	19	14507162	14507162	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14507162G>A	ENST00000242786.5	+	5	435	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CD97_ENST00000357355.3_Missense_Mutation_p.E119K|CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	119	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGATGTGGACGAATGTCAGCA	0.562000													25	81					0	0	0.002780	0	0
IGHD	3495	broad.mit.edu	37	14	106307448	106307448	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:106307448C>T	ENST00000390556.2	-	0	589																											GAGCATCCTTCAGGTCACTGC	0.657000													3	12					0	0	0.004672	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864615	22864615	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:22864615C>G	ENST00000251822.6	+	5	1394	c.857C>G	c.(856-858)tCc>tGc	p.S286C	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S293C|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S308C|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	286	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ATCTACCTCTCCACCTCTTCC	0.657000													26	23					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179604684	179604684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179604684C>T	ENST00000589042.1	-	48	13500	c.13276G>A	c.(13276-13278)Gag>Aag	p.E4426K	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E4109K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4063K|TTN_ENST00000342175.6_Missense_Mutation_p.E4255K|TTN_ENST00000359218.5_Missense_Mutation_p.E4188K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4109	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCGACCTCCACCTTTTCA	0.458000													31	67					0	0	0.008361	0	0
MTMR7	9108	broad.mit.edu	37	8	17198941	17198941	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:17198941C>A	ENST00000180173.5	-	6	697	c.663G>T	c.(661-663)caG>caT	p.Q221H	MTMR7_ENST00000521857.1_Missense_Mutation_p.Q221H|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	221	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGGAGCATCTGCTCGTCCT	0.572000													14	13					0.00185496	0.0018844	0.001855	1	0
ZNF548	147694	broad.mit.edu	37	19	57911012	57911012	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57911012G>C	ENST00000366197.5	+	3	1607	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	ZNF548_ENST00000336128.7_Missense_Mutation_p.E465Q|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGAGTGCAGAGAGTGTGGGAA	0.463000													13	113					0	0	0.013537	0	0
IPO4	79711	broad.mit.edu	37	14	24656970	24656970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656970G>T	ENST00000354464.6	-	5	487	c.311C>A	c.(310-312)tCa>tAa	p.S104*	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	104					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		AATGGTGGCTGAGAGCTGGGC	0.572000													14	27					3.27435e-08	3.38479e-08	0.002450	1	0
NVL	4931	broad.mit.edu	37	1	224492452	224492452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:224492452C>T	ENST00000281701.6	-	8	1070	c.811G>A	c.(811-813)Gat>Aat	p.D271N	NVL_ENST00000391875.2_Missense_Mutation_p.D165N|NVL_ENST00000469075.1_Missense_Mutation_p.D180N|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000361463.3_Missense_Mutation_p.D165N|NVL_ENST00000340871.4_Missense_Mutation_p.D55N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	271						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AATGTCATATCATTGCCTCCC	0.343000													45	216					0	0	0.014410	0	0
RFX6	222546	broad.mit.edu	37	6	117198480	117198480	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117198480G>A	ENST00000332958.2	+	1	58	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	14					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCTGCAGGCGCAGCCTGCGC	0.682000													8	5					0	0	0.006214	0	0
WDR45B	56270	broad.mit.edu	37	17	80574488	80574488	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80574488G>A	ENST00000392325.4	-	9	1034	c.840C>T	c.(838-840)ttC>ttT	p.F280F	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		ACTTGGAACTGAAGTATTTTG	0.463000													27	88					0	0	0.005443	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416981	89416981	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:89416981C>G	ENST00000490686.1	-	0	229																											ATAGATCAGGCGCTTAGGGGC	0.522000													26	221					0	0	0.006999	0	0
NOM1	64434	broad.mit.edu	37	7	156743173	156743173	+	Missense_Mutation	SNP	G	G	A	rs151324588	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156743173G>A	ENST00000275820.3	+	1	757	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	248	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACACTCCCCGAAAGTGACTT	0.547000													15	58					0	0	0.003163	0	0
CHRNA9	55584	broad.mit.edu	37	4	40350954	40350954	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40350954G>A	ENST00000310169.2	+	4	560	c.421G>A	c.(421-423)Ggg>Agg	p.G141R		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	141					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCGGTATGATGGGCTGATCAC	0.507000													29	117					0	0	0.007291	0	0
PLXND1	23129	broad.mit.edu	37	3	129293326	129293326	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:129293326G>A	ENST00000393239.1	-	12	2716	c.2538C>T	c.(2536-2538)gtC>gtT	p.V846V	PLXND1_ENST00000324093.4_Silent_p.V846V			Q9Y4D7	PLXD1_HUMAN	plexin D1	846					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CACAGTTATAGACCATGACTG	0.652000													9	21					0	0	0.004482	0	0
SALL4	57167	broad.mit.edu	37	20	50401020	50401020	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:50401020C>T	ENST00000217086.4	-	4	3057	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	SALL4_ENST00000395997.3_Silent_p.V545V|SALL4_ENST00000371539.3_Silent_p.V205V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	982					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATTGGTCTTCACGGCCAGAC	0.547000													39	71					0	0	0.007835	0	0
PADI2	11240	broad.mit.edu	37	1	17409048	17409048	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17409048C>T	ENST00000375486.4	-	10	1213	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E268K|PADI2_ENST00000375481.1_Missense_Mutation_p.E384K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	384					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCAGGAGCTCCTTCACAGGG	0.557000													21	60					0	0	0.012319	0	0
BAG1	573	broad.mit.edu	37	9	33264454	33264454	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33264454C>T	ENST00000472232.3	-	1	305	c.219G>A	c.(217-219)aaG>aaA	p.K73K	BAG1_ENST00000379704.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene	73	Arg-rich.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGTTTTCTTCTTCATCCGCG	0.701000													16	16					0	0	0.004990	0	0
C1orf106	55765	broad.mit.edu	37	1	200878016	200878016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200878016G>A	ENST00000367342.4	+	7	1188	c.988G>A	c.(988-990)Gac>Aac	p.D330N	C1orf106_ENST00000413687.2_Missense_Mutation_p.D245N	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	330	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AACCAGCCTGGACCACCCCTA	0.642000													9	44					0	0	0.010729	0	0
CYLC2	1539	broad.mit.edu	37	9	105767772	105767772	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:105767772G>A	ENST00000374798.3	+	5	929	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CYLC2_ENST00000487798.1_Missense_Mutation_p.D287N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	287	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCAAAGGATgatgtcaagaa	0.398000													20	20					0	0	0.007413	0	0
MOCS1	4337	broad.mit.edu	37	6	39895072	39895072	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39895072G>A	ENST00000373186.4	-	1	383	c.246C>T	c.(244-246)ctC>ctT	p.L82L	MOCS1_ENST00000340692.5_Silent_p.L82L|MOCS1_ENST00000308559.7_Silent_p.L82L|MOCS1_ENST00000373175.4_Silent_p.L53L|MOCS1_ENST00000432280.2_Silent_p.L53L|MOCS1_ENST00000425303.2_Silent_p.L82L|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373188.2_Silent_p.L82L	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	82	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTCACATCTGAGGTTGCACT	0.602000													8	74					0	0	0.003080	0	0
TP63	8626	broad.mit.edu	37	3	189349350	189349350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:189349350G>A	ENST00000264731.3	+	1	135	c.46G>A	c.(46-48)Gac>Aac	p.D16N	TP63_ENST00000320472.5_Missense_Mutation_p.D16N|TP63_ENST00000382063.4_Missense_Mutation_p.D16N|TP63_ENST00000440651.2_Missense_Mutation_p.D16N|TP63_ENST00000418709.2_Missense_Mutation_p.D16N|TP63_ENST00000392460.3_Missense_Mutation_p.D16N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	16	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTACTGCCCTGACCCTTACAT	0.378000										HNSCC(45;0.13)			40	125					0	0	0.007835	0	0
STAC	6769	broad.mit.edu	37	3	36570456	36570456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:36570456G>C	ENST00000273183.3	+	10	1389	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	STAC_ENST00000457375.2_Missense_Mutation_p.Q302H	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	363					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AACAGGGGCAGATAACACTGA	0.353000													24	24					0	0	0.003954	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033664	37033664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:37033664G>A	ENST00000322716.5	-	1	1131	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	302						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TATCCATTCGGATATGGTATT	0.393000													20	82					0	0	0.008871	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883774	74883774	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:74883774G>C	ENST00000357877.2	+	2	408	c.259G>C	c.(259-261)Gct>Cct	p.A87P	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87P	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	87	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCATCTTCGCTTTATCCCT	0.527000													54	80					0	0	0.014410	0	0
TMF1	7110	broad.mit.edu	37	3	69074854	69074854	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:69074854G>A	ENST00000543976.1	-	15	3124	c.2878C>T	c.(2878-2880)Cat>Tat	p.H960Y	TMF1_ENST00000398559.2_Missense_Mutation_p.H957Y|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	957					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GAGTGATCATGAGACTCATCC	0.368000													30	72					0	0	0.010818	0	0
ERC2	26059	broad.mit.edu	37	3	56114883	56114883	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:56114883C>G	ENST00000288221.6	-	7	1858	c.1603G>C	c.(1603-1605)Gaa>Caa	p.E535Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	535						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTTCACTTCTAACATATCT	0.368000													22	23					0	0	0.012319	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094917	139094917	+	Missense_Mutation	SNP	G	G	A	rs34991012	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094917G>A	ENST00000332797.6	+	1	261	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	36										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TAAACAAACGGAGCTGCGGAG	0.657000													29	138					0	0	0.003271	0	0
MEX3A	92312	broad.mit.edu	37	1	156051412	156051412	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156051412C>T	ENST00000532414.2	-	1	377	c.378G>A	c.(376-378)ctG>ctA	p.L126L	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	126						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCTGCCCTTCAGGCGCAGCT	0.716000													19	0					0	0	0.008871	0	0
CDK16	5127	broad.mit.edu	37	X	47083915	47083915	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083915G>A	ENST00000457458.2	+	3	772	c.352G>A	c.(352-354)Gag>Aag	p.E118K	CDK16_ENST00000276052.6_Missense_Mutation_p.E186K|CDK16_ENST00000518022.1_Missense_Mutation_p.E112K|CDK16_ENST00000357227.4_Missense_Mutation_p.E112K	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	112							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GATCTCCACTGAGGTGCTTGA	0.577000													27	3					0	0	0.005443	0	0
POLR1A	25885	broad.mit.edu	37	2	86259451	86259451	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:86259451C>T	ENST00000263857.6	-	29	4594	c.4216G>A	c.(4216-4218)Gag>Aag	p.E1406K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1406K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1406					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCCCCTCCTCAGCTTCAGCA	0.567000													40	54					0	0	0.006230	0	0
CFI	3426	broad.mit.edu	37	4	110682771	110682771	+	Missense_Mutation	SNP	C	C	T	rs143366614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110682771C>T	ENST00000394634.2	-	4	767	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CFI_ENST00000512148.1_Missense_Mutation_p.R187Q|CFI_ENST00000394635.3_Missense_Mutation_p.R187Q	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	187	SRCR.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CTCTAATCCTCGGCAATGCAC	0.388000													111	23					0	0	0.014410	0	0
SUMF2	25870	broad.mit.edu	37	7	56142308	56142308	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56142308G>A	ENST00000434526.2	+	5	502	c.471G>A	c.(469-471)gaG>gaA	p.E157E	SUMF2_ENST00000275607.9_Silent_p.E50E|SUMF2_ENST00000342190.6_Silent_p.E157E|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Silent_p.E142E|SUMF2_ENST00000413756.1_Silent_p.E138E	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	138						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCATCCGAGAGAGACTGGAGC	0.597000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	96					0	0	0.001855	0	0
TNRC6A	27327	broad.mit.edu	37	16	24817006	24817006	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24817006G>A	ENST00000395799.3	+	15	4332	c.4203G>A	c.(4201-4203)ctG>ctA	p.L1401L	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Silent_p.L1352L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1401					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TAGCCATGCTGAACCAGCTAT	0.453000													45	421					0	0	0.010771	0	0
EPN3	55040	broad.mit.edu	37	17	48618874	48618874	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48618874G>A	ENST00000268933.3	+	9	1983	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	EPN3_ENST00000537145.1_Silent_p.T496T|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	468						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AAAATGGCACGAAGGAGCCAG	0.582000													9	41					0	0	0.004482	0	0
OR51L1	119682	broad.mit.edu	37	11	5020915	5020915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5020915G>C	ENST00000321543.1	+	1	703	c.703G>C	c.(703-705)Gag>Cag	p.E235Q		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTCGTGAAGAGCAGCTAAA	0.423000													18	82					0	0	0.004990	0	0
LAMA5	3911	broad.mit.edu	37	20	60893546	60893546	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60893546G>A	ENST00000252999.3	-	53	7269	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2401	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCGGCTGTTGAGCTCCTGGG	0.672000													11	11					0	0	0.004007	0	0
SRCAP	10847	broad.mit.edu	37	16	30740403	30740403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30740403C>T	ENST00000262518.4	+	26	6160	c.5775C>T	c.(5773-5775)ttC>ttT	p.F1925F	SRCAP_ENST00000395059.2_Silent_p.F1863F|SRCAP_ENST00000344771.4_Silent_p.F1767F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1925					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)			TCCTGGATTTCTGTACCCTGC	0.617000													12	54					0	0	0.001855	0	0
FCN3	8547	broad.mit.edu	37	1	27700864	27700864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27700864C>A	ENST00000270879.4	-	2	175	c.170G>T	c.(169-171)gGa>gTa	p.G57V	FCN3_ENST00000354982.2_Missense_Mutation_p.G57V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	57	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGGGCTCCCTTCTCCCC	0.612000													11	29					0.00010058	0.000102656	0.013537	1	0
C17orf104	284071	broad.mit.edu	37	17	42745351	42745351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745351G>A	ENST00000409122.2	+	5	2214	c.2072G>A	c.(2071-2073)aGa>aAa	p.R691K	C17orf104_ENST00000409464.1_Missense_Mutation_p.R525K|C17orf104_ENST00000359945.3_Missense_Mutation_p.R691K	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	691										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TTTCCCCTAAGATCCACCCAC	0.368000													5	27					0	0	0.000602	0	0
CRMP1	1400	broad.mit.edu	37	4	5838496	5838496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5838496G>A	ENST00000324989.7	-	10	1536	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	CRMP1_ENST00000397890.2_Missense_Mutation_p.A369V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A367V	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	369					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTACCACCGCCTTGTCCCA	0.547000													29	65					0	0	0.012213	0	0
RNF125	54941	broad.mit.edu	37	18	29617112	29617112	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29617112G>A	ENST00000217740.3	+	2	690	c.198G>A	c.(196-198)aaG>aaA	p.K66K	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	66					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCAGTCTAAAGAACAACAAGT	0.423000													83	147					0	0	0.014410	0	0
SP1	6667	broad.mit.edu	37	12	53776403	53776403	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53776403C>T	ENST00000426431.2	+	3	711	c.651C>T	c.(649-651)atC>atT	p.I217I	SP1_ENST00000327443.4_Silent_p.I224I	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	224	Transactivation domain A (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)		GAGGCAACATCATTGCTGCTA	0.502000													52	84					0	0	0.014410	0	0
GSTM2	2946	broad.mit.edu	37	1	110213924	110213924	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110213924G>A	ENST00000369831.2	+	6	470	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	GSTM2_ENST00000460717.3_Missense_Mutation_p.E126K|GSTM2_ENST00000369827.3_Missense_Mutation_p.E124K|GSTM2_ENST00000414179.2_Missense_Mutation_p.E22K|GSTM2_ENST00000241337.4_Missense_Mutation_p.E126K|GSTM2_ENST00000442650.1_Missense_Mutation_p.E126K|GSTM2_ENST00000369829.2_Missense_Mutation_p.E126K					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACTGAAACCAGAATACCTGCA	0.542000													33	33					0	0	0.010818	0	0
C1orf216	127703	broad.mit.edu	37	1	36181317	36181317	+	Silent	SNP	G	G	A	rs11554216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36181317G>A	ENST00000270815.4	-	2	1376	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	202										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATGGTGTCGAAGCTCTCCT	0.607000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	90					0	0	0.012213	0	0
CDHR5	53841	broad.mit.edu	37	11	617419	617419	+	Missense_Mutation	SNP	C	C	T	rs76054644		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:617419C>T	ENST00000358353.3	-	16	2792	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	CDHR5_ENST00000349570.7_Missense_Mutation_p.E630K|CDHR5_ENST00000397542.2_Missense_Mutation_p.E824K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCTCGCCCTCATCGCCGCTG	0.687000													4	10					0	0	0.000602	0	0
ZNF555	148254	broad.mit.edu	37	19	2852793	2852793	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2852793A>G	ENST00000334241.4	+	4	868	c.730A>G	c.(730-732)Act>Gct	p.T244A	ZNF555_ENST00000591539.1_Missense_Mutation_p.T243A|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAGTCTTACTAGTCATCT	0.423000													19	54					0	0	0.006122	0	0
DDX55	57696	broad.mit.edu	37	12	124104609	124104609	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124104609G>T	ENST00000238146.4	+	14	1775	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	DDX55_ENST00000421670.3_Missense_Mutation_p.E182D|DDX55_ENST00000538744.1_Missense_Mutation_p.E544D	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	575							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGAATTTGAGAAGGGCTTGT	0.393000													21	90					1.40151e-16	1.47828e-16	0.010504	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32977305G>A	ENST00000229829.5	-	1	84	c.9C>T	c.(7-9)ctC>ctT	p.L3L	HLA-DOA_ENST00000450833.2_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	3					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCTGCTCTGAGGGCCATTA	0.587000													4	19					0	0	0.009096	0	0
METTL3	56339	broad.mit.edu	37	14	21967731	21967731	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21967731C>T	ENST00000298717.4	-	8	1508	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	453					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)		ATAATTTCATCTACCCGTTCA	0.423000													31	76					0	0	0.008361	0	0
C1orf85	112770	broad.mit.edu	37	1	156263941	156263941	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156263941C>T	ENST00000362007.1	-	4	692	c.666G>A	c.(664-666)ctG>ctA	p.L222L		NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	222					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGGCTCCAATCAGGGCCACCT	0.627000													101	41					0	0	0.014410	0	0
C19orf59	199675	broad.mit.edu	37	19	7743014	7743014	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7743014C>G	ENST00000333598.3	+	3	663	c.209C>G	c.(208-210)tCa>tGa	p.S70*	C19orf59_ENST00000597445.1_Nonsense_Mutation_p.S27*	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	70						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						AGGCCGCCCTCAGACTCCACC	0.597000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	137					0	0	0.014410	0	0
RBP1	5947	broad.mit.edu	37	3	139258348	139258348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:139258348C>T	ENST00000483943.2	-	1	213	c.213G>A	c.(211-213)tgG>tgA	p.W71*	RBP1_ENST00000232219.2_Nonsense_Mutation_p.W71*|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Nonsense_Mutation_p.W71*	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	9						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CCAACATCTTCCAGTACCCAG	0.682000													6	10					0	0	0.001984	0	0
RPS16	6217	broad.mit.edu	37	19	39926340	39926340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39926340C>T	ENST00000339471.4	-	2	97	c.57G>A	c.(55-57)gcG>gcA	p.A19A	RPS16_ENST00000601655.1_Silent_p.A19A|RPS16_ENST00000251453.3_Silent_p.A19A|RPS16_ENST00000599539.1_Silent_p.A19A			P62249	RS16_HUMAN	ribosomal protein S16	19					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCACAGCTGTCGCTGTCTTCT	0.602000													4	31					0	0	0.000602	0	0
AKR1B1	231	broad.mit.edu	37	7	134135636	134135636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134135636C>T	ENST00000285930.4	-	3	332	c.253G>A	c.(253-255)Gag>Aag	p.E85K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	85					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGCCCTTCTCATGGTACGTG	0.562000													8	28					0	0	0.003080	0	0
LSMD1	84316	broad.mit.edu	37	17	7760451	7760451	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7760451G>A	ENST00000333775.5	-	1	721	c.291C>T	c.(289-291)ctC>ctT	p.L97L	LSMD1_ENST00000575208.1_5'UTR|LSMD1_ENST00000575071.1_5'UTR|LSMD1_ENST00000576861.1_Silent_p.L23L|LSMD1_ENST00000335155.5_Silent_p.L49L|LSMD1_ENST00000576384.1_5'UTR|LSMD1_ENST00000575771.1_5'UTR	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	49						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				TAGTCTTGTTGAGCAGCGCCT	0.642000											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	82					0	0	0.003755	0	0
FAM213B	127281	broad.mit.edu	37	1	2520475	2520475	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:2520475C>G	ENST00000444521.2	+	6	696	c.629C>G	c.(628-630)cCt>cGt	p.P210R	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000378424.4_Silent_p.A229A|FAM213B_ENST00000419916.2_Missense_Mutation_p.P222R|FAM213B_ENST00000537325.1_Missense_Mutation_p.P185R|FAM213B_ENST00000378425.5_Missense_Mutation_p.P192R	NM_001195736.1	NP_001182665.1	Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	192					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										AGCGACCCGCCTCAGGTGAGC	0.682000													15	29					0	0	0.004007	0	0
ASXL2	55252	broad.mit.edu	37	2	26029124	26029124	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26029124C>T	ENST00000435504.4	-	4	519	c.226G>A	c.(226-228)Ggt>Agt	p.G76S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.G48S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATTCTACCTGGAACCTTA	0.398000													5	36					0	0	0.000602	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349839	41349839	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41349839G>A	ENST00000301141.5	-	9	1367	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	449					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AGAAGAGAAAGAGCTCCATTC	0.587000													9	55					0	0	0.003163	0	0
NACA	4666	broad.mit.edu	37	12	57108199	57108199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57108199C>T	ENST00000454682.1	-	5	6051	c.5770G>A	c.(5770-5772)Gaa>Aaa	p.E1924K	NACA_ENST00000393891.4_Missense_Mutation_p.E61K|NACA_ENST00000356769.3_Missense_Mutation_p.E61K|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000546392.1_Missense_Mutation_p.E61K|NACA_ENST00000550952.1_Missense_Mutation_p.E771K|NACA_ENST00000552540.1_Missense_Mutation_p.E61K	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	61					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ACTGGTTCTTCATCAATTTCA	0.398000			T	BCL6	NHL								22	78					0	0	0.010504	0	0
THBS2	7058	broad.mit.edu	37	6	169629759	169629759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:169629759G>C	ENST00000366787.3	-	15	2416	c.2167C>G	c.(2167-2169)Ctg>Gtg	p.L723V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	723					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GAATTTGGCAGATGGGGGCAG	0.483000													22	97					0	0	0.002780	0	0
GRAP2	9402	broad.mit.edu	37	22	40343156	40343156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40343156G>A	ENST00000344138.4	+	2	309	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.E16K|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.E16K|GRAP2_ENST00000540310.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	16	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGGTGAGGATGAACTGAGCTT	0.498000													20	48					0	0	0.010504	0	0
AQP7	364	broad.mit.edu	37	9	33385600	33385600	+	Missense_Mutation	SNP	G	G	A	rs117066088	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33385600G>A	ENST00000541274.1	-	5	844	c.395C>T	c.(394-396)cCc>cTc	p.P132L	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AACACACAGGGGACCCACAGA	0.612000													6	74					0	0	0.013537	0	0
SIX5	147912	broad.mit.edu	37	19	46271356	46271356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:46271356G>A	ENST00000560168.1	-	2	155	c.145C>T	c.(145-147)Caa>Taa	p.Q49*	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000317578.6_Silent_p.F249F|AC074212.6_ENST00000590076.1_RNA			Q8N196	SIX5_HUMAN	SIX homeobox 5	542						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCCGGTTCTTGAACCAGTTGC	0.716000													5	15					0	0	0.000602	0	0
ZNF256	10172	broad.mit.edu	37	19	58452322	58452322	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58452322G>A	ENST00000282308.3	-	3	2050	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	618					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GATGTTTTAGGAGGTTGGAGT	0.428000													21	74					0	0	0.014323	0	0
UTRN	7402	broad.mit.edu	37	6	144820495	144820495	+	Missense_Mutation	SNP	G	G	A	rs142782123		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:144820495G>A	ENST00000367545.3	+	33	4696	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1566	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACTGAAACTGAATTGGTACA	0.448000													26	41					0	0	0.003954	0	0
RAD9B	144715	broad.mit.edu	37	12	110956540	110956540	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:110956540C>G	ENST00000409246.1	+	7	764	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E	RAD9B_ENST00000392672.4_Missense_Mutation_p.Q219E|RAD9B_ENST00000409425.1_Missense_Mutation_p.Q147E|RAD9B_ENST00000409300.1_Missense_Mutation_p.Q219E|RAD9B_ENST00000409778.3_Missense_Mutation_p.Q150E			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	216					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGACTTCTTTCAAATTGGAAT	0.279000													42	57					0	0	0.010771	0	0
OR2A5	393046	broad.mit.edu	37	7	143747957	143747957	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:143747957C>T	ENST00000408906.2	+	1	497	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L155V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGTTCCCTTCTGGCCCTGGT	0.532000													62	166					0	0	0.014410	0	0
RAB39A	54734	broad.mit.edu	37	11	107799300	107799300	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107799300G>C	ENST00000320578.2	+	1	72	c.6G>C	c.(4-6)gaG>gaC	p.E2D		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	2					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										GAGCGATGGAGACCATCTGGA	0.711000													4	5					0	0	0.009096	0	0
KRT40	125115	broad.mit.edu	37	17	39137159	39137159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39137159C>G	ENST00000377755.4	-	5	887	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	KRT40_ENST00000398486.2_Missense_Mutation_p.E285Q			Q6A162	K1C40_HUMAN	keratin 40	285	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTCAGCTCTTCTGTCTGAAAC	0.483000													69	98					0	0	0.014410	0	0
SMARCB1	6598	broad.mit.edu	37	22	24159103	24159103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24159103G>A	ENST00000344921.6	+	6	1009	c.802G>A	c.(802-804)Gac>Aac	p.D268N	SMARCB1_ENST00000407082.3_Missense_Mutation_p.D213N|SMARCB1_ENST00000407422.3_Missense_Mutation_p.D250N|SMARCB1_ENST00000263121.7_Missense_Mutation_p.D259N|SMARCB1_ENST00000477836.1_3'UTR			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	259	2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(3)|p.D259fs*26(1)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGACCAGTCAGACCAGCGCGT	0.582000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							11	40					0	0	0.013537	0	0
ILF3	3609	broad.mit.edu	37	19	10793287	10793287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793287G>A	ENST00000449870.1	+	13	1772	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	ILF3_ENST00000420083.1_Silent_p.E485E|ILF3_ENST00000318511.3_Silent_p.E485E|ILF3_ENST00000589998.1_Silent_p.E485E|ILF3_ENST00000407004.3_Silent_p.E485E|ILF3_ENST00000590261.1_Silent_p.E485E|ILF3_ENST00000588657.1_Silent_p.E485E|ILF3_ENST00000250241.8_Silent_p.E485E|ILF3_ENST00000592763.1_Silent_p.E485E	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	485					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGGCTGAGGAGACCGAGGCGA	0.647000													10	19					0	0	0.008291	0	0
RASSF7	8045	broad.mit.edu	37	11	563424	563424	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:563424C>T	ENST00000397583.3	+	5	1413	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RASSF7_ENST00000397582.3_3'UTR|RASSF7_ENST00000454668.2_Intron|RASSF7_ENST00000344375.4_Missense_Mutation_p.S327F|RASSF7_ENST00000431809.1_3'UTR	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	327					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGAGGAGTCCCTCCTGGGC	0.697000													5	12					0	0	0.001168	0	0
EDC3	80153	broad.mit.edu	37	15	74927761	74927761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74927761G>A	ENST00000315127.4	-	6	1362	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	EDC3_ENST00000568176.1_Missense_Mutation_p.S394F|EDC3_ENST00000426797.3_Missense_Mutation_p.S394F	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	394	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTTGAGGCTAGACACTTGTTG	0.532000											OREG0023287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	29					0	0	0.003755	0	0
PRRT3	285368	broad.mit.edu	37	3	9988960	9988960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9988960C>T	ENST00000412055.1	-	4	2026	c.1897G>A	c.(1897-1899)Gcc>Acc	p.A633T		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	633						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCCGGGCTGGCATCCCAGCCC	0.766000													6	0					0	0	0.001984	0	0
TAC1	6863	broad.mit.edu	37	7	97362008	97362008	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:97362008G>A	ENST00000319273.5	+	2	381	c.84G>A	c.(82-84)ctG>ctA	p.L28L	TAC1_ENST00000350485.4_Silent_p.L28L|TAC1_ENST00000346867.4_Silent_p.L28L	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	28					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	ATGATGATCTGAATTACTGGT	0.532000													25	71					0	0	0.003330	0	0
CARD11	84433	broad.mit.edu	37	7	2966418	2966418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966418C>T	ENST00000396946.4	-	14	2165	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	588					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGTCTTCTTCGACTGTGCTG	0.567000			Mis		DLBCL								5	12					0	0	0.001168	0	0
TCHH	7062	broad.mit.edu	37	1	152083964	152083964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152083964G>A	ENST00000368804.1	-	2	1728	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	577	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCAGCAGCTGATCGCGCCTC	0.672000													28	56					0	0	0.003271	0	0
FLNB	2317	broad.mit.edu	37	3	58106996	58106996	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58106996C>T	ENST00000357272.4	+	20	3057	c.2892C>T	c.(2890-2892)ttC>ttT	p.F964F	FLNB_ENST00000429972.2_Silent_p.F964F|FLNB_ENST00000419752.2_Silent_p.F795F|FLNB_ENST00000358537.3_Silent_p.F964F|FLNB_ENST00000493452.1_Silent_p.F795F|FLNB_ENST00000295956.4_Silent_p.F964F|FLNB_ENST00000348383.5_Silent_p.F964F|FLNB_ENST00000490882.1_Silent_p.F964F			O75369	FLNB_HUMAN	filamin B, beta	964					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCAGGAGTTCACCGTTGATA	0.562000													44	139					0	0	0.010771	0	0
PSMB4	5692	broad.mit.edu	37	1	151372617	151372617	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151372617G>A	ENST00000290541.6	+	2	355	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCTGGCGACTACGCTGA	0.537000													56	402					0	0	0.014410	0	0
KIF26B	55083	broad.mit.edu	37	1	245851077	245851077	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:245851077C>G	ENST00000366518.4	+	9	3753	c.3649C>G	c.(3649-3651)Ctg>Gtg	p.L1217V	KIF26B_ENST00000407071.2_Missense_Mutation_p.L1598V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1598					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTCCCCCTCTGCCCCCTGT	0.687000													3	1					0	0	0.004672	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641318	161641318	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641318C>G	ENST00000367962.4	+	3	397	c.270C>G	c.(268-270)ctC>ctG	p.L90L	FCGR2B_ENST00000428605.2_Silent_p.L90L|FCGR2B_ENST00000236937.9_Silent_p.L90L|FCGR2B_ENST00000358671.5_Silent_p.L90L|FCGR2B_ENST00000367960.5_Silent_p.L83L|FCGR2B_ENST00000403078.3_Silent_p.L90L|FCGR2B_ENST00000367961.4_Silent_p.L83L			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	90	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGAATCTCATTCCCACCC	0.587000			T	?	ALL								15	87					0	0	0.004990	0	0
MIR587	693172	broad.mit.edu	37	6	107232003	107232003	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:107232003C>G	ENST00000384845.1	+	0	4					NR_030314.1																						tctgcccctcctatgcaccct	0.512000													13	71					0	0	0.001855	0	0
DCHS1	8642	broad.mit.edu	37	11	6661230	6661230	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661230C>T	ENST00000299441.3	-	2	2026	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	539	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCCAACTCATAGTCCAGT	0.582000													11	33					0	0	0.003163	0	0
SWT1	54823	broad.mit.edu	37	1	185171807	185171807	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185171807C>G	ENST00000367500.4	+	11	1710	c.1545C>G	c.(1543-1545)aaC>aaG	p.N515K	SWT1_ENST00000367501.3_Missense_Mutation_p.N515K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	515	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACTTAAGAAACAAAGGCCTAA	0.368000													28	56					0	0	0.005443	0	0
HEATR1	55127	broad.mit.edu	37	1	236738083	236738083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236738083C>G	ENST00000366582.3	-	23	3319	c.3205G>C	c.(3205-3207)Gaa>Caa	p.E1069Q	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1069					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGAAAATTCATTATACTTT	0.428000													42	39					0	0	0.008740	0	0
MME	4311	broad.mit.edu	37	3	154886393	154886393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:154886393G>A	ENST00000460393.1	+	19	2013	c.1893G>A	c.(1891-1893)tgG>tgA	p.W631*	MME_ENST00000360490.2_Nonsense_Mutation_p.W631*|MME_ENST00000462745.1_Nonsense_Mutation_p.W631*|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Nonsense_Mutation_p.W631*|MME_ENST00000493237.1_Nonsense_Mutation_p.W631*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	631					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACTTTTCCTGGGACCTGGCAG	0.408000													28	107					0	0	0.006320	0	0
PELO	53918	broad.mit.edu	37	5	52096666	52096666	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:52096666C>T	ENST00000274311.2	+	2	1423	c.438C>T	c.(436-438)ctC>ctT	p.L146L	PELO_ENST00000506949.1_Intron|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	146					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AGGAAGGCCTCGCCCATATCT	0.582000													4	16					0	0	0.009096	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22517052	22517052	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:22517052G>A	ENST00000390284.2	+	0	340																											TTATTACTGTGAGACCTGGGA	0.498000													13	18					0	0	0.003163	0	0
SOGA2	23255	broad.mit.edu	37	18	8824703	8824703	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:8824703G>A	ENST00000359865.3	+	15	3337	c.3195G>A	c.(3193-3195)gtG>gtA	p.V1065V	SOGA2_ENST00000400050.3_Silent_p.V1024V|SOGA2_ENST00000518815.1_Silent_p.V390V|SOGA2_ENST00000306329.11_Silent_p.V1384V|SOGA2_ENST00000306285.7_Silent_p.V390V|SOGA2_ENST00000517570.1_Silent_p.V1024V	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1375																	CCAGGGCGGTGTCCGTGTCCT	0.587000													15	8					0	0	0.003163	0	0
KIF16B	55614	broad.mit.edu	37	20	16362382	16362382	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:16362382C>T	ENST00000354981.2	-	18	1952	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	KIF16B_ENST00000408042.1_Missense_Mutation_p.E599K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E599K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	599	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTTGCCTCTCAAATTCAAGT	0.343000													10	43					0	0	0.008291	0	0
ADAM33	80332	broad.mit.edu	37	20	3655675	3655675	+	Splice_Site	SNP	G	G	A	rs146682885		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:3655675G>A	ENST00000356518.2	-	4	573	c.332C>T	c.(331-333)aCg>aTg	p.T111M	ADAM33_ENST00000379861.4_Splice_Site_p.T111M|ADAM33_ENST00000350009.2_Splice_Site_p.T111M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	111					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCATCTCACCGTGTGGTTGGG	0.622000													10	17					0	0	0.008291	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723730	103723730	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:103723730G>C	ENST00000453744.2	-	5	699	c.186C>G	c.(184-186)ttC>ttG	p.F62L	UBE2D3_ENST00000394803.5_Missense_Mutation_p.F62L|UBE2D3_ENST00000504211.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000394801.4_Missense_Mutation_p.F62L|UBE2D3_ENST00000321805.7_Missense_Mutation_p.F62L|UBE2D3_ENST00000357194.6_Missense_Mutation_p.F64L|UBE2D3_ENST00000505207.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000349311.8_Missense_Mutation_p.F62L|UBE2D3_ENST00000502404.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000507845.1_Missense_Mutation_p.F33L|UBE2D3_ENST00000394804.2_Missense_Mutation_p.F62L|UBE2D3_ENST00000338145.3_Missense_Mutation_p.F62L|UBE2D3_ENST00000350435.7_Missense_Mutation_p.F56L|UBE2D3_ENST00000343106.5_Missense_Mutation_p.F62L	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	62					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TAGGTGGTTTGAAGGGGTAGT	0.343000													50	70					0	0	0.014410	0	0
CASP1	834	broad.mit.edu	37	11	104899926	104899926	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:104899926C>A	ENST00000533400.1	-	7	966	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000593315.1_Nonsense_Mutation_p.E290*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.E311*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.E274*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.E218*|CASP1_ENST00000528974.1_Nonsense_Mutation_p.E272*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.E290*|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Nonsense_Mutation_p.E311*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.E290*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	311					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCAAACTCTTCTGTAGTTGGT	0.413000													16	40					9.16793e-09	9.50878e-09	0.004990	1	0
CDK16	5127	broad.mit.edu	37	X	47083090	47083090	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083090G>A	ENST00000457458.2	+	2	572	c.152G>A	c.(151-153)gGa>gAa	p.G51E	CDK16_ENST00000276052.6_Missense_Mutation_p.G119E|CDK16_ENST00000518022.1_Missense_Mutation_p.G45E|CDK16_ENST00000357227.4_Missense_Mutation_p.G45E	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	45							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGTGACCCTGGAGAGGCCCCC	0.622000													8	2					0	0	0.004482	0	0
USP7	7874	broad.mit.edu	37	16	9009183	9009183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:9009183C>T	ENST00000344836.4	-	10	1204	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	USP7_ENST00000535863.1_Missense_Mutation_p.E237K|USP7_ENST00000381886.4_Missense_Mutation_p.E320K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	336					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TAGTCTACTTCTTTACACTGG	0.299000													45	32					0	0	0.014410	0	0
VPS13D	55187	broad.mit.edu	37	1	12387712	12387712	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12387712G>A	ENST00000358136.3	+	36	8128	c.7998G>A	c.(7996-7998)ttG>ttA	p.L2666L	VPS13D_ENST00000356315.4_Silent_p.L2666L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2666	UBA.				protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGGCCAATTGAAAAAGGCAG	0.473000													90	249					0	0	0.014410	0	0
IPO4	79711	broad.mit.edu	37	14	24656644	24656644	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24656644G>C	ENST00000354464.6	-	6	726	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	184					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATGGTGGTCAGAGTGCGCAGG	0.577000													16	64					0	0	0.006122	0	0
GPR125	166647	broad.mit.edu	37	4	22456499	22456499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:22456499G>A	ENST00000334304.5	-	4	732	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Silent_p.L155L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	155					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCGAACCAGATTGGTGAGT	0.358000													9	60					0	0	0.004482	0	0
SNTA1	6640	broad.mit.edu	37	20	32005554	32005554	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32005554C>T	ENST00000217381.2	-	3	943	c.672G>A	c.(670-672)aaG>aaA	p.K224K		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	224	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGGTGCACCTCTTCGAGACAT	0.607000													22	47					0	0	0.003330	0	0
STAM2	10254	broad.mit.edu	37	2	153000393	153000393	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:153000393C>G	ENST00000263904.4	-	7	1001	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	218	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AGTTCATTGTCCTCAACAGCT	0.318000													19	37					0	0	0.008871	0	0
AMT	275	broad.mit.edu	37	3	49455127	49455127	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49455127G>A	ENST00000273588.3	-	9	1360	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	AMT_ENST00000395338.2_Missense_Mutation_p.S353F|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.S309F|AMT_ENST00000546031.1_Missense_Mutation_p.S256F|AMT_ENST00000538581.1_Missense_Mutation_p.S297F	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	353					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CAGAGAGGGGGAGGGGCAGCC	0.587000													20	25					0	0	0.007291	0	0
OTUB2	78990	broad.mit.edu	37	14	94512231	94512231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:94512231C>T	ENST00000203664.5	+	6	877	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	223	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		TATAAAACATCCCACTACAAC	0.498000													8	19					0	0	0.004482	0	0
KLB	152831	broad.mit.edu	37	4	39448203	39448203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39448203C>T	ENST00000257408.4	+	4	1954	c.1857C>T	c.(1855-1857)gcC>gcT	p.A619A		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	619	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCGACAGGCCCTGAGGTACT	0.597000													13	52					0	0	0.001855	0	0
KLHL32	114792	broad.mit.edu	37	6	97587083	97587083	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:97587083C>T	ENST00000369261.4	+	11	2151	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	KLHL32_ENST00000536676.1_Silent_p.F560F|KLHL32_ENST00000539200.1_Silent_p.F527F|KLHL32_ENST00000544166.1_Silent_p.F152F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	596										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGCATGCTTCCTTCCAGCTC	0.448000													38	153					0	0	0.004878	0	0
DOCK7	85440	broad.mit.edu	37	1	63113920	63113920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63113920C>G	ENST00000251157.5	-	6	622	c.589G>C	c.(589-591)Gac>Cac	p.D197H	DOCK7_ENST00000404627.2_Missense_Mutation_p.D197H|DOCK7_ENST00000340370.5_Missense_Mutation_p.D197H	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	197					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTTCAAGTCAAAGATACTA	0.363000													24	82					0	0	0.014323	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539319	120539319	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:120539319G>A	ENST00000602566.1	-	6	1130	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	NOTCH2_ENST00000256646.2_Intron			Q04721	NOTC2_HUMAN	notch 2	0	EGF-like 6.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCATTCCAGACTTGCCTGT	0.373000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				13	35					0	0	0.002450	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662717	662717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:662717A>G	ENST00000266383.5	+	14	1641	c.1628A>G	c.(1627-1629)cAg>cGg	p.Q543R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	543						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AACCTGCCTCAGATGAGGGGG	0.617000													23	13					0	0	0.012319	0	0
ACER1	125981	broad.mit.edu	37	19	6306799	6306799	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6306799G>A	ENST00000301452.4	-	6	798	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	241						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGCCAGTAGCGGACTTTGAGG	0.572000													11	37					0	0	0.008291	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554899	136554899	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:136554899C>G	ENST00000355849.5	+	3	620	c.210C>G	c.(208-210)ttC>ttG	p.F70L	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	70	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTTCCTAGTTCAACTTTGTGG	0.363000													134	81					0	0	0.014410	0	0
SLC28A3	64078	broad.mit.edu	37	9	86912168	86912168	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86912168C>T	ENST00000376238.4	-	8	878	c.829G>A	c.(829-831)Gag>Aag	p.E277K	SLC28A3_ENST00000537648.1_Missense_Mutation_p.E208K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	277					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGTATTTCTCACCAAAGACA	0.373000													52	43					0	0	0.014410	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33018001	33018001	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:33018001T>C	ENST00000357505.6	-	7	732	c.628A>G	c.(628-630)Aaa>Gaa	p.K210E	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.K225E|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.K210E	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TTCCATCTTTTTTCTTTATAT	0.343000													4	8					0	0	0.009096	0	0
ADCY3	109	broad.mit.edu	37	2	25047259	25047259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:25047259C>T	ENST00000260600.5	-	16	3575	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K	ADCY3_ENST00000405392.1_Silent_p.K495K	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	908					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCTCTCTTCTTGGACCCCA	0.582000													40	27					0	0	0.006999	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141329	21141329	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:21141329G>A	ENST00000215727.5	+	5	1758	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.R492K	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	492					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	p.R492T(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TTCATGGGAAGAGTGGCCAAC	0.562000													7	37					0	0	0.004482	0	0
SYT8	90019	broad.mit.edu	37	11	1856543	1856543	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856543A>C	ENST00000535046.1	+	3	568	c.568A>C	c.(568-570)Att>Ctt	p.I190L	SYT8_ENST00000381968.3_Missense_Mutation_p.I52L|SYT8_ENST00000436964.2_Missense_Mutation_p.I38L|SYT8_ENST00000341958.3_Missense_Mutation_p.I38L			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	52	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGGCTCTCATTGCCGGCGC	0.677000													20	42					0	0	0.003954	0	0
POT1	25913	broad.mit.edu	37	7	124482960	124482960	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:124482960T>A	ENST00000357628.3	-	13	1662	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I	POT1_ENST00000393329.1_Missense_Mutation_p.K224I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	355					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGAGGAGCTTTTTGTTTCAA	0.353000													19	72					0	0	0.006122	0	0
KCNH4	23415	broad.mit.edu	37	17	40323937	40323937	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40323937G>A	ENST00000264661.3	-	7	1396	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S355F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	355					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTGCACTGAGAGTACCGCTC	0.637000													7	14					0	0	0.001984	0	0
RSPO4	343637	broad.mit.edu	37	20	947851	947851	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:947851G>A	ENST00000217260.4	-	3	471	c.375C>T	c.(373-375)ggC>ggT	p.G125G	RSPO4_ENST00000400634.2_Silent_p.G125G	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	125					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGGCCAAAGTGCCCGGCGGGC	0.652000													9	27					0	0	0.008291	0	0
SYT8	90019	broad.mit.edu	37	11	1856355	1856355	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856355C>G	ENST00000535046.1	+	2	476	c.476C>G	c.(475-477)tCt>tGt	p.S159C	SYT8_ENST00000381968.3_Missense_Mutation_p.S21C|SYT8_ENST00000436964.2_Missense_Mutation_p.S7C|SYT8_ENST00000341958.3_Missense_Mutation_p.S7C			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	21	C2 1.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACCAGTCTCTCCCAGTGCC	0.662000													5	37					0	0	0.000602	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078519	40078519	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40078519G>A	ENST00000336649.4	+	38	5701	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1895K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1895K|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1860K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1860K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1860K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1895					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACCCACCTGAGCCCATGCG	0.607000													23	50					0	0	0.007291	0	0
TMED6	146456	broad.mit.edu	37	16	69385466	69385466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69385466C>T	ENST00000564737.1	-	1	167	c.168G>A	c.(166-168)tgG>tgA	p.W56*	RP11-343C2.9_ENST00000563634.1_Intron|TMED6_ENST00000288025.3_Missense_Mutation_p.G64E																							ATAGAAGTATCCAGTCTGGTG	0.483000													24	44					0	0	0.003954	0	0
CREB3L3	84699	broad.mit.edu	37	19	4164618	4164618	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4164618C>T	ENST00000078445.2	+	5	842	c.695C>T	c.(694-696)aCt>aTt	p.T232I	CREB3L3_ENST00000252587.3_Missense_Mutation_p.T172I|CREB3L3_ENST00000595923.1_Missense_Mutation_p.T231I|CREB3L3_ENST00000602147.1_Missense_Mutation_p.T232I|CREB3L3_ENST00000602257.1_Missense_Mutation_p.T230I	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	232					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGCCCACTCAGCTGCCC	0.582000													20	26					0	0	0.008871	0	0
FOXS1	2307	broad.mit.edu	37	20	30432733	30432733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30432733C>T	ENST00000375978.3	-	1	687	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	205					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						ACGGGGAGCTCCCCTGGGCAT	0.612000													4	36					0	0	0.009096	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702367	84702367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:84702367G>A	ENST00000284136.6	-	4	449	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	SEMA3D_ENST00000444867.1_Nonsense_Mutation_p.Q136*	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	136	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTATAGGGCTGAAGTACTCTG	0.348000													20	61					0	0	0.012319	0	0
HRAS	3265	broad.mit.edu	37	11	533785	533785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:533785C>T	ENST00000417302.1	-	3	458	c.271G>A	c.(271-273)Gag>Aag	p.E91K	HRAS_ENST00000397596.2_Missense_Mutation_p.E91K|HRAS_ENST00000451590.1_Missense_Mutation_p.E91K|HRAS_ENST00000311189.7_Missense_Mutation_p.E91K|HRAS_ENST00000397594.1_Missense_Mutation_p.E91K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	91					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TGGATGTCCTCAAAAGACTTG	0.657000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			20	35					0	0	0.010504	0	0
WIPF2	147179	broad.mit.edu	37	17	38421182	38421182	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38421182C>A	ENST00000323571.4	+	5	994	c.754C>A	c.(754-756)Cct>Act	p.P252T	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P252T|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.P252T|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	252	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGCTCCTCCTCCTCCGCCTTA	0.597000										HNSCC(43;0.11)			44	112					5.34276e-22	5.66561e-22	0.014410	1	0
ENTPD3	956	broad.mit.edu	37	3	40456182	40456182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:40456182G>A	ENST00000301825.3	+	6	566	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	ENTPD3_ENST00000445129.1_Missense_Mutation_p.E150K|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.E150K|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	150						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTTGCAAAATGAAACAGCAGC	0.423000													55	53					0	0	0.014410	0	0
NFATC1	4772	broad.mit.edu	37	18	77211716	77211716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:77211716G>A	ENST00000587635.1	+	6	1812	c.1718G>A	c.(1717-1719)aGa>aAa	p.R573K	NFATC1_ENST00000427363.2_Silent_p.Q601Q|NFATC1_ENST00000329101.4_Silent_p.Q588Q|NFATC1_ENST00000253506.5_Silent_p.Q601Q|NFATC1_ENST00000545796.1_Silent_p.Q129Q|NFATC1_ENST00000397790.2_Silent_p.Q129Q|NFATC1_ENST00000542384.1_Silent_p.Q601Q|NFATC1_ENST00000586434.1_Silent_p.Q588Q|NFATC1_ENST00000591814.1_Silent_p.Q601Q|NFATC1_ENST00000318065.5_Silent_p.Q588Q|NFATC1_ENST00000592223.1_Silent_p.Q588Q			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	243	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGAGAAGCAGAGCACGGACA	0.627000													13	21					0	0	0.001855	0	0
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:113850098C>T	ENST00000383673.2	-	6	1303	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000460779.1_Silent_p.A291A	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	291					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542000													27	222					0	0	0.008361	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500387	90500387	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:90500387C>T	ENST00000325643.5	+	4	1051	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ATCCCAGCCACGGCATCTTCC	0.617000													18	10					0	0	0.010504	0	0
USP9Y	8287	broad.mit.edu	37	Y	14885824	14885824	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885824G>T	ENST00000338981.3	+	17	3241	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	766					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TATGATGGATGATTTGGAATT	0.313000													18	6					1.33834e-09	1.39207e-09	0.007413	1	0
LRP4	4038	broad.mit.edu	37	11	46890629	46890629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:46890629C>T	ENST00000378623.1	-	32	4989	c.4747G>A	c.(4747-4749)Gac>Aac	p.D1583N	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1583					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAGTATTTGTCAACACGCTGG	0.507000													21	35					0	0	0.010504	0	0
TMEM181	57583	broad.mit.edu	37	6	159052907	159052907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159052907C>T	ENST00000367090.3	+	17	1837	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	609					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		AAGGAGGAGTCAGATAGTGAC	0.557000													3	4					0	0	0.004672	0	0
MAOA	4128	broad.mit.edu	37	X	43587477	43587477	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:43587477C>A	ENST00000338702.3	+	6	684	c.561C>A	c.(559-561)caC>caA	p.H187Q	MAOA_ENST00000542639.1_Missense_Mutation_p.H54Q|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	187					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CTGAGCCTCACGAAGTGTCTG	0.478000													43	101					1.22674e-20	1.30024e-20	0.008740	1	0
TMC4	147798	broad.mit.edu	37	19	54664083	54664083	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54664083C>T	ENST00000376591.4	-	15	2230	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q	TMC4_ENST00000416963.1_Missense_Mutation_p.R282Q|TMC4_ENST00000301187.4_Missense_Mutation_p.R694Q	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	700						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACAGCGCGCCGTGCCAGGAA	0.612000													30	235					0	0	0.009535	0	0
SPAG16	79582	broad.mit.edu	37	2	214174842	214174842	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:214174842C>T	ENST00000413312.1	+	3	492	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SPAG16_ENST00000331683.5_Silent_p.L113L|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Silent_p.L113L|SPAG16_ENST00000432529.2_Silent_p.L113L|SPAG16_ENST00000272898.7_Silent_p.L113L|SPAG16_ENST00000414961.2_3'UTR			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	113					cilium assembly	cilium axoneme|flagellar axoneme		p.L113L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAGACTTTCTCTGCAATTTCT	0.318000													27	57					0	0	0.006320	0	0
RBL1	5933	broad.mit.edu	37	20	35627227	35627227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:35627227G>A	ENST00000373664.3	-	22	3208	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1048					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATTTTCTTGACAGACGCGT	0.398000													59	85					0	0	0.014410	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587870	86587870	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:86587870G>C	ENST00000376263.3	-	10	757	c.534C>G	c.(532-534)atC>atG	p.I178M	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376264.2_Missense_Mutation_p.I178M|HNRNPK_ENST00000376281.4_Missense_Mutation_p.I178M|HNRNPK_ENST00000360384.5_Missense_Mutation_p.I178M|HNRNPK_ENST00000351839.3_Missense_Mutation_p.I178M	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	178	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 2.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGAAAAGCTTGATGGTGGTTT	0.353000													21	95					0	0	0.010504	0	0
NAV3	89795	broad.mit.edu	37	12	78513245	78513245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513245C>T	ENST00000397909.2	+	15	3442	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	NAV3_ENST00000266692.7_Missense_Mutation_p.S1090F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1090F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1090F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1090	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAGTGGCTCTGCAACACTG	0.483000										HNSCC(70;0.22)			13	62					0	0	0.004007	0	0
TMEM115	11070	broad.mit.edu	37	3	50396052	50396052	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:50396052G>A	ENST00000266025.3	-	1	989	c.443C>T	c.(442-444)gCa>gTa	p.A148V	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	148					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCTTGAGTGCCACCAGGAC	0.622000													14	14					0	0	0.001855	0	0
GPR83	10888	broad.mit.edu	37	11	94113882	94113882	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113882G>A	ENST00000243673.2	-	4	876	c.705C>T	c.(703-705)ttC>ttT	p.F235F	GPR83_ENST00000539203.2_Silent_p.F193F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	235						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTACTTCCAGAAGAGGTCAG	0.587000													5	20					0	0	0.000602	0	0
SHANK1	50944	broad.mit.edu	37	19	51219555	51219555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51219555C>G	ENST00000293441.1	-	2	454	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.E146Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E146Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	146					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCCCCTTCTCAAAGGACTGG	0.582000													47	75					0	0	0.014410	0	0
MAGI2	9863	broad.mit.edu	37	7	78130895	78130895	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:78130895C>G	ENST00000354212.4	-	5	1217	c.964G>C	c.(964-966)Gac>Cac	p.D322H	MAGI2_ENST00000535697.1_Splice_Site_p.D159H|MAGI2_ENST00000522391.1_Splice_Site_p.D322H|MAGI2_ENST00000419488.1_Splice_Site_p.D322H|MAGI2_ENST00000536571.1_Splice_Site_p.D154H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	322	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAACTCACTCAATGAAGTAG	0.388000													17	74					0	0	0.006122	0	0
DNAJA1	3301	broad.mit.edu	37	9	33026956	33026956	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:33026956G>A	ENST00000330899.4	+	3	461	c.278G>A	c.(277-279)gGa>gAa	p.G93E	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	93	Gly-rich.				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		ATGTTTTTTGGAGGAGGAGGA	0.438000													60	32					0	0	0.014410	0	0
TTLL5	23093	broad.mit.edu	37	14	76238194	76238194	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:76238194G>C	ENST00000298832.9	+	21	2338	c.2133G>C	c.(2131-2133)caG>caC	p.Q711H	TTLL5_ENST00000554510.1_Missense_Mutation_p.Q220H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q262H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q725H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	711					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGATGAACAGATGGTAAGGC	0.393000													37	53					0	0	0.005524	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947819	40947819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40947819G>A	ENST00000322354.3	-	2	665	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	SERTAD3_ENST00000392028.4_Missense_Mutation_p.L57F	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	57	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTATGGATGAGGACATGCCTG	0.662000													5	11					0	0	0.001168	0	0
MRPL45	84311	broad.mit.edu	37	17	36476600	36476600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36476600G>A	ENST00000312513.5	+	6	770	c.609G>A	c.(607-609)atG>atA	p.M203I		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	203					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAAGTATGATGAACCAGGGCA	0.507000													110	114					0	0	0.014410	0	0
DTX4	23220	broad.mit.edu	37	11	58940200	58940200	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:58940200G>A	ENST00000227451.3	+	1	236	c.132G>A	c.(130-132)gtG>gtA	p.V44V	DTX4_ENST00000532982.1_Intron	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	44	WWE 1.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ggggcAGCGTGGTGCTGGGCC	0.706000													5	1					0	0	0.000602	0	0
MEIS3	56917	broad.mit.edu	37	19	47910774	47910774	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:47910774G>A	ENST00000331559.5	-	9	1298	c.857C>T	c.(856-858)tCc>tTc	p.S286F	MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000561293.1_Missense_Mutation_p.S303F|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000558555.1_Intron|MEIS3_ENST00000559524.1_Missense_Mutation_p.S303F	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGGGGATGGGGAGCCCAGGCC	0.682000													5	25					0	0	0.000602	0	0
KCTD11	147040	broad.mit.edu	37	17	7256381	7256381	+	Silent	SNP	G	G	A	rs144008002		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7256381G>A	ENST00000333751.3	+	1	1174	c.120G>A	c.(118-120)ctG>ctA	p.L40L	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	40	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TCAATTTCCTGAGGCTGGGCC	0.667000													32	6					0	0	0.008361	0	0
TBX3	6926	broad.mit.edu	37	12	115120680	115120680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:115120680G>A	ENST00000349155.2	-	1	1289	c.326C>T	c.(325-327)gCt>gTt	p.A109V	TBX3_ENST00000257566.3_Missense_Mutation_p.A109V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	109					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGTTCTTTAGCCTCCAGGTG	0.592000													31	49					0	0	0.013726	0	0
ANAPC11	51529	broad.mit.edu	37	17	79857411	79857411	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79857411G>A	ENST00000357385.3	+	3	539	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000392376.3_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGGCCCAGGGCCTGTAGGTC	0.577000													9	28					0	0	0.008291	0	0
IGF2R	3482	broad.mit.edu	37	6	160500612	160500612	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160500612G>C	ENST00000356956.1	+	38	5627	c.5479G>C	c.(5479-5481)Gtg>Ctg	p.V1827L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1827					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTTGTCCAGGTGACTCGCGA	0.577000													3	11					0	0	0.004672	0	0
HSPG2	3339	broad.mit.edu	37	1	22173059	22173059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173059G>A	ENST00000374695.3	-	63	8277	c.8198C>T	c.(8197-8199)tCa>tTa	p.S2733L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2733	Ig-like C2-type 13.				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)	TGAGGAGGATGACTCAATTCT	0.627000													15	60					0	0	0.004007	0	0
TMC4	147798	broad.mit.edu	37	19	54666432	54666432	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54666432G>A	ENST00000376591.4	-	10	1625	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	TMC4_ENST00000416963.1_Silent_p.V80V|TMC4_ENST00000301187.4_Silent_p.V492V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	498						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGCAGCGCGACTGCCAAGA	0.547000													4	36					0	0	0.009096	0	0
P4HB	5034	broad.mit.edu	37	17	79803467	79803467	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79803467G>A	ENST00000331483.4	-	9	1551	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	P4HB_ENST00000439918.2_Silent_p.L399L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	443	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAAAGAACTTGAGTGTGGGGA	0.622000													11	11					0	0	0.010729	0	0
CUL9	23113	broad.mit.edu	37	6	43190340	43190340	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43190340C>T	ENST00000252050.4	+	37	7077	c.6993C>T	c.(6991-6993)ttC>ttT	p.F2331F	CUL9_ENST00000372647.2_Silent_p.F2303F|CUL9_ENST00000354495.3_Silent_p.F2221F|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2331					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTTCACCTTCCTCAATGATG	0.607000													27	39					0	0	0.006320	0	0
TGM1	7051	broad.mit.edu	37	14	24731453	24731453	+	Missense_Mutation	SNP	G	G	A	rs145197904	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24731453G>A	ENST00000206765.6	-	2	229	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	36	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCTCCTCTGCGAGAGCGTCCG	0.647000													9	32					0	0	0.008291	0	0
PRDM8	56978	broad.mit.edu	37	4	81123465	81123465	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:81123465C>T	ENST00000339711.4	+	10	2080	c.849C>T	c.(847-849)ctC>ctT	p.L283L	PRDM8_ENST00000504452.1_Silent_p.L283L|PRDM8_ENST00000415738.2_Silent_p.L283L	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCCAGAGCCTCAgcagcggta	0.701000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	0.009096	0	0
FOXJ3	22887	broad.mit.edu	37	1	42647606	42647606	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42647606G>C	ENST00000372572.1	-	14	2046	c.1735C>G	c.(1735-1737)Cca>Gca	p.P579A	FOXJ3_ENST00000361776.1_Missense_Mutation_p.P545A|FOXJ3_ENST00000372571.1_Missense_Mutation_p.P93A|FOXJ3_ENST00000545068.1_Missense_Mutation_p.P579A|FOXJ3_ENST00000372573.1_Missense_Mutation_p.P579A|FOXJ3_ENST00000361346.1_Missense_Mutation_p.P579A	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	579					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTGTTCCTGGAGTGCTGAGT	0.488000													7	25					0	0	0.001984	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946811	186946811	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:186946811G>T	ENST00000367466.3	+	16	2003	c.1851G>T	c.(1849-1851)ctG>ctT	p.L617L	PLA2G4A_ENST00000442353.2_Silent_p.L557L	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	617	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGAAGGGCTGAAGGAGTGCT	0.423000													27	81					1.77063e-15	1.86581e-15	0.005443	1	0
FAM71F2	346653	broad.mit.edu	37	7	128317717	128317717	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:128317717C>A	ENST00000480462.1	+	3	571	c.465C>A	c.(463-465)ctC>ctA	p.L155L	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Silent_p.L146L|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	155										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						ATCTGAAGCTCCACGAAAAAC	0.502000													17	39					1.15919e-05	1.18533e-05	0.008871	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293493	145293493	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145293493G>A	ENST00000342960.5	+	1	123	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Missense_Mutation_p.E30K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	30										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCTGGCAGAGAAGAAACA	0.483000													47	796					0	0	0.014410	0	0
TYK2	7297	broad.mit.edu	37	19	10488945	10488945	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10488945G>A	ENST00000525621.1	-	3	619	c.138C>T	c.(136-138)ttC>ttT	p.F46F	TYK2_ENST00000264818.6_Silent_p.F46F|TYK2_ENST00000529370.1_Silent_p.F46F|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	46	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ATGACTCACTGAAAGTGACCC	0.622000													16	28					0	0	0.006122	0	0
ZNF589	51385	broad.mit.edu	37	3	48309504	48309504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48309504C>T	ENST00000354698.3	+	4	395	c.323C>T	c.(322-324)cCa>cTa	p.P108L	ZNF589_ENST00000440261.2_Missense_Mutation_p.P107L|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	108	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCCTATTCCAGGTTTCCAT	0.507000													17	60					0	0	0.004007	0	0
FAM162B	221303	broad.mit.edu	37	6	117086385	117086385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117086385G>A	ENST00000368557.4	-	2	352	c.206C>T	c.(205-207)cCt>cTt	p.P69L		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	69						integral to membrane				large_intestine(2)|lung(4)	6						GAACTGCGAAGGCCTGCGCTG	0.627000													16	25					0	0	0.004990	0	0
CDKN2D	1032	broad.mit.edu	37	19	10677925	10677925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10677925C>T	ENST00000393599.2	-	2	634	c.310G>A	c.(310-312)Gat>Aat	p.D104N	CDKN2D_ENST00000335766.2_Missense_Mutation_p.D104N	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	104					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCGGTGCCATCAGGCACGTTG	0.597000													39	105					0	0	0.004878	0	0
ETV1	2115	broad.mit.edu	37	7	13975376	13975376	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:13975376G>C	ENST00000343495.5	-	7	1195	c.457C>G	c.(457-459)Cca>Gca	p.P153A	ETV1_ENST00000405192.2_Missense_Mutation_p.P171A|ETV1_ENST00000420159.2_Missense_Mutation_p.P113A|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Missense_Mutation_p.P153A|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.P171A|ETV1_ENST00000403685.1_Missense_Mutation_p.P153A|ETV1_ENST00000403527.1_Missense_Mutation_p.P131A|ETV1_ENST00000405358.4_Missense_Mutation_p.P185A|ETV1_ENST00000405218.2_Missense_Mutation_p.P171A			P50549	ETV1_HUMAN	ets variant 1	171					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACTGCGATGGAGGGAGGTGA	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								30	176					0	0	0.009535	0	0
ANO2	57101	broad.mit.edu	37	12	5936945	5936945	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:5936945G>C	ENST00000356134.5	-	8	944	c.873C>G	c.(871-873)aaC>aaG	p.N291K	ANO2_ENST00000546188.1_Missense_Mutation_p.N291K|ANO2_ENST00000327087.8_Missense_Mutation_p.N290K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	295						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCATCGTGTTGTTGGCTCGGG	0.657000													3	4					0	0	0.009096	0	0
WDR91	29062	broad.mit.edu	37	7	134873240	134873240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873240G>A	ENST00000354475.4	-	13	1857	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Missense_Mutation_p.S574F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	609										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GAACTCCACAGAGTAGACCTC	0.587000													34	110					0	0	0.004878	0	0
AGMO	392636	broad.mit.edu	37	7	15601351	15601351	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:15601351T>C	ENST00000342526.3	-	1	289	c.120A>G	c.(118-120)gtA>gtG	p.V40V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	40					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCACCTTTTTTACATAATCAG	0.373000													30	127					0	0	0.003271	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648197	15648197	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:15648197C>T	ENST00000269703.3	+	5	592	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CYP4F22_ENST00000601005.2_Silent_p.L131L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGGATGACCTCTTCTATGGCT	0.502000													20	72					0	0	0.003330	0	0
LRRK2	120892	broad.mit.edu	37	12	40749951	40749951	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:40749951G>A	ENST00000298910.7	+	46	6863	c.6805G>A	c.(6805-6807)Gat>Aat	p.D2269N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2269					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGGAACCGCTGATGGCAAGTT	0.274000													7	14					0	0	0.001984	0	0
RAB42	115273	broad.mit.edu	37	1	28920495	28920495	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28920495G>A	ENST00000373826.3	+	2	490	c.184G>A	c.(184-186)Gat>Aat	p.D62N	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	62					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTCGCTGATGCTATCCA	0.617000													23	11					0	0	0.014323	0	0
FGFR2	2263	broad.mit.edu	37	10	123239498	123239498	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:123239498G>A	ENST00000358487.5	-	18	2611	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FGFR2_ENST00000369061.4_Missense_Mutation_p.S668L|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.S663L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S664L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S778L|FGFR2_ENST00000369059.1_Missense_Mutation_p.S666L|FGFR2_ENST00000478859.1_Missense_Mutation_p.S552L|FGFR2_ENST00000457416.2_Missense_Mutation_p.S781L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	780					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTAACTAGGTGAATACTGTTC	0.443000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				33	87					0	0	0.013726	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23696057	23696057	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:23696057G>A	ENST00000335648.3	+	1	329	c.267G>A	c.(265-267)ctG>ctA	p.L89L	C1orf213_ENST00000437367.2_Intron|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCGTAGGCTGATCCTAAAGA	0.562000													5	30					0	0	0.001168	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283961	41283961	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41283961C>T	ENST00000347132.5	+	3	613	c.531C>T	c.(529-531)atC>atT	p.I177I	KCNQ4_ENST00000509682.2_Splice_Site_p.I177I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	177					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCTGTGTCATCGGTAATGAGG	0.647000													35	41					0	0	0.003755	0	0
FANCD2	2177	broad.mit.edu	37	3	10070355	10070355	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10070355G>C	ENST00000287647.3	+	2	107	c.14G>C	c.(13-15)aGa>aCa	p.R5T	FANCD2_ENST00000383806.1_Missense_Mutation_p.R5T|FANCD2_ENST00000419585.1_Missense_Mutation_p.R5T|FANCD2_ENST00000383807.1_Missense_Mutation_p.R5T|FANCD2_ENST00000431693.1_Missense_Mutation_p.R5T	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	5	Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTTTCCAAAAGAAGACTGTCA	0.388000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	105					0	0	0.001984	0	0
AGT	183	broad.mit.edu	37	1	230845940	230845940	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:230845940C>T	ENST00000366667.4	-	2	871	c.657G>A	c.(655-657)ctG>ctA	p.L219L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	219					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	ACGGCTGCTTCAGGTGCAGGC	0.617000													16	23					0	0	0.004007	0	0
NLRC5	84166	broad.mit.edu	37	16	57062240	57062240	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57062240G>A	ENST00000436936.1	+	8	2411	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	NLRC5_ENST00000262510.6_Missense_Mutation_p.R729Q|NLRC5_ENST00000539144.1_Missense_Mutation_p.R729Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.R729Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	729					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATCACTGCCCGAGGCATCAGC	0.552000													43	117					0	0	0.010771	0	0
EIF4G3	8672	broad.mit.edu	37	1	21167472	21167472	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:21167472A>G	ENST00000602326.1	-	28	4371	c.3788T>C	c.(3787-3789)gTt>gCt	p.V1263A	EIF4G3_ENST00000374935.3_Missense_Mutation_p.V977A|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V747A|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V1257A|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V1257A|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V861A|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V1263A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1257	MI.				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)		TCTCACAAAAACATGTAGTAG	0.478000													29	70					0	0	0.007291	0	0
FNIP1	96459	broad.mit.edu	37	5	131039796	131039796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:131039796C>G	ENST00000307968.7	-	9	993	c.994G>C	c.(994-996)Gaa>Caa	p.E332Q	FNIP1_ENST00000511848.1_Missense_Mutation_p.E360Q|FNIP1_ENST00000307954.8_Missense_Mutation_p.E315Q|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E360Q	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATGTGGCTTTCAAAGAGAGGA	0.274000													14	55					0	0	0.002450	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33591402	33591402	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33591402G>C	ENST00000252015.2	-	18	2156	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	TRPC4AP_ENST00000451813.2_Silent_p.L681L|TRPC4AP_ENST00000432634.2_Silent_p.L650L|TRPC4AP_ENST00000539834.1_Silent_p.L291L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	689					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCTGGTGTTGAGGCAGCTGA	0.662000													5	24					0	0	0.001168	0	0
ZNF841	284371	broad.mit.edu	37	19	52568426	52568426	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52568426G>A	ENST00000389534.4	-	7	3168	c.2709C>T	c.(2707-2709)aaC>aaT	p.N903N	ZNF841_ENST00000594295.1_Silent_p.N903N|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Silent_p.N479N|ZNF841_ENST00000426391.2_Silent_p.N787N	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TAGTTGTAAGGTTCTCTCCAG	0.368000													9	62					0	0	0.006214	0	0
INSR	3643	broad.mit.edu	37	19	7152923	7152923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7152923G>A	ENST00000341500.5	-	10	2084	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	INSR_ENST00000302850.5_Missense_Mutation_p.S682L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	682	Fibronectin type-III 1.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGTCCTCGAGGGCAGCTT	0.537000													22	49					0	0	0.014323	0	0
PDGFB	5155	broad.mit.edu	37	22	39629484	39629484	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39629484G>C	ENST00000331163.6	-	3	993	c.206C>G	c.(205-207)tCt>tGt	p.S69C	PDGFB_ENST00000381551.4_Missense_Mutation_p.S54C	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	69					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CTCGCCTCCAGAGTGGGAGCG	0.607000			T	COL1A1	DFSP								10	34					0	0	0.006214	0	0
OR8J3	81168	broad.mit.edu	37	11	55904807	55904807	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:55904807G>C	ENST00000301529.1	-	1	387	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATGTAGAGCAGAGGGTTACAA	0.507000													20	105					0	0	0.005443	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66291352	66291352	+	Splice_Site	SNP	C	C	G	rs141255069	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66291352C>G	ENST00000419755.3	+	11	1298	c.1220C>G	c.(1219-1221)cCg>cGg	p.P407R	BBS1_ENST00000393994.2_Intron|BBS1_ENST00000455748.2_Splice_Site_p.P273R|BBS1_ENST00000318312.7_Splice_Site_p.P370R|BBS1_ENST00000529766.1_3'UTR|ZDHHC24_ENST00000526986.1_Intron																							ATCCACACCCCGGTGAGCCCC	0.602000													6	57					0	0	0.001984	0	0
PAGE5	90737	broad.mit.edu	37	X	55247849	55247849	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:55247849G>A	ENST00000289619.5	+	2	339	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	PAGE5_ENST00000374952.1_Missense_Mutation_p.E12K|PAGE5_ENST00000374955.3_Missense_Mutation_p.E12K	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	32										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CCAATCCTCAGAAAGAGGAAA	0.328000													19	24					0	0	0.007413	0	0
ZNF786	136051	broad.mit.edu	37	7	148771522	148771522	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:148771522A>G	ENST00000451334.3	-	4	654	c.143T>C	c.(142-144)gTt>gCt	p.V48A	ZNF786_ENST00000491431.1_Missense_Mutation_p.V85A|ZNF786_ENST00000316286.9_5'UTR			Q8N393	ZN786_HUMAN	zinc finger protein 786	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATGCATATCAACAGAGGAGCA	0.428000													10	40					0	0	0.006214	0	0
NAGLU	4669	broad.mit.edu	37	17	40689536	40689536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40689536G>A	ENST00000225927.2	+	2	605	c.504G>A	c.(502-504)tgG>tgA	p.W168*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	168						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CACTGGCCTGGAGCGGCCAGG	0.647000													11	35					0	0	0.008291	0	0
CNOT3	4849	broad.mit.edu	37	19	54649696	54649696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54649696G>T	ENST00000406403.1	+	8	2357	c.754G>T	c.(754-756)Gag>Tag	p.E252*	CNOT3_ENST00000221232.5_Nonsense_Mutation_p.E252*|CNOT3_ENST00000358389.3_Nonsense_Mutation_p.E71*			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	252					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGAGGATGAGATCTTCAA	0.642000													17	73					1.10513e-12	1.15837e-12	0.014323	1	0
USHBP1	83878	broad.mit.edu	37	19	17375060	17375060	+	Missense_Mutation	SNP	G	G	A	rs149022063	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17375060G>A	ENST00000252597.3	-	2	222	c.49C>T	c.(49-51)Cca>Tca	p.P17S	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.L2L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	17							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTTACGGGTGGAGCATGCCTC	0.652000													4	21					0	0	0.000602	0	0
DIP2B	57609	broad.mit.edu	37	12	51130885	51130885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51130885C>G	ENST00000301180.5	+	35	4202	c.4168C>G	c.(4168-4170)Ctt>Gtt	p.L1390V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1390						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGACTCTCACCTTGGAGAGGT	0.358000													37	143					0	0	0.006230	0	0
RPS4X	6191	broad.mit.edu	37	X	71494972	71494972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494972C>T	ENST00000316084.6	-	4	395	c.291G>A	c.(289-291)gaG>gaA	p.E97E	RPS4X_ENST00000373626.3_Silent_p.E97E|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	97	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					GACGGAAATTCTCTCCCGTCT	0.483000													10	6					0	0	0.008291	0	0
MEN1	4221	broad.mit.edu	37	11	64577195	64577195	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64577195G>A	ENST00000337652.1	-	2	890	c.387C>T	c.(385-387)ctC>ctT	p.L129L	MEN1_ENST00000315422.4_Silent_p.L129L|MEN1_ENST00000443283.1_Silent_p.L129L|MEN1_ENST00000377316.2_Silent_p.L129L|MEN1_ENST00000377326.3_Silent_p.L129L|MEN1_ENST00000377321.1_Silent_p.L129L|MEN1_ENST00000377313.1_Silent_p.L129L|MEN1_ENST00000394376.1_Silent_p.L129L|MEN1_ENST00000394374.2_Silent_p.L129L|MEN1_ENST00000312049.6_Silent_p.L129L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	129					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.I125fs*53(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGAGCGGCTGAGGCTGTTCC	0.572000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				62	119					0	0	0.014410	0	0
ZNF836	162962	broad.mit.edu	37	19	52663830	52663830	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52663830G>A	ENST00000322146.8	-	4	551	c.30C>T	c.(28-30)ttC>ttT	p.F10F	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.F10F|ZNF836_ENST00000597065.1_Silent_p.F10F	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTACATCCCTGAATGTCAAAG	0.433000													20	174					0	0	0.008871	0	0
ADK	132	broad.mit.edu	37	10	75960592	75960592	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:75960592G>A	ENST00000372734.3	+	2	272	c.85G>A	c.(85-87)Gat>Aat	p.D29N	ADK_ENST00000286621.2_Missense_Mutation_p.D46N|ADK_ENST00000541550.1_Missense_Mutation_p.D29N|ADK_ENST00000539909.1_Missense_Mutation_p.D46N	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	46					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATTTCCTTGATAAGTAAGT	0.328000													13	42					0	0	0.001855	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362485	55362485	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:55362485A>C	ENST00000536015.1	-	10	977	c.858T>G	c.(856-858)ttT>ttG	p.F286L	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.F286L|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	286					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CATCCAAAGGAAAACTTGTGT	0.343000													20	47					0	0	0.012319	0	0
KLHDC2	23588	broad.mit.edu	37	14	50238388	50238388	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:50238388G>A	ENST00000298307.5	+	2	1091	c.230G>A	c.(229-231)aGa>aAa	p.R77K	KLHDC2_ENST00000554589.1_Missense_Mutation_p.R77K|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.R77K	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	77						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGACTGGAAGATGGTAAATG	0.393000													19	54					0	0	0.006122	0	0
USP26	83844	broad.mit.edu	37	X	132162129	132162129	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:132162129C>T	ENST00000511190.1	-	6	589	c.120G>A	c.(118-120)ctG>ctA	p.L40L	USP26_ENST00000406273.1_Silent_p.L40L|USP26_ENST00000370832.1_Silent_p.L40L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	40					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTTGAAATACAGCACCAGTC	0.353000													23	17					0	0	0.012319	0	0
ZBTB41	360023	broad.mit.edu	37	1	197145778	197145778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:197145778C>T	ENST00000367405.4	-	7	1863	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTTTTATCATCATGATGTACT	0.303000													59	71					0	0	0.014410	0	0
PBX4	80714	broad.mit.edu	37	19	19675894	19675894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19675894G>A	ENST00000251203.9	-	6	1059	c.773C>T	c.(772-774)tCt>tTt	p.S258F		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AAACCAGTTAGAGACCTGCGG	0.532000													123	129					0	0	0.014410	0	0
MINA	84864	broad.mit.edu	37	3	97668720	97668720	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:97668720G>A	ENST00000333396.7	-	7	1610	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	MINA_ENST00000360258.4_Missense_Mutation_p.S342F|MINA_ENST00000394198.2_Missense_Mutation_p.S343F	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						ATCTCCCGCAGAGTAAGGGGG	0.522000													11	60					0	0	0.001855	0	0
SEPT1	1731	broad.mit.edu	37	16	30390418	30390418	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390418C>T	ENST00000321367.3	-	10	1033	c.988G>A	c.(988-990)Gat>Aat	p.D330N	SEPT1_ENST00000571393.1_Missense_Mutation_p.D283N|SEPT1_ENST00000605106.1_Missense_Mutation_p.D288N	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	283					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TAGAGCAGATCGTGCGTCACC	0.667000													11	45					0	0	0.013537	0	0
SPO11	23626	broad.mit.edu	37	20	55918412	55918412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:55918412G>A	ENST00000371263.3	+	13	1196	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	SPO11_ENST00000345868.4_Missense_Mutation_p.D325N|SPO11_ENST00000371260.4_Missense_Mutation_p.D321N	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	363					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AATAATGGCAGACTCTAAAAT	0.323000								Editing and processing nucleases					48	91					0	0	0.014410	0	0
CBX2	84733	broad.mit.edu	37	17	77758613	77758613	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77758613G>A	ENST00000310942.4	+	5	1475	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	457					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTGCCAGAGATGAGCGCAG	0.672000													4	8					0	0	0.001168	0	0
SIN3A	25942	broad.mit.edu	37	15	75668090	75668090	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75668090G>T	ENST00000394947.3	-	20	3821	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SIN3A_ENST00000394949.4_Missense_Mutation_p.F1169L|SIN3A_ENST00000360439.4_Missense_Mutation_p.F1169L	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1169					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATTCAGCTTGAATCTACACT	0.483000													39	102					2.05212e-20	2.17401e-20	0.005524	1	0
BIRC6	57448	broad.mit.edu	37	2	32640622	32640622	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32640622G>A	ENST00000421745.2	+	10	2397	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	755					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGCCCTGTTGAATCCTTGAG	0.398000													14	79					0	0	0.002450	0	0
TAF10	6881	broad.mit.edu	37	11	6632638	6632638	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632638C>T	ENST00000299424.4	-	3	910	c.433G>A	c.(433-435)Gag>Aag	p.E145K	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	145					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGAGGCCTCAAAGCCAGCA	0.493000													21	18					0	0	0.012319	0	0
GRIK5	2901	broad.mit.edu	37	19	42557979	42557979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42557979C>T	ENST00000262895.3	-	9	1158	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	GRIK5_ENST00000593562.1_Missense_Mutation_p.E387K|GRIK5_ENST00000301218.4_Missense_Mutation_p.E387K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	387						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGCTCACCTCACGGTGGCCC	0.647000													4	28					0	0	0.001168	0	0
CERCAM	51148	broad.mit.edu	37	9	131197963	131197963	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131197963G>A	ENST00000372842.1	+	13	4477	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	CERCAM_ENST00000372838.4_Missense_Mutation_p.D523N			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	523					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGGCCACGGGACCTGGTGGC	0.657000													7	25					0	0	0.001984	0	0
LAMA5	3911	broad.mit.edu	37	20	60910092	60910092	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60910092A>G	ENST00000252999.3	-	20	2533	c.2467T>C	c.(2467-2469)Tat>Cat	p.Y823H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	823	Laminin EGF-like 10.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCAAAATAGTCAGCCTGA	0.652000													6	17					0	0	0.001984	0	0
INTS7	25896	broad.mit.edu	37	1	212118233	212118233	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:212118233C>T	ENST00000366994.3	-	19	2598	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	INTS7_ENST00000366993.3_Missense_Mutation_p.E818K|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.E783K|INTS7_ENST00000366992.3_Missense_Mutation_p.E812K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	832					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACCACTCCCTCTACCTTTAGC	0.498000													26	80					0	0	0.003954	0	0
ERCC2	2068	broad.mit.edu	37	19	45873455	45873455	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:45873455T>C	ENST00000391945.4	-	2	118	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	ERCC2_ENST00000485403.2_5'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y14C|ERCC2_ENST00000391940.4_5'UTR|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y14C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	14	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.Y14C(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGTAGTCGTACGGGAAGTA	0.682000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	27					0	0	0.001855	0	0
SELE	6401	broad.mit.edu	37	1	169696928	169696928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169696928C>G	ENST00000333360.7	-	9	1559	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.E411Q|SELE_ENST00000367775.1_Missense_Mutation_p.E349Q|SELE_ENST00000367777.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.E411Q|SELE_ENST00000367780.4_Missense_Mutation_p.E349Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	474	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GATGTGCACTCAAGTTGAGTT	0.448000													82	65					0	0	0.014410	0	0
METTL16	79066	broad.mit.edu	37	17	2310396	2310396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:2310396G>A	ENST00000609667.1	-	3	455	c.376C>T	c.(376-378)Cag>Tag	p.Q126*																								GAGCTCTTCTGAGAAACCAGA	0.557000													21	23					0	0	0.012319	0	0
N4BP2	55728	broad.mit.edu	37	4	40123254	40123254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40123254C>T	ENST00000261435.6	+	9	3939	c.3523C>T	c.(3523-3525)Cct>Tct	p.P1175S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1175						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.P1175T(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTCTAATTCTCCTGTGCCAGA	0.418000													36	82					0	0	0.003271	0	0
ZFP69B	65243	broad.mit.edu	37	1	40929203	40929203	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40929203C>T	ENST00000411995.2	+	6	1922	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.S414L	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		AGCTGTAGTTCATCCCTTATT	0.353000													20	73					0	0	0.010504	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651516	77651516	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77651516G>A	ENST00000407578.2	-	67	11757	c.11491C>T	c.(11491-11493)Ctg>Ttg	p.L3831L	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.L3793L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Silent_p.L3793L|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3793	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGGAATCCAGATCAACCTGG	0.423000													21	25					0	0	0.010504	0	0
TIMM50	92609	broad.mit.edu	37	19	39971296	39971296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39971296G>A	ENST00000314349.4	+	1	245	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATGACTTTGAATCCCAGTT	0.602000													11	41					0	0	0.010729	0	0
COG4	25839	broad.mit.edu	37	16	70546183	70546183	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70546183C>T	ENST00000323786.5	-	5	718	c.697G>A	c.(697-699)Gag>Aag	p.E233K	COG4_ENST00000393612.4_Missense_Mutation_p.E229K|COG4_ENST00000564653.1_Missense_Mutation_p.M190I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	229					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATCCCTCCTCATGCAAACCC	0.522000													22	30					0	0	0.002780	0	0
PXK	54899	broad.mit.edu	37	3	58377553	58377553	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58377553C>T	ENST00000463280.1	+	5	586	c.495C>T	c.(493-495)atC>atT	p.I165I	PXK_ENST00000302779.5_Silent_p.I181I|PXK_ENST00000484288.1_Silent_p.I198I|PXK_ENST00000383715.4_Silent_p.I181I|PXK_ENST00000536660.1_Silent_p.I61I|PXK_ENST00000383716.3_Silent_p.I165I|PXK_ENST00000356151.2_Silent_p.I198I|PXK_ENST00000479241.1_Silent_p.I181I			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	198	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGTGTCTAATCAAACTTCTGC	0.388000													75	82					0	0	0.014410	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026352	129026352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:129026352G>A	ENST00000259241.6	-	2	633	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	207					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CATATGCAACGACGTCTTCCA	0.632000													12	58					0	0	0.010729	0	0
C9orf43	257169	broad.mit.edu	37	9	116187324	116187324	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116187324G>T	ENST00000288462.4	+	9	1279	c.833G>T	c.(832-834)cGt>cTt	p.R278L	C9orf43_ENST00000374165.1_Missense_Mutation_p.R278L	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	278										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TATCCTGAACGTTTGAAGAAA	0.408000													43	46					6.57855e-14	6.90874e-14	0.009718	1	0
C17orf104	284071	broad.mit.edu	37	17	42745073	42745073	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42745073G>C	ENST00000409122.2	+	5	1936	c.1794G>C	c.(1792-1794)ggG>ggC	p.G598G	C17orf104_ENST00000409464.1_Silent_p.G432G|C17orf104_ENST00000359945.3_Silent_p.G598G	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	598										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGAAGTATGGGATAATTGAAA	0.353000													5	30					0	0	0.000602	0	0
NCAN	1463	broad.mit.edu	37	19	19359535	19359535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19359535G>T	ENST00000252575.6	+	14	3763	c.3664G>T	c.(3664-3666)Gag>Tag	p.E1222*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E673*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCCGGCAGTGGAGAATGCCTC	0.532000													7	24					2.0095e-06	2.06161e-06	0.001984	1	0
SLC12A7	10723	broad.mit.edu	37	5	1081816	1081816	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081816C>T	ENST00000264930.5	-	9	1216	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	391					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CACCTTTCTTCTCCACAAACG	0.652000													10	35					0	0	0.008291	0	0
TMEM80	283232	broad.mit.edu	37	11	703075	703075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:703075C>T	ENST00000608174.1	+	5	569	c.432C>T	c.(430-432)ctC>ctT	p.L144L	TMEM80_ENST00000397510.3_Silent_p.L192L|TMEM80_ENST00000528024.1_3'UTR|TMEM80_ENST00000397512.3_Silent_p.L136L	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGGGCCCTCAGCGCCACGC	0.701000													7	35					0	0	0.001984	0	0
INHBE	83729	broad.mit.edu	37	12	57850047	57850047	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57850047C>T	ENST00000266646.2	+	2	685	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	157					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTCCCGCACTCTCCTGGCTGA	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	102	177					0	0	0.014410	0	0
SCNN1D	6339	broad.mit.edu	37	1	1225697	1225697	+	Missense_Mutation	SNP	C	C	T	rs137911309	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1225697C>T	ENST00000338555.2	+	10	2361	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	SCNN1D_ENST00000325425.8_Missense_Mutation_p.S472F|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S406F|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S570F					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GAGACCTGCTCCTGTGGCTAC	0.672000													4	15					0	0	0.008291	0	0
CPSF4	10898	broad.mit.edu	37	7	99048377	99048377	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99048377C>T	ENST00000436336.2	+	5	617	c.456C>T	c.(454-456)ctC>ctT	p.L152L	CPSF4_ENST00000292476.5_Silent_p.L152L|CPSF4_ENST00000441580.1_Silent_p.L99L|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Silent_p.L120L|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR|ATP5J2-PTCD1_ENST00000437572.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	152					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAATTACCTCGTGGGATTCT	0.617000													20	67					0	0	0.012319	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917453	48917453	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:48917453C>T	ENST00000311378.4	+	2	1332	c.804C>T	c.(802-804)aaC>aaT	p.N268N	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.N175N	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	268	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGGTCACCAACATTGCCCAGC	0.627000													18	34					0	0	0.004990	0	0
UBC	7316	broad.mit.edu	37	12	125398075	125398075	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:125398075C>T	ENST00000536769.1	-	1	1819	c.243G>A	c.(241-243)gtG>gtA	p.V81V	UBC_ENST00000538617.1_Silent_p.V81V|UBC_ENST00000546120.1_Silent_p.V81V|UBC_ENST00000339647.5_Silent_p.V81V			P0CG48	UBC_HUMAN	ubiquitin C	81	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGTGTCTTCACGAAGATTT	0.542000													110	169					0	0	0.014410	0	0
KLK11	11012	broad.mit.edu	37	19	51527533	51527533	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51527533G>T	ENST00000594768.1	-	4	512	c.327C>A	c.(325-327)ctC>ctA	p.L109L	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Silent_p.L102L|KLK11_ENST00000319720.7_Silent_p.L77L|KLK11_ENST00000453757.3_Silent_p.L77L|KLK11_ENST00000594458.1_5'UTR	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	109	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CCTCCTTCTGGAGGTTGTGCT	0.602000													55	56					1.38814e-16	1.46488e-16	0.014410	1	0
PRDM14	63978	broad.mit.edu	37	8	70978524	70978524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:70978524G>A	ENST00000276594.2	-	5	1330	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGCTCACAGGAATATCCAGA	0.512000													20	112					0	0	0.010504	0	0
KIAA0368	23392	broad.mit.edu	37	9	114195538	114195538	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:114195538C>T	ENST00000259335.4	-	9	1356	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	KIAA0368_ENST00000338205.5_Missense_Mutation_p.D275N	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AATTCCAGGTCTGCTGCCGTT	0.413000													18	81					0	0	0.008871	0	0
ENG	2022	broad.mit.edu	37	9	130592029	130592029	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130592029G>A	ENST00000344849.3	-	3	577	c.297C>T	c.(295-297)ctC>ctT	p.L99L	ENG_ENST00000373203.4_Silent_p.L99L			P17813	EGLN_HUMAN	endoglin	99					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTTTACACTGAGGACCAGAA	0.602000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				8	31					0	0	0.004482	0	0
DPYSL4	10570	broad.mit.edu	37	10	134015509	134015509	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134015509A>C	ENST00000338492.4	+	11	1334	c.1170A>C	c.(1168-1170)aaA>aaC	p.K390N	DPYSL4_ENST00000368627.1_Missense_Mutation_p.K290N|DPYSL4_ENST00000368629.1_Missense_Mutation_p.K290N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	390					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATGCTGCCAAAATCTTCAATT	0.557000													23	126					0	0	0.003330	0	0
ADD3	120	broad.mit.edu	37	10	111881975	111881975	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:111881975G>A	ENST00000277900.8	+	9	1433	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	ADD3_ENST00000360162.3_Silent_p.V356V|ADD3_ENST00000356080.4_Silent_p.V356V	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	356						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAGGAGGTGTGAATATGGGTT	0.448000													30	70					0	0	0.012213	0	0
ZNF565	147929	broad.mit.edu	37	19	36673778	36673778	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36673778C>T	ENST00000355114.5	-	5	1936	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZNF565_ENST00000392173.2_Missense_Mutation_p.E364K|ZNF565_ENST00000304116.5_Missense_Mutation_p.E364K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCCTTACACTCATAGGGTTTC	0.488000													30	71					0	0	0.012213	0	0
GPC6	10082	broad.mit.edu	37	13	93879803	93879803	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:93879803G>A	ENST00000377047.4	+	1	709	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	32						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGCTGCGGAGAGGTCCGCCA	0.672000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	15					0	0	0.004482	0	0
VGF	7425	broad.mit.edu	37	7	100806760	100806760	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100806760G>A	ENST00000249330.2	-	2	1604	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	VGF_ENST00000445482.2_Silent_p.L455L	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	455					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					ACAGCTCAATGAGGCTGTCGA	0.657000													5	10					0	0	0.000602	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698472	96698472	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:96698472C>G	ENST00000260682.6	+	1	45	c.33C>G	c.(31-33)ctC>ctG	p.L11L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	11					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TGCTCTGTCTCTCATGTTTGC	0.478000													171	160					0	0	0.014410	0	0
AOC4P	90586	broad.mit.edu	37	17	41020689	41020689	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:41020689C>G	ENST00000585538.1	+	0	1528					NR_002773.1																						AGATCTGTGTCTACTATGCTC	0.537000													20	14					0	0	0.010504	0	0
KRCC1	51315	broad.mit.edu	37	2	88327938	88327938	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:88327938C>T	ENST00000347055.3	-	4	538	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	49										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GAATTAACCTCTCCTTTGTAC	0.418000													52	93					0	0	0.014410	0	0
AGL	178	broad.mit.edu	37	1	100327239	100327239	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:100327239C>A	ENST00000294724.4	+	3	741	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	AGL_ENST00000361522.4_Missense_Mutation_p.S71Y|AGL_ENST00000361302.3_Missense_Mutation_p.S72Y|AGL_ENST00000370163.3_Missense_Mutation_p.S88Y|AGL_ENST00000370165.3_Missense_Mutation_p.S88Y|AGL_ENST00000370161.2_Missense_Mutation_p.S72Y|AGL_ENST00000361915.3_Missense_Mutation_p.S88Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	88					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGCAACAATCTGGTTCATTT	0.313000													23	101					5.35356e-11	5.59527e-11	0.002780	1	0
DAAM2	23500	broad.mit.edu	37	6	39865036	39865036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:39865036C>G	ENST00000538976.1	+	21	2778	c.2596C>G	c.(2596-2598)Ctt>Gtt	p.L866V	RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000398904.2_Missense_Mutation_p.L866V|RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.L866V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	866	FH2.				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)					GCTGCAACATCTTCCAGAAGC	0.448000													34	80					0	0	0.003755	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123091	12123091	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:12123091C>T	ENST00000379388.2	+	4	3395	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1021					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCTCCGGCATCTGGGAACAGA	0.488000													41	954					0	0	0.008740	0	0
FANCD2	2177	broad.mit.edu	37	3	10127604	10127604	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:10127604C>T	ENST00000287647.3	+	33	3426	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	FANCD2_ENST00000383806.1_Silent_p.L1111L|FANCD2_ENST00000419585.1_Silent_p.L1111L|FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Silent_p.L1111L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1111					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGGAACTACTCAGGTGAGTCA	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				179	27					0	0	0.014410	0	0
CDH16	1014	broad.mit.edu	37	16	66945993	66945993	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:66945993C>G	ENST00000299752.4	-	13	1792	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	CDH16_ENST00000568632.1_Missense_Mutation_p.Q436H|CDH16_ENST00000565796.1_Missense_Mutation_p.Q533H|CDH16_ENST00000570262.1_Missense_Mutation_p.Q453H|CDH16_ENST00000394055.3_Missense_Mutation_p.Q533H	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	533	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCGCCACACTCTGCACCACCA	0.637000													6	22					0	0	0.001984	0	0
DHX32	55760	broad.mit.edu	37	10	127525285	127525285	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:127525285C>T	ENST00000284690.3	-	11	2693	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.E654K|DHX32_ENST00000368721.1_Missense_Mutation_p.E359K|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	735						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGTTCAGTTTCAGGGCACGTC	0.498000													15	38					0	0	0.002450	0	0
SLC36A1	206358	broad.mit.edu	37	5	150847396	150847396	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:150847396C>A	ENST00000243389.3	+	7	856	c.633C>A	c.(631-633)atC>atA	p.I211I	SLC36A1_ENST00000521925.1_Silent_p.I211I|SLC36A1_ENST00000429484.2_Silent_p.I211I|SLC36A1_ENST00000520701.1_Silent_p.I211I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	211					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TGGTTTTCATCAGGAACCTCC	0.522000													18	56					2.39187e-15	2.518e-15	0.008871	1	0
DHCR24	1718	broad.mit.edu	37	1	55352603	55352603	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352603G>A	ENST00000371269.3	-	1	288	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	RP11-67L3.5_ENST00000415336.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	64	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TGCAGGCGCGGAGCGCTGCTG	0.682000													5	11					0	0	0.000602	0	0
ISLR	3671	broad.mit.edu	37	15	74468086	74468086	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:74468086C>T	ENST00000249842.3	+	2	1244	c.887C>T	c.(886-888)cCt>cTt	p.P296L	ISLR_ENST00000395118.1_Missense_Mutation_p.P296L|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	296	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTGGCACCCCTGTGGCCAGC	0.647000													22	74					0	0	0.004656	0	0
HERC1	8925	broad.mit.edu	37	15	64017671	64017671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64017671G>A	ENST00000443617.2	-	18	3475	c.3388C>T	c.(3388-3390)Cag>Tag	p.Q1130*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1130					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGCTGGCTGAGGTAATGGC	0.448000													14	58					0	0	0.006122	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652272	36652272	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36652272G>T	ENST00000405375.1	+	2	629	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.G166C|CDKN1A_ENST00000373711.2_Missense_Mutation_p.G132C|CDKN1A_ENST00000244741.5_Missense_Mutation_p.G132C	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	132					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						AGGGTCCCCAGGTGGACCTGG	0.592000													12	27					9.05144e-12	9.4692e-12	0.001855	1	0
MUC5B	727897	broad.mit.edu	37	11	1276623	1276623	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1276623G>A	ENST00000447027.1	+	37	15968	c.15910G>A	c.(15910-15912)Gag>Aag	p.E5304K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E5301K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5301	VWFD 4.			NLV -> TLL (in Ref. 8; AAB65151).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTCTTTGCTGAGTGCCACAA	0.701000													4	5					0	0	0.000602	0	0
KDM7A	80853	broad.mit.edu	37	7	139838913	139838913	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139838913G>T	ENST00000397560.2	-	2	369	c.272C>A	c.(271-273)tCc>tAc	p.S91Y	JHDM1D_ENST00000006967.5_Missense_Mutation_p.S91Y	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		91					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCAAGGAGGAACCATGTAA	0.358000													38	98					6.03168e-27	6.40241e-27	0.004878	1	0
TTLL4	9654	broad.mit.edu	37	2	219602555	219602555	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:219602555C>T	ENST00000392102.1	+	3	496	c.156C>T	c.(154-156)atC>atT	p.I52I	TTLL4_ENST00000258398.4_Silent_p.I52I|TTLL4_ENST00000442769.1_Silent_p.I52I|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	52					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAAGCCAATCTGGAAGCTGG	0.592000													30	99					0	0	0.007291	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478215	14478215	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:14478215C>T	ENST00000581457.1	-	0	1693					NR_024076.1																						TCACAGGAATCACGCCCATTC	0.468000													5	21					0	0	0.008291	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276692	185276692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185276692C>T	ENST00000367498.3	-	6	1082	c.460G>A	c.(460-462)Gat>Aat	p.D154N	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	154	BACK.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATATAAGCATCAACCTTATTC	0.368000													34	39					0	0	0.010818	0	0
EIF5B	9669	broad.mit.edu	37	2	99984993	99984993	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99984993G>A	ENST00000289371.6	+	7	1528	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCAAAGAAGAGGCCAATTT	0.343000													35	63					0	0	0.003755	0	0
SUMF2	25870	broad.mit.edu	37	7	56141899	56141899	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141899A>G	ENST00000434526.2	+	4	460	c.429A>G	c.(427-429)gcA>gcG	p.A143A	SUMF2_ENST00000275607.9_Silent_p.A36A|SUMF2_ENST00000342190.6_Silent_p.A143A|SUMF2_ENST00000437307.2_Silent_p.A124A|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000413756.1_Silent_p.A124A	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	124						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGAAAAGGCATTTTGGAGGC	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	156					0	0	0.006999	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800029	74800029	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:74800029A>G	ENST00000305159.3	-	1	770	c.730T>C	c.(730-732)Tcc>Ccc	p.S244P		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						CTGCAGGTGGAGAAGGCTTTT	0.567000													14	20					0	0	0.004007	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599742	95599742	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:95599742G>A	ENST00000473204.1	+	0	1823																											GGGGCCGCTGGAGGCCCCGGG	0.637000													12	5					0	0	0.002450	0	0
MED13	9969	broad.mit.edu	37	17	60088352	60088352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:60088352G>A	ENST00000397786.2	-	9	1602	c.1526C>T	c.(1525-1527)tCa>tTa	p.S509L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	509					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCGGATATTTGAAAATCTCAC	0.463000													26	86					0	0	0.006320	0	0
NAV3	89795	broad.mit.edu	37	12	78513043	78513043	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:78513043G>C	ENST00000397909.2	+	15	3240	c.3067G>C	c.(3067-3069)Gag>Cag	p.E1023Q	NAV3_ENST00000266692.7_Missense_Mutation_p.E1023Q|NAV3_ENST00000536525.2_Missense_Mutation_p.E1023Q|NAV3_ENST00000228327.6_Missense_Mutation_p.E1023Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1023						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAAGCTTCTGAGAAAGGAAA	0.418000										HNSCC(70;0.22)			42	211					0	0	0.010771	0	0
NUP98	4928	broad.mit.edu	37	11	3707310	3707310	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:3707310G>C	ENST00000324932.7	-	29	4989	c.4569C>G	c.(4567-4569)ctC>ctG	p.L1523L	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1540					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCGCTGAGAGATGGGTGT	0.557000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								17	82					0	0	0.004007	0	0
PATZ1	23598	broad.mit.edu	37	22	31738885	31738885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:31738885G>A	ENST00000266269.5	-	2	1962	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PATZ1_ENST00000405309.3_Nonsense_Mutation_p.Q445*|PATZ1_ENST00000215919.3_Nonsense_Mutation_p.Q445*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.Q445*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	445					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCCCCTACCTGACACTTGTGA	0.582000													23	89					0	0	0.004656	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920200	51920200	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51920200C>T	ENST00000353836.5	-	3	647	c.426G>A	c.(424-426)ctG>ctA	p.L142L	SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Silent_p.L142L|SIGLEC10_ENST00000339313.5_Silent_p.L142L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000356298.5_Silent_p.L142L|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000525998.1_Silent_p.L142L	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	142					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTTCTGAGTCAGGGCTGGGA	0.622000													90	72					0	0	0.014410	0	0
MERTK	10461	broad.mit.edu	37	2	112751899	112751899	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:112751899G>A	ENST00000295408.4	+	9	1625	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	MERTK_ENST00000421804.2_Silent_p.T456T|MERTK_ENST00000409780.1_Silent_p.T280T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	456	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACAATGCTACGTGCACAGTGA	0.522000													71	109					0	0	0.014410	0	0
SNX7	51375	broad.mit.edu	37	1	99157196	99157196	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:99157196G>A	ENST00000370189.5	+	5	752	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000306121.3_Missense_Mutation_p.D194N			Q9UNH6	SNX7_HUMAN	sorting nexin 7	130	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCGAATTGCTGATCATCCAAC	0.338000													11	52					0	0	0.013537	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542885	154542885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154542885C>G	ENST00000409663.3	+	28	3792	c.3740C>G	c.(3739-3741)tCt>tGt	p.S1247C	KIAA0922_ENST00000409959.3_Missense_Mutation_p.S1248C|KIAA0922_ENST00000440693.1_Missense_Mutation_p.S1164C	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1247						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTTGAGAGGTCTGAGCTGAGC	0.428000													21	40					0	0	0.012319	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542198	40542198	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542198C>T	ENST00000434248.1	-	5	633	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ZNF780B_ENST00000221355.6_Missense_Mutation_p.E42K	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGGTTTCTCTCCAGTATGA	0.338000													13	102					0	0	0.001855	0	0
XKR4	114786	broad.mit.edu	37	8	56015540	56015540	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015540C>T	ENST00000327381.6	+	1	592	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTCAGCTTCCGCTGGTTTG	0.662000													11	40					0	0	0.013537	0	0
DUOX2	50506	broad.mit.edu	37	15	45386349	45386349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45386349C>T	ENST00000389039.6	-	34	5031	c.4646G>A	c.(4645-4647)tGa>tAa	p.*1549*	DUOX2_ENST00000603300.1_Silent_p.*1549*			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	0					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)		AGGACAGGCTCAGAAGTTCTC	0.557000													10	43					0	0	0.010729	0	0
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:153247165G>A	ENST00000281708.4	-	10	2866	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	FBXW7_ENST00000393956.3_Missense_Mutation_p.S370L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S546L|FBXW7_ENST00000263981.5_Missense_Mutation_p.S466L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S546L|FBXW7_ENST00000296555.5_Missense_Mutation_p.S428L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								86	27					0	0	0.014410	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138842	64138842	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64138842A>T	ENST00000528057.1	+	17	2276	c.2188A>T	c.(2188-2190)Agc>Tgc	p.S730C	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.S737C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.S489C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	737					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GAAGCTGCGGAGCGCCACCGC	0.721000													4	20					0	0	0.001168	0	0
CDH6	1004	broad.mit.edu	37	5	31302360	31302360	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:31302360C>T	ENST00000265071.2	+	6	1219	c.954C>T	c.(952-954)gtC>gtT	p.V318V	CDH6_ENST00000514738.1_Silent_p.V263V	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	318	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTTGATGTCATCACCGACC	0.453000													11	47					0	0	0.008291	0	0
ZNF615	284370	broad.mit.edu	37	19	52498046	52498046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52498046G>A	ENST00000602063.1	-	6	632	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	ZNF615_ENST00000594083.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.Q106*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.Q95*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.Q100*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGAATACTTTGATTTTGCAAG	0.348000													21	148					0	0	0.012319	0	0
TECTA	7007	broad.mit.edu	37	11	120989420	120989420	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:120989420G>C	ENST00000392793.1	+	7	1467	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	TECTA_ENST00000264037.2_Missense_Mutation_p.R399T			O75443	TECTA_HUMAN	tectorin alpha	399	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGCTATGGAAGAGTCAAGGTG	0.507000													21	42					0	0	0.008871	0	0
FAT4	79633	broad.mit.edu	37	4	126398547	126398547	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:126398547C>T	ENST00000335110.5	+	12	7320	c.7320C>T	c.(7318-7320)ttC>ttT	p.F2440F	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4199	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTATGCTTCAGTGAGCATC	0.308000													46	23					0	0	0.013114	0	0
FOXA1	3169	broad.mit.edu	37	14	38060825	38060825	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:38060825C>T	ENST00000250448.2	-	2	1225	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.L355L	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	388					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGTCCCCTTTCAGGTGCAGCT	0.637000													3	9					0	0	0.004672	0	0
ELTD1	64123	broad.mit.edu	37	1	79385973	79385973	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:79385973G>A	ENST00000370742.3	-	10	1419	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	452					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAATTTCACTGAAGAACCAGA	0.323000													25	74					0	0	0.003954	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033913	100033913	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100033913G>C	ENST00000292330.2	-	1	275	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	RP11-758P17.3_ENST00000475250.1_RNA|RP11-758P17.2_ENST00000492523.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	29	Pro-rich.																TGCGGGACTTGGGGCTCCGGG	0.726000													5	11					0	0	0.001168	0	0
PPP6C	5537	broad.mit.edu	37	9	127915852	127915852	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:127915852C>T	ENST00000451402.1	-	7	960	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	PPP6C_ENST00000373546.3_Missense_Mutation_p.R63Q|PPP6C_ENST00000415905.1_Missense_Mutation_p.R188Q|PPP6C_ENST00000373547.4_Missense_Mutation_p.R210Q	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	210					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ACCTGCTCCTCGGGGACTGAT	0.443000													10	71					0	0	0.006214	0	0
DHCR24	1718	broad.mit.edu	37	1	55352654	55352654	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:55352654C>T	ENST00000371269.3	-	1	237	c.139G>A	c.(139-141)Gat>Aat	p.D47N	RP11-67L3.5_ENST00000415336.1_RNA	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	47					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						TAGTAGATATCGAAGATAAGC	0.632000													6	14					0	0	0.004482	0	0
RIMS1	22999	broad.mit.edu	37	6	72892790	72892790	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72892790C>T	ENST00000264839.7	+	6	1616	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	RIMS1_ENST00000518273.1_Missense_Mutation_p.S539L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S539L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S539L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S539L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S539L|RIMS1_ENST00000521978.1_Missense_Mutation_p.S539L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S539L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	539					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGGCGTGTCGACGCCCGAG	0.692000													3	3					0	0	0.004672	0	0
APC2	10297	broad.mit.edu	37	19	1461114	1461114	+	Missense_Mutation	SNP	G	G	T	rs146990856		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:1461114G>T	ENST00000535453.1	+	12	3313	c.1600G>T	c.(1600-1602)Gtg>Ttg	p.V534L	APC2_ENST00000238483.4_Missense_Mutation_p.V260L|APC2_ENST00000233607.2_Missense_Mutation_p.V534L|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	534					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGGCAGCGTGACTGCCCT	0.647000													18	57					0.000132079	0.000134742	0.008871	1	0
PRDM16	63976	broad.mit.edu	37	1	3319489	3319489	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:3319489G>C	ENST00000378398.3	+	7	896	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	PRDM16_ENST00000511072.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.E271Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.E271Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E272Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.E271Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	271					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.E271Q(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTCAAGCCCGAGGGCCTTGG	0.637000			T	EVI1	"""MDS, AML"""								11	49					0	0	0.010729	0	0
SYNE2	23224	broad.mit.edu	37	14	64608747	64608747	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64608747G>A	ENST00000357395.3	+	83	15546	c.4402G>A	c.(4402-4404)Gac>Aac	p.D1468N	SYNE2_ENST00000358025.3_Missense_Mutation_p.D5083N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.D1468N|SYNE2_ENST00000554584.1_Missense_Mutation_p.D5000N|SYNE2_ENST00000555002.1_Missense_Mutation_p.D1717N|SYNE2_ENST00000344113.4_Missense_Mutation_p.D5083N			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5083					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGATGAAGACTCCGTGCA	0.383000													12	41					0	0	0.010729	0	0
LGI2	55203	broad.mit.edu	37	4	25005688	25005688	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005688G>C	ENST00000382114.4	-	8	1208	c.1023C>G	c.(1021-1023)gtC>gtG	p.V341V		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	341						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGTCTGCGATGACAAAGAACG	0.468000													70	54					0	0	0.014410	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135888197	135888197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:135888197C>T	ENST00000264158.8	+	13	1185	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S381L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S337L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	381						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTATCAGTTTCAAATATGGTA	0.338000													16	51					0	0	0.004007	0	0
NID1	4811	broad.mit.edu	37	1	236228224	236228224	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:236228224G>A	ENST00000264187.6	-	1	238	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NID1_ENST00000366595.3_Silent_p.F52F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	52					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGAGAGACGAAGTCATCCC	0.697000													11	6					0	0	0.010729	0	0
SOHLH1	402381	broad.mit.edu	37	9	138590901	138590901	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138590901G>A	ENST00000298466.5	-	2	197	c.137C>T	c.(136-138)aCg>aTg	p.T46M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T46M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	46					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CTCGGCCACCGTAGGGGCCTT	0.711000													8	12					0	0	0.004482	0	0
IPP	3652	broad.mit.edu	37	1	46211827	46211827	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46211827C>A	ENST00000396478.3	-	2	359	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	86	BTB.					actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTGAAAGATTCCTGCTTCAAT	0.398000													19	55					5.03518e-11	5.26505e-11	0.007413	1	0
NAT10	55226	broad.mit.edu	37	11	34167693	34167693	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34167693G>C	ENST00000257829.3	+	29	3238	c.3032G>C	c.(3031-3033)aGa>aCa	p.R1011T	NAT10_ENST00000531159.2_Missense_Mutation_p.R939T|NAT10_ENST00000532555.1_3'UTR|NAT10_ENST00000527971.1_Missense_Mutation_p.R274T	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	1011	Lys-rich.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGAAGAACAGAGAGACAAAG	0.358000													3	15					0	0	0.004672	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744168	140744168	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140744168G>A	ENST00000518069.1	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGGATAGACCGGGAGGA	0.542000													20	33					0	0	0.002780	0	0
ROPN1	54763	broad.mit.edu	37	3	123699230	123699230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:123699230G>A	ENST00000479867.1	-	2	347	c.99C>T	c.(97-99)ctC>ctT	p.L33L	ROPN1_ENST00000184183.4_Silent_p.L33L|ROPN1_ENST00000495093.1_Silent_p.L33L|ROPN1_ENST00000484329.1_Silent_p.L33L|ROPN1_ENST00000459660.1_Silent_p.L33L|ROPN1_ENST00000405845.3_Silent_p.L33L			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	33	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CCCACTGGATGAGGTCCTGCG	0.597000													11	25					0	0	0.003954	0	0
LPIN1	23175	broad.mit.edu	37	2	11964910	11964910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:11964910C>T	ENST00000256720.2	+	20	2759	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L	LPIN1_ENST00000404113.2_Missense_Mutation_p.S390L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S974L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S895L|LPIN1_ENST00000396099.1_Missense_Mutation_p.S931L|LPIN1_ENST00000396097.1_Missense_Mutation_p.S619L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	889					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CATTCTGCCTCAGCGTAAAAT	0.517000													63	34					0	0	0.014410	0	0
FAM102B	284611	broad.mit.edu	37	1	109171130	109171130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109171130G>A	ENST00000370035.3	+	8	1106	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	FAM102B_ENST00000405454.1_Missense_Mutation_p.E256K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	256										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCCATGTGATGAAATTGAGCA	0.408000													30	83					0	0	0.010818	0	0
OXR1	55074	broad.mit.edu	37	8	107719112	107719112	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:107719112G>C	ENST00000445937.1	+	9	1624	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	OXR1_ENST00000517566.2_Missense_Mutation_p.E455Q|OXR1_ENST00000497705.1_Missense_Mutation_p.E388Q|OXR1_ENST00000312046.6_Missense_Mutation_p.E448Q|OXR1_ENST00000442977.2_Missense_Mutation_p.E456Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.E455Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	456					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTTTCTTCATGAGAATTCGTT	0.353000													86	41					0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7583091	7583091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:7583091C>T	ENST00000379802.3	+	24	5937	c.5596C>T	c.(5596-5598)Cag>Tag	p.Q1866*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1267*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1866	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCTGAATCAGTGGAAGAC	0.453000													22	37					0	0	0.012319	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528595	24528595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24528595G>A	ENST00000342740.5	+	21	1897	c.1743G>A	c.(1741-1743)atG>atA	p.M581I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	581										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCAATGGCATGGAGGACATCG	0.642000													7	10					0	0	0.003080	0	0
IL17RC	84818	broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657000													12	70					0	0	0.004990	0	0
COG7	91949	broad.mit.edu	37	16	23436192	23436192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23436192G>A	ENST00000307149.5	-	7	1072	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	296					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCTGAGGCAGGAGGGCAGCGA	0.642000													19	47					0	0	0.008871	0	0
PPEF2	5470	broad.mit.edu	37	4	76782018	76782018	+	Missense_Mutation	SNP	C	C	T	rs148045586		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76782018C>T	ENST00000286719.7	-	17	2420	c.2064G>A	c.(2062-2064)atG>atA	p.M688I		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	688					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.M688I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTCGATATTCATGTGAGAGC	0.453000													25	84					0	0	0.003330	0	0
ANK2	287	broad.mit.edu	37	4	114232546	114232546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:114232546G>A	ENST00000357077.4	+	24	2737	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	ANK2_ENST00000394537.3_Missense_Mutation_p.R895Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R895Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R104Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R874Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	895					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R895Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGAGGACGATCTGACAGG	0.403000													9	37					0	0	0.006214	0	0
SOAT1	6646	broad.mit.edu	37	1	179320459	179320459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179320459C>G	ENST00000367619.3	+	15	1601	c.1458C>G	c.(1456-1458)ttC>ttG	p.F486L	SOAT1_ENST00000540564.1_Missense_Mutation_p.F428L|SOAT1_ENST00000539888.1_Missense_Mutation_p.F421L|SOAT1_ENST00000535686.1_Missense_Mutation_p.F222L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	486					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TAGTGGCTTTCAACTTCATTG	0.408000													57	169					0	0	0.014410	0	0
APP	351	broad.mit.edu	37	21	27326925	27326925	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:27326925C>T	ENST00000358918.3	-	13	1865	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	APP_ENST00000448388.2_Missense_Mutation_p.E446K|APP_ENST00000357903.3_Missense_Mutation_p.E537K|APP_ENST00000354192.3_Missense_Mutation_p.E425K|APP_ENST00000440126.3_Missense_Mutation_p.E532K|APP_ENST00000439274.2_Missense_Mutation_p.E500K|APP_ENST00000348990.5_Missense_Mutation_p.E481K|APP_ENST00000346798.3_Missense_Mutation_p.E556K|APP_ENST00000359726.3_Missense_Mutation_p.E500K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	556					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAATCTCCTCGGCCACTGCA	0.463000													12	25					0	0	0.010729	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64142939	64142939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:64142939C>T	ENST00000295902.6	-	5	1084	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E223K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	167	LIM zinc-binding 1.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACCAGGAGCTCATTGCAGACA	0.577000													24	23					0	0	0.012213	0	0
NOM1	64434	broad.mit.edu	37	7	156754887	156754887	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156754887G>A	ENST00000275820.3	+	5	1690	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	559	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAACAATGACATGCGCAA	0.438000													86	102					0	0	0.014410	0	0
STRADA	92335	broad.mit.edu	37	17	61781653	61781653	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:61781653G>A	ENST00000392950.4	-	9	1310	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000375840.4_Intron|STRADA_ENST00000582137.1_Intron|STRADA_ENST00000447001.3_Intron|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000580039.1_Intron|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000336174.6_Intron	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	0	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTACCCTCCTGAGCACCCTCT	0.612000													9	5					0	0	0.006214	0	0
PDE6C	5146	broad.mit.edu	37	10	95400233	95400233	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:95400233G>C	ENST00000371447.3	+	13	1794	c.1656G>C	c.(1654-1656)gtG>gtC	p.V552V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	552					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGTACACTGTGAGGAAAGGGT	0.448000													40	113					0	0	0.008740	0	0
KCNK4	50801	broad.mit.edu	37	11	64067112	64067112	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64067112A>C	ENST00000538767.1	+	6	1001	c.749A>C	c.(748-750)gAg>gCg	p.E250A	KCNK4_ENST00000422670.2_Silent_p.R366R|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539216.1_Silent_p.R366R|KCNK4_ENST00000394525.2_Silent_p.R366R			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	368						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCGCGCGCCGAGAGGTCGCCG	0.731000													4	19					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216019244	216019244	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:216019244A>G	ENST00000366943.2	-	45	9363	c.8977T>C	c.(8977-8979)Tat>Cat	p.Y2993H	USH2A_ENST00000307340.3_Missense_Mutation_p.Y2993H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2993	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGATCCAATACTCTGTGTTT	0.433000										HNSCC(13;0.011)			14	54					0	0	0.003163	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799772	119799772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:119799772G>A	ENST00000355624.3	-	2	1097	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.Q220*|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	220					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GAGAGTCGCTGAGGACCCAAG	0.438000													27	262					0	0	0.004656	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACGCACCTCAAAGCTGTTC	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	6					0	0	0.014323	0	0
SPATS2L	26010	broad.mit.edu	37	2	201342726	201342726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:201342726C>G	ENST00000358677.5	+	13	1896	c.1649C>G	c.(1648-1650)tCa>tGa	p.S550*	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409140.3_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000360760.5_Nonsense_Mutation_p.S481*|SPATS2L_ENST00000409385.1_Nonsense_Mutation_p.S490*|SPATS2L_ENST00000409718.1_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000409151.1_Nonsense_Mutation_p.S558*|SPATS2L_ENST00000409988.3_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000451764.2_Nonsense_Mutation_p.S550*|SPATS2L_ENST00000409755.3_Nonsense_Mutation_p.S580*	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GCAGTTCTCTCAGTCCCGGCT	0.562000													11	15					0	0	0.008291	0	0
RNF31	55072	broad.mit.edu	37	14	24617580	24617580	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24617580G>A	ENST00000324103.6	+	3	773	c.453G>A	c.(451-453)ctG>ctA	p.L151L	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	151	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CAGTCACACTGGAAGTACTGC	0.557000													14	16					0	0	0.004007	0	0
KIF16B	55614	broad.mit.edu	37	20	16348186	16348186	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:16348186C>T	ENST00000408042.1	-	23	3941	c.3784G>A	c.(3784-3786)Gac>Aac	p.D1262N	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGGCACTGGTCATGGCCAGAG	0.468000													19	70					0	0	0.007413	0	0
SUZ12	23512	broad.mit.edu	37	17	30302704	30302704	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:30302704G>A	ENST00000322652.5	+	7	1024	c.795G>A	c.(793-795)atG>atA	p.M265I	SUZ12_ENST00000580398.1_Missense_Mutation_p.M242I	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	265					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTAATGGAATGATTAATGGAG	0.333000			T	JAZF1	endometrial stromal tumours								15	68					0	0	0.004990	0	0
BARX1	56033	broad.mit.edu	37	9	96714549	96714549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96714549G>C	ENST00000253968.6	-	4	887	c.662C>G	c.(661-663)tCa>tGa	p.S221*	BARX1_ENST00000401724.1_Nonsense_Mutation_p.S67*	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CGTTGGAATTGAGTTCTTCTT	0.687000													5	16					0	0	0.000602	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243480080	243480080	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:243480080C>T	ENST00000366541.3	+	9	1071	c.953C>T	c.(952-954)gCa>gTa	p.A318V	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.A275V|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.A318V|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.A173V	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	318	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGATGTCTGCACTAGTTTCC	0.413000													28	50					0	0	0.006320	0	0
VPS13D	55187	broad.mit.edu	37	1	12304593	12304593	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:12304593G>A	ENST00000358136.3	+	5	496		c.e5-1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTCTTTGTAGAATGACCGCC	0.458000													68	82					0	0	0.014410	0	0
CNTRL	11064	broad.mit.edu	37	9	123924225	123924225	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:123924225G>A	ENST00000373855.1	+	33	5441	c.5181G>A	c.(5179-5181)gaG>gaA	p.E1727E	CNTRL_ENST00000238341.5_Silent_p.E1727E|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.E1175E			Q7Z7A1	CNTRL_HUMAN	centriolin	1727					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGAATTAGAGAAGACTCAGG	0.388000													57	52					0	0	0.014410	0	0
BAG3	9531	broad.mit.edu	37	10	121411190	121411190	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:121411190G>A	ENST00000369085.3	+	1	309	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	1					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AACCCAGCATGAGCGCCGCCA	0.756000													11	6					0	0	0.013537	0	0
SYT8	90019	broad.mit.edu	37	11	1856335	1856335	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1856335G>A	ENST00000341958.3	+	0	302				SYT8_ENST00000381968.3_Silent_p.K14K|SYT8_ENST00000535046.1_Silent_p.K152K|SYT8_ENST00000436964.2_De_novo_Start_InFrame			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII							acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGGTAGAAAGATGGGGCACC	0.657000													6	34					0	0	0.001168	0	0
ZNF71	58491	broad.mit.edu	37	19	57132856	57132856	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57132856C>G	ENST00000328070.6	+	3	435	c.201C>G	c.(199-201)ctC>ctG	p.L67L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	67						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGAACAAACTCTTAGGGGGCT	0.607000													9	73					0	0	0.006214	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760748	70760748	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:70760748C>T	ENST00000258111.4	+	1	693	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	78					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACTGCAGGGGCACCTCGCAGT	0.627000													23	78					0	0	0.014323	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239598	1239598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1239598G>A	ENST00000324642.3	+	6	889	c.766G>A	c.(766-768)Gac>Aac	p.D256N	SLC6A18_ENST00000296821.4_Missense_Mutation_p.D251N	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	256					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTGTGGCTGGACGCAGCCAC	0.577000													60	62					0	0	0.014410	0	0
MED13L	23389	broad.mit.edu	37	12	116418744	116418744	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:116418744C>G	ENST00000281928.3	-	23	5382		c.e23-1			NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGCACAATCTAAAGACACA	0.378000													20	45					0	0	0.007413	0	0
SPG20	23111	broad.mit.edu	37	13	36909157	36909157	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:36909157C>G	ENST00000451493.1	-	2	1028		c.e2+1		SPG20_ENST00000494062.2_Splice_Site|SPG20_ENST00000495510.1_Splice_Site|SPG20_ENST00000355182.4_Splice_Site|SPG20_ENST00000438666.2_Splice_Site	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTCGCTTACCTGAAGAAAC	0.378000													39	65					0	0	0.009718	0	0
OBSCN	84033	broad.mit.edu	37	1	228505341	228505341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228505341G>A	ENST00000570156.2	+	63	16683	c.16609G>A	c.(16609-16611)Gag>Aag	p.E5537K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E4580K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4580K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1699K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2214K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4580					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGACCCGAGTGTGTGGT	0.687000													10	17					0	0	0.008291	0	0
SQSTM1	8878	broad.mit.edu	37	5	179251010	179251010	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:179251010A>T	ENST00000389805.4	+	3	632	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S68C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S152C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S68C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S68C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	152	Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGACTTGTGTAGCGTCTGCGA	0.627000													18	41					0	0	0.007413	0	0
GAK	2580	broad.mit.edu	37	4	887189	887189	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:887189C>T	ENST00000314167.4	-	9	1076	c.966G>A	c.(964-966)gtG>gtA	p.V322V	GAK_ENST00000511163.1_Silent_p.V243V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	322					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ACTTGGGGTTCACGTTGCGGG	0.662000													9	17					0	0	0.010729	0	0
PSG7	5676	broad.mit.edu	37	19	43428961	43428961	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43428961C>T	ENST00000406070.2	-	0	1355					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tagtagaattcagggtaatgt	0.408000													20	83					0	0	0.008871	0	0
TTR	7276	broad.mit.edu	37	18	29171903	29171903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29171903G>A	ENST00000237014.3	+	1	215	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	13					transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCTTGCTGGACTGGTATTT	0.493000													17	31					0	0	0.006122	0	0
AGAP3	116988	broad.mit.edu	37	7	150814758	150814758	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:150814758C>T	ENST00000397238.2	+	5	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	AGAP3_ENST00000479901.1_Silent_p.F200F|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Silent_p.F200F|AGAP3_ENST00000335367.3_Silent_p.F380F|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	164	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTTTGTGTTCAGCCTGGAGG	0.552000													40	129					0	0	0.006230	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434194	69434194	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:69434194C>T	ENST00000317746.2	-	1	51	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	3					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ACATCCATTTCAGAGACATCC	0.408000													183	291					0	0	0.014410	0	0
CD4	920	broad.mit.edu	37	12	6926360	6926360	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6926360G>T	ENST00000011653.4	+	7	1278	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGCTGATGCTGAGTTTGAAAC	0.567000													9	18					1.12685e-05	1.15281e-05	0.004482	1	0
CSAD	51380	broad.mit.edu	37	12	53565116	53565116	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53565116C>G	ENST00000267085.4	-	8	875	c.642G>C	c.(640-642)tcG>tcC	p.S214S	CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000444623.1_Silent_p.S187S|CSAD_ENST00000453446.2_Silent_p.S187S|CSAD_ENST00000542115.1_3'UTR	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	187					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCACCTCCTTCGATGTGAATA	0.587000													35	59					0	0	0.004878	0	0
MTFP1	51537	broad.mit.edu	37	22	30822716	30822716	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30822716G>A	ENST00000439838.1	+	7	595	c.595G>A	c.(595-597)Gag>Aag	p.E199K	MTFP1_ENST00000266263.5_Missense_Mutation_p.E27K|MTFP1_ENST00000355143.4_Missense_Mutation_p.E27K|MTFP1_ENST00000407550.3_Missense_Mutation_p.E27K																							CTATGCCAATGAGGTGGGCGA	0.602000											OREG0026460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0.008291	0	0
TRRAP	8295	broad.mit.edu	37	7	98528285	98528285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:98528285C>T	ENST00000359863.4	+	25	3632	c.3423C>T	c.(3421-3423)atC>atT	p.I1141I	TRRAP_ENST00000446306.3_Silent_p.I1140I|TRRAP_ENST00000355540.3_Silent_p.I1141I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1141					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)			TTTCTTACATCGTGGAGCGCC	0.488000													104	130					0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40433739	40433739	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40433739G>A	ENST00000221347.6	-	2	537	c.530C>T	c.(529-531)tCa>tTa	p.S177L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	177	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAATGTCACTGACCCCTTCAG	0.577000													52	60					0	0	0.014410	0	0
C2CD3	26005	broad.mit.edu	37	11	73796738	73796738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:73796738C>T	ENST00000334126.7	-	21	4061	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1279K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1279	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AAACAGGCCTCTCCACTACAG	0.473000													16	34					0	0	0.003163	0	0
LHPP	64077	broad.mit.edu	37	10	126172787	126172787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126172787C>T	ENST00000368842.5	+	2	233	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	LHPP_ENST00000368839.1_Nonsense_Mutation_p.Q69*|LHPP_ENST00000392757.4_Nonsense_Mutation_p.Q69*	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	69					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGGGCAGCTTCAGAGGCTGGG	0.627000													7	34					0	0	0.010729	0	0
NPAS4	266743	broad.mit.edu	37	11	66192561	66192561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66192561G>A	ENST00000311034.2	+	7	2376	c.2200G>A	c.(2200-2202)Gag>Aag	p.E734K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	734					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCCTGAGGCAGAGGGCCCAGG	0.577000													30	139					0	0	0.007291	0	0
RARG	5916	broad.mit.edu	37	12	53609125	53609125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53609125G>A	ENST00000425354.2	-	5	914	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	RARG_ENST00000327550.3_Nonsense_Mutation_p.Q71*|RARG_ENST00000394426.1_Nonsense_Mutation_p.Q143*|RARG_ENST00000338561.5_Nonsense_Mutation_p.Q132*|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Nonsense_Mutation_p.Q121*	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	143					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGCAGTACTGGCAGCGATTC	0.547000													32	81					0	0	0.004289	0	0
FSTL4	23105	broad.mit.edu	37	5	132535121	132535121	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132535121G>A	ENST00000265342.7	-	16	2444	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	732						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGATGCCCGAGTTTATTTG	0.572000													17	37					0	0	0.004007	0	0
TTC40	54777	broad.mit.edu	37	10	134622338	134622338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134622338G>A	ENST00000368586.5	-	58	7835	c.7735C>T	c.(7735-7737)Caa>Taa	p.Q2579*	TTC40_ENST00000263170.5_Nonsense_Mutation_p.Q740*	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	740										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGACCAAGTTGAGCGTGGTGG	0.622000													5	14					0	0	0.001168	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278895	36278895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:36278895C>T	ENST00000007510.4	+	21	3572	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S979F|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S982F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1143					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCAGCCCCCTCCTGCTTTCCC	0.667000													3	8					0	0	0.004672	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094928	139094928	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139094928G>A	ENST00000332797.6	+	1	272	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	39										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGCTGCGGAGGAGCGGGTCCC	0.647000													23	131					0	0	0.009535	0	0
TUFT1	7286	broad.mit.edu	37	1	151542174	151542174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151542174G>C	ENST00000368849.3	+	7	584	c.522G>C	c.(520-522)aaG>aaC	p.K174N	TUFT1_ENST00000538902.1_Missense_Mutation_p.K193N|TUFT1_ENST00000392712.3_Missense_Mutation_p.K119N|TUFT1_ENST00000368848.2_Missense_Mutation_p.K149N|TUFT1_ENST00000353024.3_Missense_Mutation_p.K115N	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	174					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTTGAGGAAGACGGTGCAGG	0.512000													62	405					0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31587029	31587029	+	Nonsense_Mutation	SNP	G	G	A	rs140982129		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:31587029G>A	ENST00000379416.3	-	24	2674	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	876					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTCACACTCTGAGAGAGATCC	0.572000													8	54					0	0	0.003080	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495203	32495203	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:32495203C>T	ENST00000266088.4	+	12	1564	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	SLC5A1_ENST00000543737.1_Silent_p.I311I	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	438					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GCATCAGCATCGCCTGGGTGC	0.453000													47	127					0	0	0.011902	0	0
RANBP2	5903	broad.mit.edu	37	2	109352069	109352069	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:109352069G>C	ENST00000283195.6	+	5	613	c.487G>C	c.(487-489)Gat>Cat	p.D163H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	163					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAAGACCTGATGACGTCCA	0.438000													102	410					0	0	0.014410	0	0
MRPL17	63875	broad.mit.edu	37	11	6704022	6704022	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6704022C>T	ENST00000288937.6	-	2	303	c.199G>A	c.(199-201)Gac>Aac	p.D67N		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	67					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGTTAGTGTCTCCCAGCTTC	0.532000													23	9					0	0	0.005443	0	0
PTPRA	5786	broad.mit.edu	37	20	2945569	2945569	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2945569G>C	ENST00000216877.6	+	5	536	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	PTPRA_ENST00000356147.3_Missense_Mutation_p.E46Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.E57Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.E46Q|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Missense_Mutation_p.E46Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.E46Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	46					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGTTAAAGAAGAGGCCAAAAC	0.388000													31	71					0	0	0.009535	0	0
PDE7A	5150	broad.mit.edu	37	8	66631545	66631545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:66631545G>A	ENST00000401827.3	-	13	1872	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*	PDE7A_ENST00000379419.4_Nonsense_Mutation_p.Q451*	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	477						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CGATTTTCCTGAGGTAATAAC	0.478000													13	87					0	0	0.003163	0	0
HAL	3034	broad.mit.edu	37	12	96382019	96382019	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:96382019C>T	ENST00000261208.3	-	11	1224		c.e11-1		HAL_ENST00000538703.1_Splice_Site|HAL_ENST00000541929.1_Splice_Site	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase						biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTTCTAGCACCTATAGAATGA	0.308000													105	156					0	0	0.014410	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967741	64967741	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:64967741G>T	ENST00000399262.2	-	10	3906	c.3688C>A	c.(3688-3690)Cca>Aca	p.P1230T	JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1011T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1048T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P1011T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1230					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTAAAGTTGGAGGGGAAAGA	0.468000													27	102					4.87955e-14	5.12695e-14	0.005443	1	0
XYLB	9942	broad.mit.edu	37	3	38415956	38415956	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:38415956C>T	ENST00000207870.3	+	11	941	c.851C>T	c.(850-852)tCg>tTg	p.S284L	XYLB_ENST00000542835.1_Missense_Mutation_p.S147L	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	284					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCTCAGCGTCGCTGGCAGGC	0.587000													23	16					0	0	0.003271	0	0
SHD	56961	broad.mit.edu	37	19	4288274	4288274	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288274G>A	ENST00000543264.2	+	5	2214	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	251	SH2.							p.E251Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGATGCAGAGAGCCTCCT	0.572000													16	42					0	0	0.004007	0	0
DKK1	22943	broad.mit.edu	37	10	54076536	54076536	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:54076536C>T	ENST00000373970.3	+	4	909	c.770C>T	c.(769-771)tCt>tTt	p.S257F		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	257	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCCAGTAATTCTTCTAGGCTT	0.403000													59	39					0	0	0.014410	0	0
NLRP2	55655	broad.mit.edu	37	19	55508802	55508802	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55508802G>A	ENST00000543010.1	+	12	3140	c.2997G>A	c.(2995-2997)gtG>gtA	p.V999V	NLRP2_ENST00000448584.2_Silent_p.V999V|NLRP2_ENST00000263437.6_Silent_p.V996V|NLRP2_ENST00000538819.1_Silent_p.V975V|NLRP2_ENST00000391721.4_Silent_p.V975V|NLRP2_ENST00000339757.7_Silent_p.V977V|NLRP2_ENST00000537859.1_Silent_p.V977V|NLRP2_ENST00000427260.2_Silent_p.V976V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	999					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGTGGAGTGAAGATGCTGT	0.537000													187	158					0	0	0.014410	0	0
EPHX2	2053	broad.mit.edu	37	8	27361252	27361252	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27361252C>T	ENST00000521400.1	+	3	748	c.318C>T	c.(316-318)ctC>ctT	p.L106L	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521780.1_Silent_p.L40L|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000518379.1_Silent_p.L106L|EPHX2_ENST00000380476.3_Silent_p.L53L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	106	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GCCCCATGCTCCAGGCAGCTC	0.507000													7	13					0	0	0.003080	0	0
APOL5	80831	broad.mit.edu	37	22	36122285	36122285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122285G>A	ENST00000249044.2	+	3	170	c.170G>A	c.(169-171)tGg>tAg	p.W57*		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	57					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGCCAGAGTTGGAAAATTAAC	0.453000													14	54					0	0	0.002450	0	0
PTK2	5747	broad.mit.edu	37	8	141774448	141774448	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:141774448C>T	ENST00000519465.1	-	1	174	c.3G>A	c.(1-3)atG>atA	p.M1I	PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000520151.1_Start_Codon_SNP_p.M1I|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000340930.3_Intron			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	0					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCTGGTATTTCATATAATTAA	0.328000													14	70					0	0	0.001855	0	0
TMEM19	55266	broad.mit.edu	37	12	72080342	72080342	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:72080342G>A	ENST00000266673.5	+	0	476				RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_De_novo_Start_OutOfFrame	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTGTTTGGTCGGTGGAATATG	0.453000													4	25					0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121460047	121460047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:121460047G>A	ENST00000260197.7	+	29	4155	c.4026G>A	c.(4024-4026)tgG>tgA	p.W1342*	SORL1_ENST00000525532.1_Nonsense_Mutation_p.W286*|SORL1_ENST00000532694.1_Nonsense_Mutation_p.W188*|SORL1_ENST00000534286.1_Nonsense_Mutation_p.W252*	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1342	LDL-receptor class A 7.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTTGATTTGGAAGTGCGACG	0.478000													53	113					0	0	0.014410	0	0
PCNXL3	399909	broad.mit.edu	37	11	65401671	65401671	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65401671G>A	ENST00000355703.3	+	28	5084	c.4545G>A	c.(4543-4545)ctG>ctA	p.L1515L	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1515						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGGCAGCCCTGAGGCCTGTGC	0.642000													5	20					0	0	0.001168	0	0
AQP11	282679	broad.mit.edu	37	11	77301511	77301511	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301511C>T	ENST00000313578.3	+	1	832	c.474C>T	c.(472-474)ccC>ccT	p.P158P	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	158						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GCAAGAATCCCATCCGAGTCG	0.567000													28	49					0	0	0.004656	0	0
C8orf86	389649	broad.mit.edu	37	8	38369913	38369913	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:38369913C>T	ENST00000358138.1	-	3	688	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	C8orf86_ENST00000437935.2_3'UTR	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	222										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						tcttaaacttcagcacacacc	0.537000													10	48					0	0	0.006214	0	0
C1orf106	55765	broad.mit.edu	37	1	200880945	200880945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200880945G>A	ENST00000367342.4	+	9	1779	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E442K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	527										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGTGGTGGCTGAGAGCCCCCT	0.731000													4	12					0	0	0.001984	0	0
RICTOR	253260	broad.mit.edu	37	5	38945050	38945050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38945050G>A	ENST00000357387.3	-	35	4784	c.4754C>T	c.(4753-4755)tCa>tTa	p.S1585L	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1609L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1585					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCTGCTAGCTGAGCCTTCTTG	0.403000													40	124					0	0	0.008740	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669855	119669855	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:119669855C>T	ENST00000368468.3	-	2	817	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E126K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	126					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCGTGGTTTTCGCGGATCCTG	0.692000													24	41					0	0	0.003330	0	0
TSKS	60385	broad.mit.edu	37	19	50245148	50245148	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50245148C>G	ENST00000246801.3	-	9	1573	c.1491G>C	c.(1489-1491)aaG>aaC	p.K497N	TSKS_ENST00000358830.3_Missense_Mutation_p.K297N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	497							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTACCAGAATCTTCTTGTGTA	0.582000													43	70					0	0	0.013114	0	0
ZNF534	147658	broad.mit.edu	37	19	52937222	52937222	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52937222C>A	ENST00000332323.6	+	2	91	c.30C>A	c.(28-30)ttC>ttA	p.F10L	ZNF534_ENST00000433050.1_Missense_Mutation_p.F10L|ZNF534_ENST00000432303.2_Missense_Mutation_p.F10L|ZNF534_ENST00000301085.4_Missense_Mutation_p.F10L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATTGTCATTCAGCGATGTGG	0.443000													13	159					4.7546e-09	4.93608e-09	0.004007	1	0
LIPE	3991	broad.mit.edu	37	19	42930623	42930623	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42930623C>G	ENST00000244289.4	-	1	955	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	227					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGACCCACTCAGAAAGTGCC	0.493000													46	131					0	0	0.014410	0	0
ADCK5	203054	broad.mit.edu	37	8	145616165	145616165	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145616165G>A	ENST00000308860.6	+	5	496	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	151						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGGGCCAGGGGCTGTGCTCC	0.662000													11	39					0	0	0.013537	0	0
MBD5	55777	broad.mit.edu	37	2	149226996	149226996	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:149226996C>G	ENST00000407073.1	+	9	2481	c.1484C>G	c.(1483-1485)tCa>tGa	p.S495*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.S495*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	495						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCACCAAGGTCAACAATAGGG	0.478000													18	36					0	0	0.004990	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	72					0	0	0.004672	0	0
KMT2D	8085	broad.mit.edu	37	12	49445264	49445264	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49445264G>C	ENST00000301067.7	-	10	2201	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACCGGGGGCAGAGTTGCGGCT	0.692000													4	23					0	0	0.008291	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7531822	7531822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7531822G>A	ENST00000359920.6	+	14	2612	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.E629K|CTD-2207O23.3_ENST00000593531.1_Silent_p.R744R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	787					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCAGGCACGGAATCCGATCC	0.632000													10	57					0	0	0.008291	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464063	38464063	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:38464063A>C	ENST00000322350.5	+	22	3351	c.3005A>C	c.(3004-3006)aAc>aCc	p.N1002T	EGFLAM_ENST00000354891.3_Missense_Mutation_p.N1010T|EGFLAM_ENST00000506135.1_Missense_Mutation_p.N145T|EGFLAM_ENST00000514476.1_Missense_Mutation_p.N145T|EGFLAM_ENST00000397210.3_Missense_Mutation_p.N145T|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.N768T|EGFLAM_ENST00000397202.2_Missense_Mutation_p.N368T	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1010	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATGGGAAAAACATCAACACT	0.532000													10	24					0	0	0.006214	0	0
OR2T3	343173	broad.mit.edu	37	1	248637237	248637237	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248637237G>A	ENST00000359594.2	+	1	611	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCTGCTCTGACGTCTCCCT	0.522000													76	93					0	0	0.014410	0	0
NLRX1	79671	broad.mit.edu	37	11	119044292	119044292	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044292G>A	ENST00000409109.1	+	5	921	c.334G>A	c.(334-336)Gac>Aac	p.D112N	NLRX1_ENST00000292199.2_Missense_Mutation_p.D112N|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.D112N|NLRX1_ENST00000409991.1_Missense_Mutation_p.D112N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D112N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	112	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGTCCACGTTGACCCTGTGAT	0.672000													22	30					0	0	0.012319	0	0
CD6	923	broad.mit.edu	37	11	60781007	60781007	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60781007C>T	ENST00000313421.7	+	7	1449	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	CD6_ENST00000452451.2_Silent_p.F421F|CD6_ENST00000352009.5_Silent_p.F421F|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000344028.5_Silent_p.F421F|CD6_ENST00000346437.4_Silent_p.F421F	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	421					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCATAGCCTTCATCCTCTTGA	0.507000													60	176					0	0	0.014410	0	0
ALG2	85365	broad.mit.edu	37	9	101980576	101980576	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101980576C>T	ENST00000476832.1	-	2	952	c.891G>A	c.(889-891)gtG>gtA	p.V297V	ALG2_ENST00000319033.6_Silent_p.V204V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	297					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TCAAGAAGGTCACATACTGGC	0.478000													22	90					0	0	0.012319	0	0
PRIM2	5558	broad.mit.edu	37	6	57183276	57183276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57183276G>A	ENST00000607273.1	+	2	120	c.33G>A	c.(31-33)ctG>ctA	p.L11L	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	11					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAGGAAGCTGAGGTTGGCAG	0.403000													9	16					0	0	0.006214	0	0
C17orf47	284083	broad.mit.edu	37	17	56620915	56620915	+	Silent	SNP	C	C	T	rs139661038		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56620915C>T	ENST00000321691.3	-	1	814	c.633G>A	c.(631-633)acG>acA	p.T211T	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	211								p.T211T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGTAGTCGTAATTCTTT	0.512000													48	140					0	0	0.014410	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609522	115609522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115609522C>T	ENST00000361384.2	-	2	2259	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E448K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	448	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GATGATTCTTCAATTACCTGT	0.388000								Other identified genes with known or suspected DNA repair function					47	61					0	0	0.013114	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814113	3814113	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:3814113C>T	ENST00000315677.3	-	5	1713	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K	DLGAP1_ENST00000400150.3_Missense_Mutation_p.R79K|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R71K|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R373K|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R81K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R71K|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R71K|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R79K|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R373K|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R85K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R373K|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R79K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	373					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATAGCTTTCTCTCCGCGCAGC	0.507000													51	33					0	0	0.014410	0	0
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433000													17	94					0	0	0.004990	0	0
CAD	790	broad.mit.edu	37	2	27463781	27463781	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27463781G>A	ENST00000264705.4	+	36	5758	c.5596G>A	c.(5596-5598)Gag>Aag	p.E1866K	CAD_ENST00000403525.1_Missense_Mutation_p.E1803K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1866	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTTTGCAGCTGAGGAGCCAAA	0.502000													27	22					0	0	0.003954	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33114076	33114076	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33114076G>A	ENST00000300469.9	+	2	22	c.7G>A	c.(7-9)Gag>Aag	p.E3K	DYNLRB1_ENST00000357156.2_Missense_Mutation_p.E3K|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.E55K|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.E3K			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	3					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CTGGCAGGCAGAGGTGGAGGA	0.547000													5	33					0	0	0.001168	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791156	91791156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791156C>G	ENST00000389857.6	-	12	1395	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	437					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GACAGCTGCTCCAGCTCCCAG	0.587000													11	36					0	0	0.013537	0	0
IL4I1	259307	broad.mit.edu	37	19	50393764	50393764	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50393764C>T	ENST00000595948.1	-	10	1553	c.933G>A	c.(931-933)gcG>gcA	p.A311A	IL4I1_ENST00000391826.2_Silent_p.A289A|IL4I1_ENST00000341114.3_Silent_p.A311A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	289						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCTGGGTCATCGCCACCACGG	0.682000											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0.004672	0	0
MACF1	23499	broad.mit.edu	37	1	39950348	39950348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39950348G>A	ENST00000564288.1	+	100	23134	c.22357G>A	c.(22357-22359)Gat>Aat	p.D7453N	MACF1_ENST00000361689.2_Missense_Mutation_p.D5328N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5328N|MACF1_ENST00000567887.1_Missense_Mutation_p.D7490N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5328N|MACF1_ENST00000372915.3_Missense_Mutation_p.D7286N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5836N|MACF1_ENST00000539005.1_Missense_Mutation_p.D5198N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7286					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)			CCTTGCTGGTGATACCAGCAA	0.458000													39	145					0	0	0.007835	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184336	26184336	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26184336G>C	ENST00000356530.3	+	1	379	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	105					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GCTGCTTCCCGGGGAGCTGGC	0.617000													18	52					0	0	0.006122	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509694	26509694	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:26509694G>A	ENST00000361530.6	+	7	776	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CNKSR1_ENST00000374253.5_Missense_Mutation_p.E211K|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	211	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGCCTAGAAATTCACAC	0.627000													105	117					0	0	0.014410	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416765	57416765	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:57416765C>T	ENST00000565912.1	+	2	3607	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CX3CL1_ENST00000563383.1_Missense_Mutation_p.R345W|CX3CL1_ENST00000006053.6_Missense_Mutation_p.R339W			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	339	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCTGCCACCCGGAGGCAGGC	0.657000													9	26					0	0	0.001855	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102839067	102839067	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:102839067C>G	ENST00000312132.4	-	0	3393																											GAGCTGTTTTCTAGAATAAAA	0.279000													7	21					0	0	0.004482	0	0
COL19A1	1310	broad.mit.edu	37	6	70875842	70875842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70875842G>A	ENST00000322773.4	+	37	2512	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G426R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	804	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G804R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGGCAGCGACGGACCCCCTGG	0.443000													28	171					0	0	0.007291	0	0
MAP3K5	4217	broad.mit.edu	37	6	137017141	137017141	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:137017141C>G	ENST00000359015.4	-	6	1390	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	344					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGCCAAATCAAAGGTTGGC	0.358000													37	65					0	0	0.007835	0	0
YWHAZ	7534	broad.mit.edu	37	8	101932959	101932959	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101932959C>G	ENST00000395957.2	-	7	1041	c.700G>C	c.(700-702)Gga>Cga	p.G234R	YWHAZ_ENST00000395956.3_Missense_Mutation_p.G234R|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G234R|YWHAZ_ENST00000457309.1_Missense_Mutation_p.G234R|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G157R|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G114R|YWHAZ_ENST00000395953.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G114R|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G159R|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G234R|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G234R			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	234					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GCTTCGTCTCCTTGGGTATCC	0.458000													21	98					0	0	0.006320	0	0
EXOC4	60412	broad.mit.edu	37	7	132990735	132990735	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:132990735C>T	ENST00000253861.4	+	4	605	c.576C>T	c.(574-576)ctC>ctT	p.L192L	EXOC4_ENST00000393161.2_Silent_p.L192L|EXOC4_ENST00000539845.1_Silent_p.L91L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	192					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACTTGGTTCTCATAGATGAAC	0.488000													15	56					0	0	0.003163	0	0
NLRX1	79671	broad.mit.edu	37	11	119044232	119044232	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119044232C>G	ENST00000409109.1	+	5	861	c.274C>G	c.(274-276)Cgg>Ggg	p.R92G	NLRX1_ENST00000292199.2_Missense_Mutation_p.R92G|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.R92G|NLRX1_ENST00000409991.1_Missense_Mutation_p.R92G|NLRX1_ENST00000409265.4_Missense_Mutation_p.R92G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	92	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGTTCAGCCGGCTGCCCAG	0.587000													16	38					0	0	0.004007	0	0
ZZEF1	23140	broad.mit.edu	37	17	4045890	4045890	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:4045890G>A	ENST00000381638.2	-	1	424	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	100							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAGCTCCCGGAACTGCTCCA	0.716000													8	4					0	0	0.013537	0	0
HDAC9	9734	broad.mit.edu	37	7	18705862	18705862	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:18705862G>A	ENST00000406451.4	+	12	1635	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	HDAC9_ENST00000417496.2_Silent_p.L493L|HDAC9_ENST00000524023.1_Silent_p.L418L|HDAC9_ENST00000405010.3_Silent_p.L495L|HDAC9_ENST00000428307.2_Silent_p.L451L|HDAC9_ENST00000432645.2_Silent_p.L495L|HDAC9_ENST00000441542.2_Silent_p.L498L|HDAC9_ENST00000456174.2_Silent_p.L467L|HDAC9_ENST00000401921.1_Silent_p.L454L|HDAC9_ENST00000406072.1_Silent_p.L482L	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTGAACAACTGAAGCAACCAG	0.473000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	133					0	0	0.004289	0	0
BCL9L	283149	broad.mit.edu	37	11	118773239	118773239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:118773239C>T	ENST00000334801.3	-	6	2177	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	405	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCCGATGCTCCAGCTGCTCT	0.687000													6	19					0	0	0.003080	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785205	149785205	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:149785205G>A	ENST00000331491.1	-	1	31	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	11					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCCGCCGGTCGACTTGCGGGC	0.622000													13	28					0	0	0.012319	0	0
CPD	1362	broad.mit.edu	37	17	28770948	28770948	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28770948C>T	ENST00000225719.4	+	11	2578	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	CPD_ENST00000543464.2_Silent_p.L587L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	834	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACTGGCGTCTCTTGGTTCCAG	0.448000													45	182					0	0	0.013114	0	0
C12orf55	144535	broad.mit.edu	37	12	97051853	97051853	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:97051853C>T	ENST00000524981.4	+	37	5317	c.5294C>T	c.(5293-5295)tCt>tTt	p.S1765F						chromosome 12 open reading frame 55																		ACACTAGTATCTCTTGCCATT	0.313000													31	115					0	0	0.012213	0	0
TAB2	23118	broad.mit.edu	37	6	149700055	149700055	+	Missense_Mutation	SNP	G	G	C	rs1053435		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:149700055G>C	ENST00000367456.1	+	4	1581	c.1004G>C	c.(1003-1005)aGa>aCa	p.R335T	TAB2_ENST00000286332.5_Missense_Mutation_p.R335T|TAB2_ENST00000538427.1_Missense_Mutation_p.R335T|TAB2_ENST00000536230.1_Missense_Mutation_p.R303T|TAB2_ENST00000392282.1_Missense_Mutation_p.R335T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	335					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCCCCACAAAGAAATAATTCT	0.418000													31	48					0	0	0.012213	0	0
METAP1D	254042	broad.mit.edu	37	2	172928454	172928454	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:172928454G>C	ENST00000315796.4	+	3	601	c.214G>C	c.(214-216)Gac>Cac	p.D72H	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	72					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AAAGAAGCCAGACTATGTGAC	0.468000													3	24					0	0	0.009096	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202318026	202318026	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:202318026G>A	ENST00000608999.1	+	1	200	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.R16Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R16Q|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R16Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGTCGGCGCGAATGCGGCGG	0.682000													3	6					0	0	0.004672	0	0
TRAF4	9618	broad.mit.edu	37	17	27075418	27075418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075418G>A	ENST00000262395.5	+	5	730	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRAF4_ENST00000444415.3_Missense_Mutation_p.E201K|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	201					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTGCACTAAGGAGTTCGTCTT	0.572000													16	19					0	0	0.004990	0	0
MEFV	4210	broad.mit.edu	37	16	3293307	3293307	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3293307C>G	ENST00000219596.1	-	10	2219	c.2180G>C	c.(2179-2181)gGa>gCa	p.G727A	MEFV_ENST00000339854.4_Missense_Mutation_p.G547A|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.G516A	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	727	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGAGATGCTTCCAACTCTGTA	0.532000													20	55					0	0	0.007413	0	0
KIAA0100	9703	broad.mit.edu	37	17	26967681	26967681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967681C>T	ENST00000528896.2	-	8	861	c.787G>A	c.(787-789)Gag>Aag	p.E263K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E120K|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E120K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	263						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGTTGGCTCAACTAAGTTT	0.448000													25	43					0	0	0.002780	0	0
SUPT5H	6829	broad.mit.edu	37	19	39965239	39965239	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39965239G>T	ENST00000599117.1	+	29	3272	c.2905G>T	c.(2905-2907)Ggc>Tgc	p.G969C	SUPT5H_ENST00000402194.2_Missense_Mutation_p.G965C|SUPT5H_ENST00000598725.1_Missense_Mutation_p.G969C|SUPT5H_ENST00000359191.6_Missense_Mutation_p.G965C|SUPT5H_ENST00000432763.2_Missense_Mutation_p.G969C			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	969					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACACGCCAGGCTCAGGCAT	0.617000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	31					3.51602e-12	3.68361e-12	0.008871	1	0
MFSD7	84179	broad.mit.edu	37	4	678583	678583	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:678583C>A	ENST00000322224.4	-	5	961	c.648G>T	c.(646-648)gaG>gaT	p.E216D	MFSD7_ENST00000404286.2_Missense_Mutation_p.E216D|MFSD7_ENST00000347950.5_Missense_Mutation_p.E97D|MFSD7_ENST00000515118.1_Missense_Mutation_p.E119D|MFSD7_ENST00000503156.1_Missense_Mutation_p.E152D			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	216					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGCACACTCTCCCACAGGC	0.657000													17	9					4.96729e-08	5.13239e-08	0.008871	1	0
PLEC	5339	broad.mit.edu	37	8	145013596	145013596	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145013596C>T	ENST00000345136.3	-	1	162	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PLEC_ENST00000527096.1_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000357649.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000354958.2_Intron	NM_201384.1	NP_958786.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E12*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCAGGCCCTCGGGCTGCGGC	0.687000													3	18					0	0	0.004672	0	0
APOB	338	broad.mit.edu	37	2	21233218	21233218	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233218C>T	ENST00000233242.1	-	26	6649	c.6522G>A	c.(6520-6522)ctG>ctA	p.L2174L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2174	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATATGTCTGCAGTTGAGATA	0.254000													45	31					0	0	0.014410	0	0
RMND1	55005	broad.mit.edu	37	6	151754317	151754317	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:151754317C>A	ENST00000367303.4	-	4	784	c.662G>T	c.(661-663)gGt>gTt	p.G221V	RMND1_ENST00000336451.3_Missense_Mutation_p.G10V	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	221										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TCCAGGATCACCTTCTTTTGC	0.383000													13	58					0.00136819	0.00139056	0.013537	1	0
CACNA1A	773	broad.mit.edu	37	19	13325339	13325339	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13325339C>G	ENST00000360228.5	-	39	5814	c.5815G>C	c.(5815-5817)Gac>Cac	p.D1939H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1940H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1940					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACCAGCAGGTCTAGCGTCTTC	0.597000													8	12					0	0	0.004482	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802299	24802299	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:24802299C>T	ENST00000395799.3	+	6	2465	c.2336C>T	c.(2335-2337)tCt>tTt	p.S779F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S779F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	779	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GATACCTCATCTGTATCAGGG	0.517000													9	121					0	0	0.004482	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	35					0.00116845	0.00118866	0.001168	1	0
PLCL1	5334	broad.mit.edu	37	2	198950660	198950660	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:198950660G>A	ENST00000428675.1	+	2	2817	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E709K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	807	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATTGGGGATGAGTTTATAGG	0.423000													38	75					0	0	0.003755	0	0
KCNIP1	30820	broad.mit.edu	37	5	170159845	170159845	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:170159845G>A	ENST00000328939.4	+	6	1014	c.477G>A	c.(475-477)ggG>ggA	p.G159G	KCNIP1_ENST00000520740.1_Silent_p.G131G|KCNIP1_ENST00000390656.4_Silent_p.G159G|KCNIP1_ENST00000411494.1_Silent_p.G170G|KCNIP1_ENST00000377360.4_Silent_p.G168G|KCNIP1_ENST00000434108.1_Silent_p.G184G	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	170	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATGATGGGGAAATACACAT	0.493000													19	44					0	0	0.010504	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072537	17072537	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:17072537C>T	ENST00000359963.3	-	1	1163	c.904G>A	c.(904-906)Gag>Aag	p.E302K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	302					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGAGGGTCTCCTCGTCGACC	0.493000													36	88					0	0	0.007835	0	0
CACNA1A	773	broad.mit.edu	37	19	13470507	13470507	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13470507C>T	ENST00000360228.5	-	6	890	c.891G>A	c.(889-891)ggG>ggA	p.G297G	CACNA1A_ENST00000573710.2_Silent_p.G297G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	297					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTGAGTGATCCCGTTGTTGG	0.547000													3	8					0	0	0.004672	0	0
C11orf1	64776	broad.mit.edu	37	11	111753253	111753253	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:111753253G>T	ENST00000260276.3	+	2	544	c.207G>T	c.(205-207)ctG>ctT	p.L69L	C11orf1_ENST00000530214.1_Silent_p.L69L|C11orf1_ENST00000529270.1_Silent_p.L109L|C11orf1_ENST00000528125.1_Silent_p.L23L	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	69						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACCGTACCCTGATGGGCAACT	0.438000													13	16					4.3838e-07	4.51451e-07	0.001855	1	0
CNOT4	4850	broad.mit.edu	37	7	135123034	135123034	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135123034G>C	ENST00000428680.2	-	2	325	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	CNOT4_ENST00000451834.1_Missense_Mutation_p.L16V|CNOT4_ENST00000423368.2_Missense_Mutation_p.L16V|CNOT4_ENST00000361528.4_Missense_Mutation_p.L16V|CNOT4_ENST00000315544.5_Missense_Mutation_p.L16V|CNOT4_ENST00000414802.1_Missense_Mutation_p.L16V|CNOT4_ENST00000356162.4_Missense_Mutation_p.L16V|CNOT4_ENST00000541284.1_Missense_Mutation_p.L16V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	16					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCCATGCAAAGAGGGCACTCC	0.443000													24	22					0	0	0.002780	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	88					0	0	0.009096	0	0
MCC	4163	broad.mit.edu	37	5	112458513	112458513	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:112458513C>T	ENST00000302475.4	-	4	888	c.325G>A	c.(325-327)Gag>Aag	p.E109K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E299K|MCC_ENST00000515367.2_Missense_Mutation_p.E46K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	109					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCTGAGTACTCATCTTCCTCC	0.463000													14	28					0	0	0.002450	0	0
SPATA6L	55064	broad.mit.edu	37	9	4661989	4661989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:4661989G>A	ENST00000454239.2	-	3	332	c.87C>T	c.(85-87)ctC>ctT	p.L29L	SPATA6L_ENST00000475086.1_Silent_p.L29L|SPATA6L_ENST00000381890.5_Silent_p.L29L|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381895.5_5'UTR			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	29																	GGTAGACCCCGAGGTACACAT	0.438000											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	50					0	0	0.001984	0	0
LRRC73	221424	broad.mit.edu	37	6	43475602	43475602	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43475602C>T	ENST00000372441.1	-	4	1519	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	207																	CCCTCCAAGTCTAGGACCTCT	0.562000													7	36					0	0	0.001984	0	0
USP9Y	8287	broad.mit.edu	37	Y	14885804	14885804	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885804G>C	ENST00000338981.3	+	17	3221	c.2276G>C	c.(2275-2277)aGa>aCa	p.R759T	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	759					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATAGCAAAAAGAAGATCCTAT	0.353000													21	8					0	0	0.012319	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40629672	40629672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40629672C>T	ENST00000264649.6	+	6	570	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000343619.4_Intron|ATP6V0A1_ENST00000393829.2_Intron	NM_001130020.1|NM_005177.3	NP_001123492.1|NP_005168.2	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	141					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ATTGCATCATCAGCAGATGGC	0.448000													18	61					0	0	0.007413	0	0
GLRX2	51022	broad.mit.edu	37	1	193074729	193074729	+	Missense_Mutation	SNP	G	G	C	rs1075661		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:193074729G>C	ENST00000367440.3	-	1	515	c.40C>G	c.(40-42)Cta>Gta	p.L14V	GLRX2_ENST00000472197.1_Intron	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	0					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	p.L14L(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	ACATCCTTTAGAGGGGAGAAG	0.617000													5	23					0	0	0.001984	0	0
MARCH9	92979	broad.mit.edu	37	12	58152013	58152013	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58152013G>T	ENST00000266643.5	+	3	1067	c.636G>T	c.(634-636)aaG>aaT	p.K212N	MARCH9_ENST00000548358.1_Missense_Mutation_p.K99N	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	212						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTTCAGCCAAGTGGCAACGAC	0.542000													23	62					1.96895e-08	2.03826e-08	0.002780	1	0
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647000													15	34					0	0	0.003163	0	0
DCHS1	8642	broad.mit.edu	37	11	6648801	6648801	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6648801C>G	ENST00000299441.3	-	14	5880	c.5469G>C	c.(5467-5469)ctG>ctC	p.L1823L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1823	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTATCCTCAGCTGGAAAG	0.577000													9	16					0	0	0.006214	0	0
IMPG1	3617	broad.mit.edu	37	6	76657219	76657219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:76657219C>T	ENST00000369950.3	-	14	2045	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	619	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCTTAAATCCTGTAAGATT	0.393000													10	22					0	0	0.008291	0	0
ARID5A	10865	broad.mit.edu	37	2	97215120	97215120	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:97215120C>T	ENST00000357485.3	+	3	261	c.183C>T	c.(181-183)ttC>ttT	p.F61F	ARID5A_ENST00000454558.2_5'UTR	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	61	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						agcaggCCTTCCTGGTCAGCC	0.662000													28	46					0	0	0.008361	0	0
HCFC1	3054	broad.mit.edu	37	X	153223253	153223253	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153223253G>C	ENST00000310441.7	-	12	3079	c.2113C>G	c.(2113-2115)Cct>Gct	p.P705A	HCFC1_ENST00000369984.4_Missense_Mutation_p.P705A|HCFC1_ENST00000354233.3_Missense_Mutation_p.P636A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	705	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCACAGGACCCGTGGAC	0.547000													19	13					0	0	0.012319	0	0
BRE	9577	broad.mit.edu	37	2	28152708	28152708	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28152708A>G	ENST00000344773.2	+	3	276	c.138A>G	c.(136-138)tcA>tcG	p.S46S	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Silent_p.S46S|BRE_ENST00000379624.1_Silent_p.S46S|BRE_ENST00000379632.2_Silent_p.S46S|BRE_ENST00000342045.2_Silent_p.S46S	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	46	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCTGCACATCATTGACTCCTG	0.323000													25	109					0	0	0.004656	0	0
DENND2A	27147	broad.mit.edu	37	7	140301337	140301337	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140301337G>A	ENST00000275884.6	-	2	1278	c.861C>T	c.(859-861)atC>atT	p.I287I	DENND2A_ENST00000496613.1_Silent_p.I287I|DENND2A_ENST00000537639.1_Silent_p.I287I|DENND2A_ENST00000492720.1_Silent_p.I287I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	287								p.I287I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCTGAAGCCGATGCCAGGCT	0.572000													47	105					0	0	0.014410	0	0
ADRBK1	156	broad.mit.edu	37	11	67051768	67051768	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:67051768C>T	ENST00000308595.5	+	18	1868	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	526					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGACTGTCTTCGACACCATCA	0.602000													13	81					0	0	0.002450	0	0
RC3H1	149041	broad.mit.edu	37	1	173916678	173916678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:173916678G>A	ENST00000367696.2	-	15	2917	c.2566C>T	c.(2566-2568)Cag>Tag	p.Q856*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.Q856*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.Q856*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	856					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTCTTCTCTGAAGATCTAAT	0.438000													42	34					0	0	0.010771	0	0
LAMP3	27074	broad.mit.edu	37	3	182872117	182872117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:182872117G>A	ENST00000265598.3	-	2	367	c.112C>T	c.(112-114)Caa>Taa	p.Q38*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q14*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	38					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GCAGTAGGTTGAGAATAATCT	0.398000													57	70					0	0	0.014410	0	0
TOMM34	10953	broad.mit.edu	37	20	43571786	43571786	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43571786C>T	ENST00000372813.3	-	7	1046	c.894G>A	c.(892-894)caG>caA	p.Q298Q	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	298					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GCCGCAACTTCTGTGCAGGAC	0.507000													12	70					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7572986G>A	ENST00000269305.4	-	11	1312	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q375*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	375	Basic (repression of DNA-binding).|Interaction with CARM1.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(1)|p.Q375*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGTAGACTGACCCTTTTTG	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			68	24					0	0	0.014410	0	0
PTPN12	5782	broad.mit.edu	37	7	77247848	77247848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77247848G>A	ENST00000248594.6	+	12	1263	c.991G>A	c.(991-993)Gat>Aat	p.D331N	PTPN12_ENST00000435495.2_Missense_Mutation_p.D201N|PTPN12_ENST00000415482.2_Missense_Mutation_p.D212N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	331						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TGAAAAACAAGATTCTCCTCC	0.348000													34	99					0	0	0.003271	0	0
CRELD1	78987	broad.mit.edu	37	3	9986069	9986069	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9986069G>A	ENST00000383811.3	+	10	1668	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	CRELD1_ENST00000452070.1_Missense_Mutation_p.E357K|CRELD1_ENST00000326434.5_Silent_p.Q421Q|CRELD1_ENST00000397170.3_Missense_Mutation_p.E357K|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	357					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTTCTTCTCAGAGATGACAGA	0.547000													38	288					0	0	0.006999	0	0
BMF	90427	broad.mit.edu	37	15	40396422	40396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40396422G>A	ENST00000354670.4	-	4	646	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	BMF_ENST00000559701.1_Intron|BMF_ENST00000561282.1_Nonsense_Mutation_p.Q138*|BMF_ENST00000558774.1_Intron|BMF_ENST00000561360.1_Nonsense_Mutation_p.Q138*|BMF_ENST00000220446.4_Intron|BMF_ENST00000431415.3_Intron|BMF_ENST00000397573.1_Nonsense_Mutation_p.Q138*	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	138					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GCAATGCACTGAAGCTTTCGG	0.612000													84	90					0	0	0.014410	0	0
MYO10	4651	broad.mit.edu	37	5	16680071	16680071	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:16680071C>T	ENST00000513610.1	-	33	4981	c.4527G>A	c.(4525-4527)ctG>ctA	p.L1509L	MYO10_ENST00000515803.1_Silent_p.L848L|MYO10_ENST00000274203.9_Silent_p.L866L|MYO10_ENST00000505695.1_Silent_p.L848L|MYO10_ENST00000427430.2_Silent_p.L866L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1509					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TATCTTGAATCAGCTGCTGGG	0.537000													5	21					0	0	0.001168	0	0
ENC1	8507	broad.mit.edu	37	5	73932241	73932241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:73932241G>A	ENST00000302351.4	-	2	1200	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	ENC1_ENST00000510316.1_Intron|ENC1_ENST00000537006.1_Missense_Mutation_p.H24Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	24					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAGGACTTGTGAAACAGATAG	0.473000													13	30					0	0	0.002450	0	0
MTURN	222166	broad.mit.edu	37	7	30174846	30174846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:30174846G>A	ENST00000324453.8	+	1	421	c.94G>A	c.(94-96)Gat>Aat	p.D32N	C7orf41_ENST00000415604.1_Missense_Mutation_p.D32N|C7orf41_ENST00000409688.1_Missense_Mutation_p.D32N	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN		32										NS(1)|large_intestine(2)	3						ACGCAGGATGGATTTCTACGC	0.632000													3	13					0	0	0.004672	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669682	234669682	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:234669682C>G	ENST00000360418.3	+	1	749	c.749C>G	c.(748-750)tCt>tGt	p.S250C	UGT1A1_ENST00000608383.1_Missense_Mutation_p.S250C|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S250C|UGT1A10_ENST00000373445.1_Intron			P22309	UD11_HUMAN		250					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTATTGAGCTCTGCATCTGTC	0.468000													29	66					0	0	0.009535	0	0
BLMH	642	broad.mit.edu	37	17	28598396	28598396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:28598396C>T	ENST00000261714.6	-	10	1213	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	BLMH_ENST00000394819.3_Missense_Mutation_p.E260K	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	347					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						AACACTAACTCATGGTCATAG	0.413000													27	54					0	0	0.005443	0	0
LPHN2	23266	broad.mit.edu	37	1	82417698	82417698	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:82417698G>C	ENST00000370728.1	+	11	2299	c.1654G>C	c.(1654-1656)Ggg>Cgg	p.G552R	LPHN2_ENST00000370730.1_Missense_Mutation_p.G552R|LPHN2_ENST00000394879.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370717.2_Missense_Mutation_p.G552R|LPHN2_ENST00000370715.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370713.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370727.1_Missense_Mutation_p.G552R|LPHN2_ENST00000370723.1_Missense_Mutation_p.G552R|LPHN2_ENST00000319517.6_Missense_Mutation_p.G552R|LPHN2_ENST00000271029.4_Missense_Mutation_p.G552R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.G490R|LPHN2_ENST00000370725.1_Missense_Mutation_p.G552R|LPHN2_ENST00000359929.3_Missense_Mutation_p.G552R|LPHN2_ENST00000335786.5_Missense_Mutation_p.G552R			O95490	LPHN2_HUMAN	latrophilin 2	552					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACATACCAAAGGGCCAGTGTT	0.398000													30	40					0	0	0.006320	0	0
OR5M3	219482	broad.mit.edu	37	11	56237767	56237767	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237767C>T	ENST00000312240.2	-	1	247	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAGAAAACCACACATCAACAA	0.388000													54	87					0	0	0.014410	0	0
NRIP1	8204	broad.mit.edu	37	21	16338443	16338443	+	Missense_Mutation	SNP	G	G	T	rs61755058	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:16338443G>T	ENST00000400202.1	-	3	2783	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	NRIP1_ENST00000318948.4_Missense_Mutation_p.P691T|NRIP1_ENST00000400199.1_Missense_Mutation_p.P691T			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	691	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGACCTGTTGGTTGACTACTA	0.398000													22	89					3.62473e-10	3.78112e-10	0.012319	1	0
CXorf36	79742	broad.mit.edu	37	X	45017019	45017019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:45017019G>A	ENST00000398000.2	-	3	687	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	205						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						AGCTTGTCACGGTCGGTGAAG	0.632000													3	8					0	0	0.009096	0	0
PCF11	51585	broad.mit.edu	37	11	82877677	82877677	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877677G>A	ENST00000298281.4	+	5	2190	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	580					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCAGGCACTGAACCAAAGGA	0.388000													18	88					0	0	0.006122	0	0
SLC2A2	6514	broad.mit.edu	37	3	170725017	170725017	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170725017C>T	ENST00000314251.3	-	5	611	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E59K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	178					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGAGCAATTTCACCGATATAC	0.428000													30	28					0	0	0.008361	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	85					0	0	0.004672	0	0
DACT3	147906	broad.mit.edu	37	19	47151862	47151862	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:47151862T>C	ENST00000391916.2	-	4	1840	c.1767A>G	c.(1765-1767)ggA>ggG	p.G589G	DACT3_ENST00000300875.4_Silent_p.G364G	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	589										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGCACCTGCTCCACCCCCAG	0.647000													11	76					0	0	0.007413	0	0
AFM	173	broad.mit.edu	37	4	74350018	74350018	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:74350018G>A	ENST00000226355.3	+	3	274	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	61	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCAACCTTTGAAGAAATGGA	0.403000													25	69					0	0	0.003330	0	0
NPC1	4864	broad.mit.edu	37	18	21148935	21148935	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:21148935C>T	ENST00000269228.5	-	4	869	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	105					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACAGGTTCAGTAGGTTAT	0.368000													20	50					0	0	0.007413	0	0
ACLY	47	broad.mit.edu	37	17	40069977	40069977	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40069977C>T	ENST00000352035.2	-	2	280	c.150G>A	c.(148-150)ctG>ctA	p.L50L	ACLY_ENST00000353196.1_Silent_p.L50L|ACLY_ENST00000393896.2_Silent_p.L50L|ACLY_ENST00000537919.1_Silent_p.L50L|ACLY_ENST00000590151.1_Silent_p.L50L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	50					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCTGGCTGAGCAGCCAGGGGT	0.582000													17	51					0	0	0.004990	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715101	40715101	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40715101C>T	ENST00000253055.3	+	6	1815	c.1527C>T	c.(1525-1527)atC>atT	p.I509I		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	509					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCCCAGCATCATCCCCCGGC	0.547000													35	52					0	0	0.005524	0	0
BMPR1B	658	broad.mit.edu	37	4	96051059	96051059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96051059G>A	ENST00000515059.1	+	9	915	c.632G>A	c.(631-633)gGa>gAa	p.G211E	BMPR1B_ENST00000394931.1_Missense_Mutation_p.G211E|BMPR1B_ENST00000264568.4_Missense_Mutation_p.G211E|BMPR1B_ENST00000440890.2_Missense_Mutation_p.G241E	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	211	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAACAGATTGGAAAAGGTCGC	0.458000													14	27					0	0	0.003163	0	0
PDGFB	5155	broad.mit.edu	37	22	39639936	39639936	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:39639936G>A	ENST00000331163.6	-	1	820	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	11					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGTAGCAGCAGAGAGACAGGA	0.711000			T	COL1A1	DFSP								3	8					0	0	0.004672	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725884	208725884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:208725884C>T	ENST00000427836.2	-	7	2542	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E685K	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	685					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTACAGATTTCACAGATGAAC	0.408000													88	41					0	0	0.014410	0	0
OTUD4	54726	broad.mit.edu	37	4	146067481	146067481	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:146067481C>T	ENST00000454497.2	-	14	1302	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.E454K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	453							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGGGATTCTTCTATAGCTTGC	0.408000													67	57					0	0	0.014410	0	0
BHLHE40	8553	broad.mit.edu	37	3	5022016	5022016	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:5022016G>A	ENST00000256495.3	+	3	784	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	61						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CCGGCTCATCGAGAAAAAGAG	0.567000											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	7					0	0	0.008740	0	0
LRP12	29967	broad.mit.edu	37	8	105503092	105503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:105503092C>T	ENST00000276654.5	-	7	2497	c.2389G>A	c.(2389-2391)Gat>Aat	p.D797N	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.D778N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	797					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGCAAGATCAAGAAGAGGT	0.443000													34	138					0	0	0.003271	0	0
PIGV	55650	broad.mit.edu	37	1	27121287	27121287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27121287C>T	ENST00000374145.1	+	3	1444	c.762C>T	c.(760-762)ctC>ctT	p.L254L	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Silent_p.L254L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	254					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CCTTTGCCCTCTTTCAGTATT	0.502000													46	130					0	0	0.014410	0	0
THEG	51298	broad.mit.edu	37	19	374361	374361	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:374361C>T	ENST00000342640.4	-	2	411	c.369G>A	c.(367-369)agG>agA	p.R123R	THEG_ENST00000346878.2_Silent_p.R123R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	123	Poly-Arg.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCGCCTCCTCCTCTTCC	0.592000													11	34					0	0	0.010729	0	0
C20orf144	128864	broad.mit.edu	37	20	32251342	32251342	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:32251342G>A	ENST00000375222.3	+	2	193	c.131G>A	c.(130-132)aGg>aAg	p.R44K	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	44										lung(1)	1						CCCCAGACCAGGATCGTGCTG	0.726000													3	17					0	0	0.009096	0	0
SMARCC1	6599	broad.mit.edu	37	3	47676775	47676775	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47676775C>T	ENST00000254480.5	-	24	2670	c.2551G>A	c.(2551-2553)Gat>Aat	p.D851N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	851	Glu-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCCCAGTATCACTTTCTCTT	0.433000													39	20					0	0	0.004289	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573037	44573037	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:44573037C>T	ENST00000289547.4	-	8	2457	c.2402G>A	c.(2401-2403)aGg>aAg	p.R801K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.R801K|NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R801K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	801					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TACCTCCTGCCTCTTGCTGTC	0.622000													29	40					0	0	0.007291	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278816	130278816	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130278816C>G	ENST00000257359.6	-	7	2476	c.1770G>C	c.(1768-1770)caG>caC	p.Q590H		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	590	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCTCACACTGCTGCTCCCTGA	0.547000													27	85					0	0	0.005443	0	0
JAG1	182	broad.mit.edu	37	20	10625512	10625512	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:10625512C>T	ENST00000254958.5	-	18	2858	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q	JAG1_ENST00000423891.2_Splice_Site_p.Q622Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	781					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GACACTCACTCTGAGCACAGA	0.592000									Alagille Syndrome				50	96					0	0	0.014410	0	0
MMP12	4321	broad.mit.edu	37	11	102736603	102736603	+	RNA	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:102736603G>T	ENST00000532855.1	-	0	1204							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AAAACCAAAAGAATGTATGCT	0.328000													13	24					4.36969e-10	4.55385e-10	0.001855	1	0
SYNE2	23224	broad.mit.edu	37	14	64685228	64685228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64685228C>T	ENST00000357395.3	+	109	19885	c.8741C>T	c.(8740-8742)tCa>tTa	p.S2914L	SYNE2_ENST00000554805.1_Missense_Mutation_p.S312L|SYNE2_ENST00000441438.2_Missense_Mutation_p.S60L|SYNE2_ENST00000458046.2_Missense_Mutation_p.S186L|SYNE2_ENST00000555022.1_Missense_Mutation_p.S407L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6552L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2914L|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3186L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6529L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6529					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCAGCAGTCAGGTACTGCC	0.512000													5	19					0	0	0.000602	0	0
NFAT5	10725	broad.mit.edu	37	16	69726682	69726682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:69726682C>T	ENST00000349945.1	+	14	4224	c.2672C>T	c.(2671-2673)tCt>tTt	p.S891F	NFAT5_ENST00000432919.1_Missense_Mutation_p.S985F|NFAT5_ENST00000567239.1_Missense_Mutation_p.S984F|NFAT5_ENST00000566899.1_Missense_Mutation_p.S891F|NFAT5_ENST00000354436.2_Missense_Mutation_p.S967F|NFAT5_ENST00000393742.2_Missense_Mutation_p.S891F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	967					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGAAACTTCTACAACTACC	0.428000													19	58					0	0	0.006122	0	0
EFR3A	23167	broad.mit.edu	37	8	132991170	132991170	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:132991170C>G	ENST00000254624.5	+	13	1628	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	EFR3A_ENST00000334503.4_Missense_Mutation_p.S468C|EFR3A_ENST00000519656.1_Missense_Mutation_p.S432C	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	468						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATCACCATCTCTCATGGAG	0.443000													35	141					0	0	0.003271	0	0
CYP24A1	1591	broad.mit.edu	37	20	52788164	52788164	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:52788164T>C	ENST00000216862.3	-	3	888	c.495A>G	c.(493-495)aaA>aaG	p.K165K	CYP24A1_ENST00000395955.3_Silent_p.K165K|CYP24A1_ENST00000395954.3_Silent_p.K23K	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	165					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTTCATTAGTTTCTTTTGAA	0.498000													40	170					0	0	0.006999	0	0
PCLO	27445	broad.mit.edu	37	7	82582282	82582282	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:82582282G>C	ENST00000333891.9	-	5	8324	c.7987C>G	c.(7987-7989)Ccc>Gcc	p.P2663A	PCLO_ENST00000423517.2_Missense_Mutation_p.P2663A	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						ACTGATGTGGGAGCTGCTTGA	0.443000													35	24					0	0	0.008740	0	0
WDR46	9277	broad.mit.edu	37	6	33247078	33247078	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33247078G>C	ENST00000374617.4	-	15	2164	c.1808C>G	c.(1807-1809)tCt>tGt	p.S603C	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	603										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GTCCAGGGCAGATGGCCGGGC	0.612000													29	137					0	0	0.010818	0	0
SLC38A1	81539	broad.mit.edu	37	12	46582754	46582754	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:46582754C>T	ENST00000398637.5	-	17	2157	c.1463G>A	c.(1462-1464)tGa>tAa	p.*488*	SLC38A1_ENST00000439706.1_Silent_p.*488*|SLC38A1_ENST00000546893.1_Silent_p.*488*|SLC38A1_ENST00000549049.1_Silent_p.*488*	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	0					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CGGCGGGTTTCAGTGGCCTTC	0.507000													17	65					0	0	0.008871	0	0
GANAB	23193	broad.mit.edu	37	11	62400737	62400737	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62400737C>T	ENST00000346178.4	-	8	718	c.703G>A	c.(703-705)Gag>Aag	p.E235K	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.E116K|GANAB_ENST00000534779.1_Missense_Mutation_p.E121K|GANAB_ENST00000356638.3_Missense_Mutation_p.E213K	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CCCTGAGTCTCCTCTGGCTGT	0.522000													7	157					0	0	0.001984	0	0
ZNF578	147660	broad.mit.edu	37	19	53014288	53014288	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53014288C>G	ENST00000421239.2	+	6	898	c.654C>G	c.(652-654)ctC>ctG	p.L218L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CATCATTACTCACACAAAAAC	0.348000													27	213					0	0	0.004656	0	0
TTC9C	283237	broad.mit.edu	37	11	62496309	62496309	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62496309T>C	ENST00000513247.2	+	2	640	c.388T>C	c.(388-390)Tgg>Cgg	p.W130R	TTC9C_ENST00000532583.1_5'UTR|TTC9C_ENST00000316461.4_5'UTR			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	0							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GCAAGAACCGTGGGCGACAGT	0.532000													8	31					0	0	0.003080	0	0
GIPC3	126326	broad.mit.edu	37	19	3586625	3586625	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3586625G>A	ENST00000322315.5	+	2	403	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	120	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGACAGAGGATGCTCTGGG	0.632000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	92					0	0	0.010504	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29419348	29419348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:29419348C>T	ENST00000283351.4	-	27	4245	c.3910G>A	c.(3910-3912)Gag>Aag	p.E1304K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1250K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1304					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAAGCTGCTCTACTGATGGC	0.348000													27	56					0	0	0.004656	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641245	161641245	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641245C>G	ENST00000367962.4	+	3	324	c.197C>G	c.(196-198)tCt>tGt	p.S66C	FCGR2B_ENST00000428605.2_Missense_Mutation_p.S66C|FCGR2B_ENST00000236937.9_Missense_Mutation_p.S66C|FCGR2B_ENST00000358671.5_Missense_Mutation_p.S66C|FCGR2B_ENST00000367960.5_Missense_Mutation_p.S59C|FCGR2B_ENST00000403078.3_Missense_Mutation_p.S66C|FCGR2B_ENST00000367961.4_Missense_Mutation_p.S59C			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	66	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAGGACTCTGTGACTCTG	0.587000			T	?	ALL								18	99					0	0	0.006122	0	0
WAPAL	23063	broad.mit.edu	37	10	88260375	88260375	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88260375C>T	ENST00000298767.5	-	3	1097	c.625G>A	c.(625-627)Gat>Aat	p.D209N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	209	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCCAAGTATCATTTGTTTCC	0.378000													41	138					0	0	0.007835	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183317	39183317	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183317C>G	ENST00000361883.5	-	1	137	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	31	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGTCTCACAGCAGCTT	0.597000													4	14					0	0	0.003080	0	0
PIGV	55650	broad.mit.edu	37	1	27124267	27124267	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27124267C>T	ENST00000374145.1	+	4	2096	c.1414C>T	c.(1414-1416)Cta>Tta	p.L472L	PIGV_ENST00000449950.2_Silent_p.L244L|PIGV_ENST00000078527.4_Silent_p.L472L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	472					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACGATACATTCTAGGCTACTT	0.502000													19	62					0	0	0.012319	0	0
SPTBN1	6711	broad.mit.edu	37	2	54882285	54882285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54882285C>T	ENST00000333896.5	+	27	6247	c.5862C>T	c.(5860-5862)ttC>ttT	p.F1954F	SPTBN1_ENST00000356805.4_Silent_p.F1967F	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1967	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATGACAGTTTCACAACCTGCA	0.423000													14	67					0	0	0.001855	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838617	16838617	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:16838617G>C	ENST00000355661.3	-	11	1606	c.1596C>G	c.(1594-1596)ttC>ttG	p.F532L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F532L|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F532L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	532					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGCCGTGCCGGAACTGCTGGC	0.677000													11	20					0	0	0.010729	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	37					0	0	0.007291	0	0
PPCDC	60490	broad.mit.edu	37	15	75335823	75335823	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75335823C>T	ENST00000342932.3	+	3	321	c.177C>T	c.(175-177)ttC>ttT	p.F59F	PPCDC_ENST00000568649.1_Silent_p.F59F|PPCDC_ENST00000567336.1_Intron|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000563393.1_5'UTR	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	59					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						CCAAACATTTCTACAGCCCCC	0.562000											OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	0.000602	0	0
MROH2B	133558	broad.mit.edu	37	5	40998246	40998246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40998246G>A	ENST00000399564.4	-	42	5116	c.4666C>T	c.(4666-4668)Cgt>Tgt	p.R1556C	MROH2B_ENST00000506092.2_Missense_Mutation_p.R1111C	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGATCTTGACGAAGTGCTTGG	0.483000													58	159					0	0	0.014410	0	0
GRK6	2870	broad.mit.edu	37	5	176867977	176867977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176867977C>T	ENST00000355472.5	+	15	1768	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Missense_Mutation_p.P534S|GRK6_ENST00000355958.5_Missense_Mutation_p.P534S|GRK6_ENST00000393576.3_Missense_Mutation_p.P500S	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	534					regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTCAGTTCCCCCAGACCT	0.612000													11	37					0	0	0.008291	0	0
APOL5	80831	broad.mit.edu	37	22	36122301	36122301	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36122301G>A	ENST00000249044.2	+	3	186	c.186G>A	c.(184-186)ttG>ttA	p.L62L		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	62					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTAACAATTTGATGTCAACTG	0.458000													30	34					0	0	0.012213	0	0
NOX5	79400	broad.mit.edu	37	15	69327705	69327705	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69327705C>T	ENST00000260364.5	+	7	1114	c.813C>T	c.(811-813)ctC>ctT	p.L271L	NOX5_ENST00000530406.2_Silent_p.L261L|NOX5_ENST00000455873.3_Silent_p.L254L|NOX5_ENST00000388866.3_Silent_p.L289L|NOX5_ENST00000448182.3_Silent_p.L243L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	289					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGATGCTCAGACGCTGCC	0.612000													5	16					0	0	0.001984	0	0
ZRSR2	8233	broad.mit.edu	37	X	15809081	15809081	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:15809081G>A	ENST00000307771.7	+	2	90	c.66G>A	c.(64-66)ctG>ctA	p.L22L	ZRSR2_ENST00000468028.1_3'UTR|ZRSR2_ENST00000380308.3_Silent_p.L22L	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	22					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGGCCGCCCTGAAGAAGGAGA	0.512000			"""F, S, Mis"""		"""MDS, CLL"""								15	4					0	0	0.004007	0	0
NCOA6	23054	broad.mit.edu	37	20	33346669	33346669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33346669C>T	ENST00000374796.2	-	7	3152	c.582G>A	c.(580-582)atG>atA	p.M194I	NCOA6_ENST00000359003.2_Missense_Mutation_p.M194I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	194	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGTGCCATCATGGAAGATG	0.478000													20	90					0	0	0.010504	0	0
COL15A1	1306	broad.mit.edu	37	9	101767278	101767278	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:101767278C>A	ENST00000375001.3	+	9	1722	c.1299C>A	c.(1297-1299)ccC>ccA	p.P433P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	433	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GTGTGGCCCCCGGGGAGCTGG	0.627000													3	70					0.004672	0.00473511	0.004672	1	0
MUC3A	4584	broad.mit.edu	37	7	100552975	100552975	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100552975G>C	ENST00000319509.7	+	2	1620	c.1620G>C	c.(1618-1620)caG>caC	p.Q540H						mucin 3A, cell surface associated									p.Q540Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAGATGCCAGAATGGGGGTC	0.572000													11	77					0	0	0.008291	0	0
ZNF830	91603	broad.mit.edu	37	17	33288630	33288630	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:33288630G>A	ENST00000361952.3	+	1	82	c.45G>A	c.(43-45)gtG>gtA	p.V15V		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	15					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGAAGCGAGTGATAAATCAGG	0.557000													26	64					0	0	0.003271	0	0
UBE3A	7337	broad.mit.edu	37	15	25584354	25584354	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:25584354G>A	ENST00000232165.3	-	13	3205	c.2549C>T	c.(2548-2550)tCa>tTa	p.S850L	UBE3A_ENST00000566215.1_Missense_Mutation_p.S830L|UBE3A_ENST00000397954.2_Missense_Mutation_p.S853L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.S830L|UBE3A_ENST00000438097.1_Missense_Mutation_p.S830L	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	853	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTTTGCTTGAGTATTCCGG	0.333000													22	63					0	0	0.002780	0	0
CLIP4	79745	broad.mit.edu	37	2	29354254	29354254	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:29354254T>C	ENST00000320081.5	+	3	519	c.264T>C	c.(262-264)atT>atC	p.I88I	CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000401605.1_Silent_p.I88I|CLIP4_ENST00000404424.1_Silent_p.I88I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	88										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGACATTATTGGAAATGAGG	0.338000													6	189					0	0	0.001168	0	0
NOBOX	135935	broad.mit.edu	37	7	144101707	144101707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:144101707G>A	ENST00000467773.1	-	2	151	c.152C>T	c.(151-153)tCt>tTt	p.S51F	NOBOX_ENST00000483238.1_Missense_Mutation_p.S51F	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	51					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGAGCTGAAAGAGCCACAGAC	0.577000													18	71					0	0	0.007413	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012852	101012852	+	Silent	SNP	C	C	G	rs150444261		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:101012852C>G	ENST00000443071.2	-	2	307	c.162G>C	c.(160-162)acG>acC	p.T54T	BEGAIN_ENST00000556751.1_5'UTR|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000355173.2_Silent_p.T54T	NM_001159531.1	NP_001153003.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	54						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCAGCTTCTCCGTGACCTTCT	0.756000													4	7					0	0	0.001168	0	0
PCBP2	5094	broad.mit.edu	37	12	53861124	53861124	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53861124G>A	ENST00000541275.1	+	13	1383	c.834G>A	c.(832-834)gaG>gaA	p.E278E	PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000546463.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000447282.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000552296.2_Intron			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	0					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GTGCAAGAGAGAGGCCAGTCC	0.458000													43	42					0	0	0.008740	0	0
RIMS2	9699	broad.mit.edu	37	8	105235966	105235966	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:105235966C>T	ENST00000339750.2	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCCTCCTTCGAGGCACTGG	0.637000										HNSCC(12;0.0054)			5	18					0	0	0.001168	0	0
GTF3C5	9328	broad.mit.edu	37	9	135906463	135906463	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:135906463G>A	ENST00000372097.5	+	1	388	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R22Q|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R22Q	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	22						transcription factor TFIIIC complex	DNA binding|protein binding	p.R22Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721000													5	15					0	0	0.000602	0	0
ULK1	8408	broad.mit.edu	37	12	132380364	132380364	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132380364T>C	ENST00000321867.4	+	3	592	c.241T>C	c.(241-243)Ttc>Ctc	p.F81L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	81	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTGTACGACTTCCAGGTAAG	0.617000													7	57					0	0	0.004482	0	0
PLSCR5	389158	broad.mit.edu	37	3	146311816	146311816	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:146311816G>C	ENST00000443512.1	-	4	1347	c.344C>G	c.(343-345)aCt>aGt	p.T115S	PLSCR5_ENST00000482567.1_Missense_Mutation_p.T103S|PLSCR5_ENST00000492200.1_Missense_Mutation_p.T115S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	115										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGATCGCAGAGTGGAACAGAA	0.458000													40	135					0	0	0.006230	0	0
CASQ1	844	broad.mit.edu	37	1	160162631	160162631	+	Missense_Mutation	SNP	G	G	A	rs143532190		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160162631G>A	ENST00000368079.3	+	2	576	c.301G>A	c.(301-303)Ggg>Agg	p.G101R	CASQ1_ENST00000368078.3_Missense_Mutation_p.G107R	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	107						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTGGCTTCGGGCTGGTAGA	0.512000											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	281					0	0	0.004289	0	0
RAB19	401409	broad.mit.edu	37	7	140125723	140125723	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:140125723G>C	ENST00000275874.5	+	5	766	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	RAB19_ENST00000537763.1_Missense_Mutation_p.E143Q|RAB19_ENST00000356407.3_Missense_Mutation_p.E143Q			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	143					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGTCCTGTTCGAGGATGCCTG	0.468000													44	132					0	0	0.010771	0	0
HECTD1	25831	broad.mit.edu	37	14	31602842	31602842	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:31602842C>G	ENST00000399332.1	-	23	4106	c.3618G>C	c.(3616-3618)gaG>gaC	p.E1206D	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1206D	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1206					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACCCTTGTTTCTCATCCTTTG	0.363000													15	51					0	0	0.002450	0	0
GNA14	9630	broad.mit.edu	37	9	80262682	80262682	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:80262682C>T	ENST00000341700.6	-	1	541	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	10					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCTTCTCCTCCGCGGACAGG	0.701000													4	7					0	0	0.000602	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104080913	104080913	+	Missense_Mutation	SNP	C	C	G	rs71650117		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:104080913C>G	ENST00000395862.3	+	13	1246	c.1087C>G	c.(1087-1089)Caa>Gaa	p.Q363E	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q363E|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q288E|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q288E	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	363					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAACCTGAGTCAACAAGAATA	0.368000													16	100					0	0	0.006122	0	0
SLC35F4	341880	broad.mit.edu	37	14	58047974	58047974	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:58047974C>A	ENST00000556826.1	-	4	1001	c.765G>T	c.(763-765)ttG>ttT	p.L255F	RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000554729.1_Missense_Mutation_p.L132F|SLC35F4_ENST00000339762.6_Missense_Mutation_p.L291F	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCATGACAGCAAGAAGACAA	0.443000													8	20					0.000274275	0.000279673	0.004482	1	0
KLHL18	23276	broad.mit.edu	37	3	47378043	47378043	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:47378043T>C	ENST00000232766.5	+	7	937	c.917T>C	c.(916-918)gTg>gCg	p.V306A	KLHL18_ENST00000455924.2_Missense_Mutation_p.V194A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	306										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTGAATGTGGTGGAAGTGTTC	0.478000													30	14					0	0	0.008361	0	0
USP6	9098	broad.mit.edu	37	17	5058719	5058719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5058719G>A	ENST00000574788.1	+	31	4876	c.2646G>A	c.(2644-2646)atG>atA	p.M882I	USP6_ENST00000304328.5_Missense_Mutation_p.M565I|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.M882I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	882					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACATACAGATGAGGACAGAAC	0.453000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								71	30					0	0	0.014410	0	0
C6orf136	221545	broad.mit.edu	37	6	30617717	30617717	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:30617717A>G	ENST00000293604.6	+	2	1191	c.998A>G	c.(997-999)tAt>tGt	p.Y333C	C6orf136_ENST00000376473.5_Missense_Mutation_p.Y152C|C6orf136_ENST00000528347.2_Missense_Mutation_p.Y9C|C6orf136_ENST00000376471.4_Intron	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	152										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTGTCATGTATGAGAGACTG	0.527000													20	53					0	0	0.010504	0	0
OLFML1	283298	broad.mit.edu	37	11	7509610	7509610	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:7509610G>A	ENST00000329293.3	+	2	776	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	OLFML1_ENST00000530135.1_Missense_Mutation_p.E128K|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Intron	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	128						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCAAGAAGCTGAAGAAGAGAA	0.458000													7	15					0	0	0.003080	0	0
BCAR3	8412	broad.mit.edu	37	1	94033313	94033313	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94033313G>A	ENST00000370244.1	-	12	2358	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	BCAR3_ENST00000370243.1_Silent_p.L690L|BCAR3_ENST00000260502.6_Silent_p.L690L|BCAR3_ENST00000370247.3_Silent_p.L599L|BCAR3_ENST00000539242.1_Silent_p.L366L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	690	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTTCATGCAGGAGTTTGCTGA	0.547000													26	62					0	0	0.003330	0	0
SNF8	11267	broad.mit.edu	37	17	47022045	47022045	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:47022045C>T	ENST00000502492.1	-	1	434	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SNF8_ENST00000290330.3_Missense_Mutation_p.E18K			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	18					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	p.E18Q(1)		breast(1)|endometrium(1)|lung(1)	3						CTGCTCACCTCTGCAAGTTTC	0.677000													48	132					0	0	0.014410	0	0
TMC7	79905	broad.mit.edu	37	16	19041668	19041668	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:19041668G>A	ENST00000421369.3	+	6	1062	c.504G>A	c.(502-504)ctG>ctA	p.L168L	TMC7_ENST00000304381.5_Silent_p.L278L|TMC7_ENST00000569532.1_Silent_p.L278L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	278						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCCTGGCCCTGAGCCTTCTTT	0.473000													53	56					0	0	0.014410	0	0
SYTL3	94120	broad.mit.edu	37	6	159173048	159173048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159173048C>T	ENST00000297239.9	+	12	1317	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	SYTL3_ENST00000367081.3_Nonsense_Mutation_p.Q101*|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.Q307*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	375	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCCGACCTTTCAGGAGACCTT	0.577000													5	29					0	0	0.000602	0	0
GLDC	2731	broad.mit.edu	37	9	6605254	6605254	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:6605254C>T	ENST00000321612.6	-	6	888	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	246					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGGGTAACTTCAGCTCAGTGA	0.433000													14	61					0	0	0.001855	0	0
SUGP1	57794	broad.mit.edu	37	19	19420949	19420949	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:19420949G>A	ENST00000247001.5	-	3	614	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Silent_p.F89F	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	89					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACTGCTGCAAGAAGCTACCAT	0.517000													15	65					0	0	0.004007	0	0
TMEM72	643236	broad.mit.edu	37	10	45430175	45430175	+	Missense_Mutation	SNP	G	G	A	rs140679942	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:45430175G>A	ENST00000544540.1	+	4	551	c.67G>A	c.(67-69)Gag>Aag	p.E23K	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	141						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGCTGCCCCCGAGGTGCTGGC	0.602000													33	194					0	0	0.005524	0	0
SMC5	23137	broad.mit.edu	37	9	72930468	72930468	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:72930468G>A	ENST00000361138.5	+	13	1838	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	594	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGTAGGAACTGAAAAGACCAG	0.353000													50	49					0	0	0.014410	0	0
TFB2M	64216	broad.mit.edu	37	1	246729307	246729307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:246729307G>A	ENST00000366514.4	-	1	319	c.134C>T	c.(133-135)tCt>tTt	p.S45F	TFB2M_ENST00000544618.1_Missense_Mutation_p.S45F	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	45					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGAGGAGTCAGAGAGCCCACA	0.592000													14	60					0	0	0.003163	0	0
ZNF281	23528	broad.mit.edu	37	1	200377338	200377338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:200377338G>A	ENST00000294740.3	-	2	1620	c.1496C>T	c.(1495-1497)cCa>cTa	p.P499L	ZNF281_ENST00000367352.3_Missense_Mutation_p.P463L|ZNF281_ENST00000367353.1_Missense_Mutation_p.P499L	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGAGCCACTTGGTTTTCCAGA	0.368000													37	124					0	0	0.004878	0	0
TDRD5	163589	broad.mit.edu	37	1	179609578	179609578	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179609578G>C	ENST00000444136.1	+	11	2048	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	TDRD5_ENST00000294848.8_Missense_Mutation_p.E600Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.E600Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	600					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGACCAGTAGAGGTATGTTT	0.408000													19	89					0	0	0.012319	0	0
ASAP2	8853	broad.mit.edu	37	2	9540887	9540887	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9540887G>A	ENST00000281419.3	+	26	3091	c.2751G>A	c.(2749-2751)acG>acA	p.T917T	ASAP2_ENST00000315273.4_Silent_p.T872T|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	917	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCTCTGCAACGGAAGCTCTGG	0.532000													11	62					0	0	0.010729	0	0
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs149509898	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:97607265C>T	ENST00000371203.5	+	6	1049	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ENTPD1_ENST00000453258.2_Silent_p.N299N|ENTPD1_ENST00000543964.1_Silent_p.N184N|ENTPD1_ENST00000371207.3_Silent_p.N304N|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1_ENST00000371205.4_Silent_p.N292N|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418000													35	100					0	0	0.003271	0	0
SHF	90525	broad.mit.edu	37	15	45460156	45460156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45460156G>C	ENST00000290894.8	-	8	1755	c.1261C>G	c.(1261-1263)Cgg>Ggg	p.R421G	SHF_ENST00000560734.1_3'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R237G|SHF_ENST00000560540.1_3'UTR|SHF_ENST00000318390.6_Missense_Mutation_p.R431G	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TAAAGAGTCCGGATGGCCACA	0.587000											OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	0.001855	0	0
C4BPA	722	broad.mit.edu	37	1	207317297	207317297	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:207317297G>A	ENST00000367070.3	+	11	1773	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	527	Sushi 8.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CACTTGCTCTGGGAACAGAAC	0.493000													32	51					0	0	0.010818	0	0
GPR179	440435	broad.mit.edu	37	17	36486038	36486038	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:36486038C>T	ENST00000342292.4	-	11	3434	c.3414G>A	c.(3412-3414)gtG>gtA	p.V1138V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1138						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGCTTACTCACCGCCTTGG	0.632000													35	42					0	0	0.003271	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868130	39868130	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39868130G>A	ENST00000314471.6	+	10	2145	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	SAMD4B_ENST00000598913.1_Silent_p.V370V|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	370	SAM.						protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGGATGTGCTGGAAGGCG	0.582000													17	58					0	0	0.006122	0	0
TSC22D1	8848	broad.mit.edu	37	13	45147906	45147906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45147906G>A	ENST00000458659.2	-	1	2795	c.2305C>T	c.(2305-2307)Caa>Taa	p.Q769*	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	769	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATCCCAGTTTGAGCAGGTGGA	0.493000													19	62					0	0	0.006122	0	0
TEX14	56155	broad.mit.edu	37	17	56650602	56650602	+	Missense_Mutation	SNP	A	A	C	rs140397968		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56650602A>C	ENST00000389934.3	-	24	3688	c.3571T>G	c.(3571-3573)Tca>Gca	p.S1191A	TEX14_ENST00000240361.8_Missense_Mutation_p.S1197A|TEX14_ENST00000349033.5_Missense_Mutation_p.S1151A	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1197						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTTGCATGAAGCTTCCTTA	0.428000													60	214					0	0	0.014410	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008759	41008759	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41008759G>A	ENST00000352632.3	+	11	1367	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	SPTBN4_ENST00000338932.3_Silent_p.L427L|SPTBN4_ENST00000344104.3_Silent_p.L427L|SPTBN4_ENST00000595535.1_Silent_p.L427L|SPTBN4_ENST00000598249.1_Silent_p.L427L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	427					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGAAGCTGGAACTACTGG	0.597000													50	70					0	0	0.014410	0	0
SLC9A8	23315	broad.mit.edu	37	20	48466215	48466215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:48466215C>T	ENST00000417961.1	+	6	742	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	SLC9A8_ENST00000361573.2_Nonsense_Mutation_p.Q178*|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	178						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTCTGGGTCAGGTAAGAAA	0.443000													29	54					0	0	0.007291	0	0
FOXH1	8928	broad.mit.edu	37	8	145700598	145700598	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145700598T>C	ENST00000377317.4	-	2	799	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	74					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCAGCCCTCGTAGTCTTCCCT	0.682000													5	17					0	0	0.000602	0	0
GCLM	2730	broad.mit.edu	37	1	94370097	94370097	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:94370097G>A	ENST00000370238.3	-	2	420	c.174C>T	c.(172-174)atC>atT	p.I58I	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	58					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATCTGGGTTGATTTGGGAAC	0.338000													16	79					0	0	0.007413	0	0
BCAS3	54828	broad.mit.edu	37	17	59067592	59067592	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:59067592G>A	ENST00000589222.1	+	15	1550	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	BCAS3_ENST00000390652.5_Silent_p.L494L|BCAS3_ENST00000588874.1_Silent_p.L265L|BCAS3_ENST00000407086.3_Silent_p.L494L|BCAS3_ENST00000585744.1_Silent_p.L265L|BCAS3_ENST00000408905.3_Silent_p.L494L|BCAS3_ENST00000588462.1_Silent_p.L494L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	494						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGTCACCCTTGCATGGTAATT	0.438000													21	52					0	0	0.014323	0	0
EVC2	132884	broad.mit.edu	37	4	5578040	5578040	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5578040C>T	ENST00000310917.2	-	18	3690	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	EVC2_ENST00000344408.5_Missense_Mutation_p.E1067K|EVC2_ENST00000344938.1_Missense_Mutation_p.E1067K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1067						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACCTGCCTTTCAGAATCCACC	0.617000													30	100					0	0	0.010818	0	0
RCAN1	1827	broad.mit.edu	37	21	35895991	35895991	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895991G>C	ENST00000481448.1	-	3	726	c.240C>G	c.(238-240)ctC>ctG	p.L80L	RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000313806.4_Silent_p.L90L|RCAN1_ENST00000399272.1_Silent_p.L9L|RCAN1_ENST00000381132.2_Silent_p.L35L|RCAN1_ENST00000492600.1_Silent_p.L35L|RCAN1_ENST00000381135.3_Silent_p.L80L|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR			P53805	RCAN1_HUMAN	regulator of calcineurin 1	90					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						ACGTCCTAAAGAGGGACTCAA	0.378000													30	59					0	0	0.008361	0	0
PEX26	55670	broad.mit.edu	37	22	18566437	18566437	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:18566437G>A	ENST00000329627.7	+	4	812	c.606G>A	c.(604-606)gcG>gcA	p.A202A	PEX26_ENST00000399744.3_Silent_p.A202A|PEX26_ENST00000428061.2_Silent_p.A202A	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCACACAGCGAGGCAGCAGC	0.572000													15	24					0	0	0.006122	0	0
POU6F1	5463	broad.mit.edu	37	12	51584140	51584140	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:51584140C>T	ENST00000389243.4	-	11	1735	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	POU6F1_ENST00000550824.1_Missense_Mutation_p.E266K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E266K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	266					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.E266K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TTAGCAATTTCAGTGATCTCC	0.547000													35	134					0	0	0.013726	0	0
ZRANB1	54764	broad.mit.edu	37	10	126670348	126670348	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126670348G>A	ENST00000359653.4	+	6	1869	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	500	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TTCCTTGAGAGAAGAACAGTG	0.378000													17	51					0	0	0.006122	0	0
SMARCA2	6595	broad.mit.edu	37	9	2060921	2060921	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060921C>T	ENST00000382203.1	+	9	1836	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	SMARCA2_ENST00000349721.2_Silent_p.L543L|SMARCA2_ENST00000382194.1_Silent_p.L543L|SMARCA2_ENST00000357248.2_Silent_p.L543L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	543					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)		TCTGACCAATCTGGTTTGGGA	0.488000													11	56					0	0	0.010729	0	0
MTIF2	4528	broad.mit.edu	37	2	55471226	55471226	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55471226C>T	ENST00000394600.3	-	12	1986	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	MTIF2_ENST00000403721.1_Missense_Mutation_p.G417E|MTIF2_ENST00000263629.4_Missense_Mutation_p.G417E	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	417					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCTGTAATTCCCACTGGCAT	0.393000													47	40					0	0	0.014410	0	0
ATAD3A	55210	broad.mit.edu	37	1	1459719	1459719	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1459719C>T	ENST00000378755.5	+	11	1394	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	ATAD3A_ENST00000536055.1_Missense_Mutation_p.R307W|ATAD3A_ENST00000378756.3_Missense_Mutation_p.R386W	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	434							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CCCCATGGGGCGGGAAGGCGT	0.647000													8	59					0	0	0.010729	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612455	54612455	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:54612455C>T	ENST00000302287.3	+	2	626	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	VSTM2A_ENST00000404951.1_Missense_Mutation_p.P74S|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P74S|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P73S|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P74S			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	74	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGACCTGGATCCCGGGGCCGA	0.736000													7	14					0	0	0.001984	0	0
PKM	5315	broad.mit.edu	37	15	72499149	72499149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72499149C>T	ENST00000319622.6	-	8	1516	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	PKM_ENST00000449901.2_Missense_Mutation_p.D339N|PKM_ENST00000565184.1_Missense_Mutation_p.D354N|PKM_ENST00000565154.1_Missense_Mutation_p.D354N|PKM_ENST00000335181.5_Missense_Mutation_p.D354N|PKM_ENST00000568459.1_Missense_Mutation_p.D354N|PKM_ENST00000568883.1_Missense_Mutation_p.D189N|PKM_ENST00000389093.3_Missense_Mutation_p.D354N	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						TCGGCTCCATCCAGGACTGCA	0.592000													27	21					0	0	0.007291	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218707	134218707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134218707G>A	ENST00000305233.5	+	2	762	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PWWP2B_ENST00000368609.4_Missense_Mutation_p.E235K	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	235										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAGCAAGAGGGAGAGGCGCGA	0.716000													3	7					0	0	0.004672	0	0
ZNF283	284349	broad.mit.edu	37	19	44351438	44351438	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44351438C>T	ENST00000324461.7	+	7	982	c.685C>T	c.(685-687)Cat>Tat	p.H229Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H90Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAGAGAACTCATACAGCTGA	0.368000													37	64					0	0	0.005524	0	0
TRAF7	84231	broad.mit.edu	37	16	2215900	2215900	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2215900C>T	ENST00000326181.6	+	3	234	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	34					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AAACGACCTTCGGACCCGCCT	0.607000													6	21					0	0	0.001984	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45149590C>T	ENST00000458659.2	-	1	1111	c.621G>A	c.(619-621)caG>caA	p.Q207Q	TSC22D1_ENST00000501704.2_Silent_p.Q207Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	207	His-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.527000													22	19					0	0	0.014323	0	0
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LPAR6_ENST00000345941.2_Silent_p.F316F|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338000													46	61					0	0	0.011902	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745699	30745699	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30745699G>A	ENST00000217315.5	+	14	1721	c.1381G>A	c.(1381-1383)Gac>Aac	p.D461N	TM9SF4_ENST00000398022.2_Missense_Mutation_p.D478N			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	478						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGCCATATGACAACCCTGT	0.592000													41	57					0	0	0.014410	0	0
C10orf76	79591	broad.mit.edu	37	10	103789330	103789330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:103789330G>A	ENST00000311122.5	-	5	598	c.479C>T	c.(478-480)tCa>tTa	p.S160L	C10orf76_ENST00000370033.4_Intron			Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	0						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTTGTCTGCTGATAGTGTCCA	0.438000													9	40					0	0	0.004482	0	0
GPR83	10888	broad.mit.edu	37	11	94113903	94113903	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:94113903G>T	ENST00000243673.2	-	4	855	c.684C>A	c.(682-684)ttC>ttA	p.F228L	GPR83_ENST00000539203.2_Missense_Mutation_p.F186L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	228						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGCTCAGGGAAGTCTGGCA	0.572000													5	24					5.9392e-07	6.1105e-07	0.001168	1	0
MS4A14	84689	broad.mit.edu	37	11	60164085	60164085	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:60164085C>T	ENST00000300187.6	+	1	311	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.H12Y|MS4A14_ENST00000531783.1_Missense_Mutation_p.H12Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	12						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGGGCAACTCACGTCATCAC	0.453000													12	27					0	0	0.013537	0	0
BCL11A	53335	broad.mit.edu	37	2	60688925	60688925	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:60688925G>C	ENST00000335712.6	-	4	1349	c.1122C>G	c.(1120-1122)gtC>gtG	p.V374V	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.V340V|BCL11A_ENST00000356842.4_Silent_p.V374V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.V340V|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	374					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTTGGACTTGACCGGGGGCT	0.632000			T	IGH@	B-CLL								30	80					0	0	0.008361	0	0
ZFP2	80108	broad.mit.edu	37	5	178359071	178359071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178359071C>T	ENST00000361362.2	+	5	1287	c.757C>T	c.(757-759)Caa>Taa	p.Q253*	ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q253*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGCCTTCAGTCAAAGCATGCA	0.383000													18	72					0	0	0.008871	0	0
CASQ2	845	broad.mit.edu	37	1	116245548	116245548	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:116245548G>A	ENST00000261448.5	-	10	1247	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	CASQ2_ENST00000456138.2_Silent_p.V265V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	336					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACATCTGTGACATTCACCA	0.483000													9	15					0	0	0.004482	0	0
LEO1	123169	broad.mit.edu	37	15	52250986	52250986	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:52250986C>G	ENST00000299601.5	-	6	1258	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	400					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATTTCTTCATCTTCAAATTCA	0.274000													22	65					0	0	0.014323	0	0
CNDP2	55748	broad.mit.edu	37	18	72167257	72167257	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:72167257C>T	ENST00000324262.4	+	2	365	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	CNDP2_ENST00000579847.1_Missense_Mutation_p.R17C|CNDP2_ENST00000324301.8_Missense_Mutation_p.R17C	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	17						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AAATCAGGATCGCTACATTAA	0.428000													12	19					0	0	0.013537	0	0
CSF2RB	1439	broad.mit.edu	37	22	37331726	37331726	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37331726C>T	ENST00000262825.5	+	12	1696	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	CSF2RB_ENST00000403662.3_Silent_p.F487F|CSF2RB_ENST00000406230.1_Silent_p.F493F|CSF2RB_ENST00000536485.1_Silent_p.F434F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	487					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCACCTGTTCCAGGTAGGAA	0.612000													5	14					0	0	0.000602	0	0
XPO4	64328	broad.mit.edu	37	13	21371070	21371070	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:21371070C>T	ENST00000400602.2	-	17	2484	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	XPO4_ENST00000255305.6_Missense_Mutation_p.E817K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	817					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGGTAGCCTCAGCAATGCCA	0.428000													18	68					0	0	0.007413	0	0
RTN4	57142	broad.mit.edu	37	2	55253818	55253818	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:55253818C>T	ENST00000337526.6	-	3	1660	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E267K|RTN4_ENST00000404909.1_Missense_Mutation_p.E267K|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.E241K|RTN4_ENST00000357376.3_Missense_Mutation_p.E267K|RTN4_ENST00000405240.1_Missense_Mutation_p.E267K|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	473					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCAATGCTCTCAGTTGCTGCT	0.388000													131	215					0	0	0.014410	0	0
ELP2	55250	broad.mit.edu	37	18	33722792	33722792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722792G>C	ENST00000358232.6	+	8	722	c.659G>C	c.(658-660)aGa>aCa	p.R220T	ELP2_ENST00000350494.6_Missense_Mutation_p.R259T|ELP2_ENST00000442325.2_Missense_Mutation_p.R285T|ELP2_ENST00000423854.2_Missense_Mutation_p.R150T|ELP2_ENST00000542824.1_Missense_Mutation_p.R194T|ELP2_ENST00000351393.6_Missense_Mutation_p.R194T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	220					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TAATTAGGTAGAGATCTTTTC	0.264000													23	45					0	0	0.003954	0	0
SOX9	6662	broad.mit.edu	37	17	70119040	70119040	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:70119040C>T	ENST00000245479.2	+	2	984	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	204					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACGCCATCTTCAAGGCGCTGC	0.677000													35	39					0	0	0.006230	0	0
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975835	88975835	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88975835C>T	ENST00000451940.2	-	0	600																											CTGAAGGTCTCATTGTACACA	0.527000													4	21					0	0	0.000602	0	0
MIR523	574471	broad.mit.edu	37	19	54201673	54201673	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54201673C>T	ENST00000385281.1	+	0	35					NR_030193.1																						GAAGCGCTTTCTGTTGTCTGA	0.438000													23	162					0	0	0.014323	0	0
CLIP1	6249	broad.mit.edu	37	12	122817644	122817644	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:122817644C>G	ENST00000358808.2	-	14	2878	c.2724G>C	c.(2722-2724)ctG>ctC	p.L908L	CLIP1_ENST00000540338.1_Silent_p.L919L|CLIP1_ENST00000302528.7_Silent_p.L908L|CLIP1_ENST00000361654.4_Silent_p.L797L|CLIP1_ENST00000545889.1_Silent_p.L494L|CLIP1_ENST00000537178.1_Silent_p.L873L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	919					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCCTTTATCAGCTGCTCTT	0.343000													18	36					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179606140	179606140	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:179606140G>C	ENST00000589042.1	-	48	12044	c.11820C>G	c.(11818-11820)ttC>ttG	p.F3940L	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.F3623L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F3577L|TTN_ENST00000342175.6_Missense_Mutation_p.F3769L|TTN_ENST00000359218.5_Missense_Mutation_p.F3702L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3623							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCTTAAGGAAGTGAGGAG	0.458000													61	126					0	0	0.014410	0	0
ZNF608	57507	broad.mit.edu	37	5	124080028	124080028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124080028G>A	ENST00000306315.5	-	1	1090	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	219						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGTGGCCCTGAAGCAGGTCG	0.617000													41	29					0	0	0.014410	0	0
PLVAP	83483	broad.mit.edu	37	19	17476312	17476312	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17476312G>A	ENST00000252590.4	-	3	1023	c.962C>T	c.(961-963)gCg>gTg	p.A321V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	321						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTCTGTTTCGCCTCCTGACT	0.667000													9	33					0	0	0.004482	0	0
C19orf52	90580	broad.mit.edu	37	19	11040318	11040318	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11040318G>A	ENST00000270502.6	+	2	813	c.723G>A	c.(721-723)aaG>aaA	p.K241K		NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	241										prostate(1)	1						AGAAGGAGAAGAAGGACAGGC	0.637000													15	11					0	0	0.003163	0	0
ZNF35	7584	broad.mit.edu	37	3	44700379	44700379	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:44700379G>T	ENST00000396056.2	+	4	759	c.524G>T	c.(523-525)aGa>aTa	p.R175I	ZNF35_ENST00000542250.1_Missense_Mutation_p.R15I|ZNF35_ENST00000453164.1_3'UTR|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	175	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAAGATTTCAGACAAGTGATA	0.383000													109	38					3.12436e-70	3.33266e-70	0.014410	1	0
SYT5	6861	broad.mit.edu	37	19	55686347	55686347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:55686347G>C	ENST00000354308.3	-	7	1098	c.729C>G	c.(727-729)atC>atG	p.I243M	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.I243M|SYT5_ENST00000590851.1_Missense_Mutation_p.I239M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	243					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGAGAAGCAGATGTCCCCAA	0.607000													68	28					0	0	0.014410	0	0
MS4A2	2206	broad.mit.edu	37	11	59856269	59856269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:59856269C>T	ENST00000278888.3	+	1	133	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	11					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	p.L11V(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAGAGCAAATCTTGCTCTCCC	0.413000													11	21					0	0	0.010729	0	0
ACTG1	71	broad.mit.edu	37	17	79478272	79478272	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79478272G>A	ENST00000575842.1	-	3	1170	c.744C>T	c.(742-744)atC>atT	p.I248I	ACTG1_ENST00000331925.2_Silent_p.I248I|ACTG1_ENST00000575087.1_Silent_p.I248I|ACTG1_ENST00000573283.1_Silent_p.I248I			P63261	ACTG_HUMAN	actin, gamma 1	248					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGCCAATGGTGATGACCTGGC	0.587000													50	75					0	0	0.014410	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158404	26158404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158404G>A	ENST00000289316.2	+	1	31	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E3K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	3					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						TACGATGCCTGAACCTACCAA	0.507000													15	51					0	0	0.003163	0	0
STEAP4	79689	broad.mit.edu	37	7	87912268	87912268	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:87912268G>C	ENST00000380079.4	-	3	773	c.672C>G	c.(670-672)atC>atG	p.I224M	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.I224M|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	224					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATAAGGGTAGATTACGTCTC	0.383000													15	75					0	0	0.003163	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701408	195701408	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:195701408C>T	ENST00000427841.1	-	0	1416					NR_003264.2																						CGGGCACAATCTGATCCTGGC	0.587000													15	76					0	0	0.004990	0	0
YARS	8565	broad.mit.edu	37	1	33245125	33245125	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33245125C>T	ENST00000373477.4	-	12	2243		c.e12-1		YARS_ENST00000469100.1_Splice_Site	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TATCCCTTCTCTGGGAAGACA	0.562000													20	47					0	0	0.007413	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562892	145562892	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:145562892T>G	ENST00000355594.4	+	10	2667	c.2580T>G	c.(2578-2580)taT>taG	p.Y860*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	860										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAAAAGTATAATACGGCCT	0.677000													10	2					0	0	0.013537	0	0
OTOF	9381	broad.mit.edu	37	2	26726693	26726693	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:26726693G>A	ENST00000272371.2	-	6	656	c.530C>T	c.(529-531)tCc>tTc	p.S177F	OTOF_ENST00000403946.3_Missense_Mutation_p.S177F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	177					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATGGCGGAGAACACGCT	0.632000													16	77					0	0	0.003163	0	0
SMARCA2	6595	broad.mit.edu	37	9	2060974	2060974	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:2060974G>T	ENST00000382203.1	+	9	1889	c.1680G>T	c.(1678-1680)agG>agT	p.R560S	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R560S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R560S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R560S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	560	Poly-Arg.				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)		agaagaggaggaggaggaaga	0.493000													23	25					5.45024e-15	5.73488e-15	0.003330	1	0
ITGB3BP	23421	broad.mit.edu	37	1	63920112	63920112	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:63920112G>A	ENST00000371092.3	-	7	543	c.483C>T	c.(481-483)ctC>ctT	p.L161L	ITGB3BP_ENST00000271002.10_Silent_p.L122L|ITGB3BP_ENST00000283568.8_Silent_p.L122L|ITGB3BP_ENST00000461681.1_5'UTR	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	122					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						AGATTCCAATGAGATTTTCAA	0.343000													15	53					0	0	0.002450	0	0
NACC1	112939	broad.mit.edu	37	19	13246852	13246852	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13246852C>T	ENST00000292431.4	+	2	957	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	277					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCCCTGGCTCCTACCACAATG	0.627000													14	12					0	0	0.004990	0	0
HSD17B14	51171	broad.mit.edu	37	19	49334955	49334955	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49334955C>T	ENST00000263278.4	-	5	605	c.339G>A	c.(337-339)ctG>ctA	p.L113L	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	113					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCAGTAGGTTCAGCTCCAGCA	0.612000													20	98					0	0	0.002780	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38597188	38597188	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:38597188G>A	ENST00000222345.6	+	7	2550	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	681	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGACTCCACGGGAACCCACTC	0.507000													8	103					0	0	0.010729	0	0
KIF22	3835	broad.mit.edu	37	16	29814250	29814250	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:29814250G>A	ENST00000561482.1	+	9	1874	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.E413K|KIF22_ENST00000569382.2_Missense_Mutation_p.E413K|KIF22_ENST00000160827.4_Missense_Mutation_p.E481K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	481					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAAGGACCTAGAGATTGAGGT	0.552000													24	28					0	0	0.004656	0	0
OTX1	5013	broad.mit.edu	37	2	63282997	63282997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:63282997C>T	ENST00000282549.2	+	5	887	c.611C>T	c.(610-612)tCg>tTg	p.S204L	OTX1_ENST00000366671.3_Missense_Mutation_p.S204L	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	204						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCAACACCTCGTGTATGCAG	0.682000													4	4					0	0	0.008291	0	0
ZAN	7455	broad.mit.edu	37	7	100391797	100391797	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100391797C>T	ENST00000542585.1	+	0	8252				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGCCAGCTCACGGATCCTG	0.617000													49	34					0	0	0.014410	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183285	39183285	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39183285C>T	ENST00000361883.5	-	1	169	c.123G>A	c.(121-123)caG>caA	p.Q41Q		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	41	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			AGAAGCTAGTCTGGCAGCTGC	0.607000													9	23					0	0	0.008291	0	0
ACACA	31	broad.mit.edu	37	17	35545234	35545234	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35545234C>T	ENST00000353139.5	-	39	5240	c.4759G>A	c.(4759-4761)Gac>Aac	p.D1587N	ACACA_ENST00000360679.3_Missense_Mutation_p.D1492N|ACACA_ENST00000335166.5_Missense_Mutation_p.D1472N|ACACA_ENST00000394406.2_Missense_Mutation_p.D1550N	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1550					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTCCTGGAGTCAGTCACTTCC	0.468000													26	29					0	0	0.005443	0	0
EBAG9	9166	broad.mit.edu	37	8	110575628	110575628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:110575628C>G	ENST00000531677.1	+	6	524	c.524C>G	c.(523-525)tCc>tGc	p.S175C	EBAG9_ENST00000337573.5_Intron|EBAG9_ENST00000395785.2_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCTTCAGATCCAGGACCAAT	0.433000													67	376					0	0	0.014410	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862559	84862559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84862559G>A	ENST00000403245.3	-	23	3448	c.3334C>T	c.(3334-3336)Cag>Tag	p.Q1112*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.Q1036*|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	1112					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTGTCTTTCTGAAGCCTCTCC	0.403000													28	52					0	0	0.005443	0	0
PCOLCE	5118	broad.mit.edu	37	7	100201832	100201832	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100201832C>T	ENST00000223061.5	+	3	735	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	152					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.S152*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGGCCACCTCGGGCACTGGT	0.736000													4	33					0	0	0.000602	0	0
MIR527	574497	broad.mit.edu	37	19	54257304	54257304	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54257304C>G	ENST00000385244.1	+	0	33					NR_030219.1																						GAAGCCCTTTCTGTTGTCTAA	0.428000													43	270					0	0	0.009718	0	0
DOPEY2	9980	broad.mit.edu	37	21	37642413	37642413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:37642413C>T	ENST00000399151.3	+	27	5675	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1864					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCCAACCTCAGGCCTCTCT	0.527000													61	62					0	0	0.014410	0	0
PTPRF	5792	broad.mit.edu	37	1	44019601	44019601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44019601C>T	ENST00000359947.4	+	5	708	c.368C>T	c.(367-369)tCa>tTa	p.S123L	PTPRF_ENST00000438120.1_Missense_Mutation_p.S123L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S123L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S123L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602000													12	19					0	0	0.013537	0	0
SDF4	51150	broad.mit.edu	37	1	1153867	1153867	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1153867C>T	ENST00000263741.7	-	6	1175	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SDF4_ENST00000360001.6_Missense_Mutation_p.D295N	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	295	EF-hand 5.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACGATGCCGTCGTGGTTGGAG	0.642000													12	30					0	0	0.001855	0	0
TM9SF3	56889	broad.mit.edu	37	10	98336574	98336574	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:98336574C>G	ENST00000371142.4	-	2	331	c.115G>C	c.(115-117)Gag>Cag	p.E39Q		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	39						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAACTTCCTCTTTATCTTGA	0.313000													24	62					0	0	0.003330	0	0
OR5M3	219482	broad.mit.edu	37	11	56237065	56237065	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56237065G>A	ENST00000312240.2	-	1	949	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATGATCTGCTGATCACTTTCA	0.343000													18	25					0	0	0.003330	0	0
CNNM2	54805	broad.mit.edu	37	10	104679815	104679815	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:104679815C>T	ENST00000369878.4	+	1	1766	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	CNNM2_ENST00000433628.2_Silent_p.F526F|CNNM2_ENST00000369875.3_Silent_p.F526F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTTTGTTTTCAATGACACCA	0.453000													51	122					0	0	0.014410	0	0
ZNF594	84622	broad.mit.edu	37	17	5086360	5086360	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5086360G>A	ENST00000399604.4	-	1	1332	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.H398Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCCTGTATGAGTTACCTGA	0.423000													263	89					0	0	0.014410	0	0
USP9Y	8287	broad.mit.edu	37	Y	14885574	14885574	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrY:14885574G>T	ENST00000338981.3	+	17	2991	c.2046G>T	c.(2044-2046)tgG>tgT	p.W682C	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	682					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACAAATATGGAAGTGCTTAG	0.393000													51	20					2.31418e-15	2.4374e-15	0.014410	1	0
CHD3	1107	broad.mit.edu	37	17	7792337	7792337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7792337G>A	ENST00000330494.7	+	1	169	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	CHD3_ENST00000380358.4_Intron|CHD3_ENST00000358181.4_Missense_Mutation_p.V7M	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	7					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCAGACACTGTGATCCTGTG	0.458000													50	17					0	0	0.014410	0	0
ILF3	3609	broad.mit.edu	37	19	10793285	10793285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793285G>A	ENST00000449870.1	+	13	1770	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ILF3_ENST00000420083.1_Missense_Mutation_p.E485K|ILF3_ENST00000318511.3_Missense_Mutation_p.E485K|ILF3_ENST00000589998.1_Missense_Mutation_p.E485K|ILF3_ENST00000407004.3_Missense_Mutation_p.E485K|ILF3_ENST00000590261.1_Missense_Mutation_p.E485K|ILF3_ENST00000588657.1_Missense_Mutation_p.E485K|ILF3_ENST00000250241.8_Missense_Mutation_p.E485K|ILF3_ENST00000592763.1_Missense_Mutation_p.E485K	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	485					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTCGGCTGAGGAGACCGAGGC	0.647000													10	19					0	0	0.008291	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388306	1388306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1388306G>A	ENST00000324803.4	+	1	2967	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	3					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			tcttatGCATGAGCCCTCGCT	0.517000													81	59					0	0	0.014410	0	0
ANO7	50636	broad.mit.edu	37	2	242163167	242163167	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242163167C>T	ENST00000274979.8	+	23	2768	c.2665C>T	c.(2665-2667)Ctg>Ttg	p.L889L		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	889						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGAGTACTACCTGGCTAAGCA	0.592000													13	21					0	0	0.001855	0	0
EPB42	2038	broad.mit.edu	37	15	43489643	43489643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43489643C>T	ENST00000300215.3	-	13	2480	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	EPB42_ENST00000563128.1_Intron|EPB42_ENST00000441366.2_Missense_Mutation_p.E645K|EPB42_ENST00000540029.1_Missense_Mutation_p.E567K			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	645					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGGTGTTTTCAGGCCACACT	0.498000													32	41					0	0	0.013726	0	0
SCAF8	22828	broad.mit.edu	37	6	155143463	155143463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155143463C>T	ENST00000367178.3	+	16	2422	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q682*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q616*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	616					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGACAACTCAGAGCCCAAC	0.448000													62	120					0	0	0.014410	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762320	92762320	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:92762320G>A	ENST00000318238.4	-	5	4181	c.2965C>T	c.(2965-2967)Cac>Tac	p.H989Y	SAMD9L_ENST00000437805.1_Missense_Mutation_p.H989Y|SAMD9L_ENST00000411955.1_Missense_Mutation_p.H989Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	989										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCAGAGGGTGAATGATACGC	0.358000													30	98					0	0	0.007291	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20781943	20781943	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20781943G>C	ENST00000398169.3	-	6	931	c.315C>G	c.(313-315)ctC>ctG	p.L105L	CCNB1IP1_ENST00000398163.2_Silent_p.L105L|CCNB1IP1_ENST00000398160.2_Silent_p.L105L|CCNB1IP1_ENST00000358932.4_Silent_p.L105L|CCNB1IP1_ENST00000437553.2_Silent_p.L105L|CCNB1IP1_ENST00000353689.4_Silent_p.L105L			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	105						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ATTCTTGATAGAGACGTTCCT	0.338000			T	HMGA2	leiomyoma								11	37					0	0	0.010729	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16343359	16343359	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:16343359G>A	ENST00000475953.1	+	0	414				C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA	NR_027667.1																						CTGCTCTGATGAAATCACTAA	0.478000													33	21					0	0	0.004878	0	0
EPOR	2057	broad.mit.edu	37	19	11493835	11493835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11493835G>A	ENST00000592375.2	-	2	293	c.189C>T	c.(187-189)ttC>ttT	p.F63F	EPOR_ENST00000222139.6_Silent_p.F63F			P19235	EPOR_HUMAN	erythropoietin receptor	63						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTTCCTCCCAGAAACACACCA	0.682000													7	21					0	0	0.001984	0	0
CSRP3	8048	broad.mit.edu	37	11	19204293	19204293	+	Splice_Site	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:19204293A>T	ENST00000533783.1	-	7	749	c.509T>A	c.(508-510)gTt>gAt	p.V170D	CSRP3_ENST00000265968.3_Splice_Site_p.V170D	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	170	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						GGCATAGCAAACTGTGAATGA	0.428000													24	65					0	0	0.003330	0	0
SLC17A6	57084	broad.mit.edu	37	11	22384329	22384329	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22384329C>T	ENST00000263160.3	+	6	1143	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	236					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGCTGGCATTCTTGTGCAGTA	0.383000													16	54					0	0	0.008871	0	0
ZNF646	9726	broad.mit.edu	37	16	31088003	31088003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31088003G>T	ENST00000394979.2	+	1	781	c.358G>T	c.(358-360)Gag>Tag	p.E120*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E120*			O15015	ZN646_HUMAN	zinc finger protein 646	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCTCCAGGGTGAGACGGTGTC	0.582000													20	17					1.33834e-09	1.39207e-09	0.007413	1	0
TEAD2	8463	broad.mit.edu	37	19	49846565	49846565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49846565C>T	ENST00000377214.4	-	9	1371	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	TEAD2_ENST00000601519.1_Missense_Mutation_p.E337K|TEAD2_ENST00000311227.2_Missense_Mutation_p.E334K|TEAD2_ENST00000593945.1_Missense_Mutation_p.E338K|TEAD2_ENST00000598810.1_Missense_Mutation_p.E338K|TEAD2_ENST00000539846.1_Missense_Mutation_p.E206K			Q15562	TEAD2_HUMAN	TEA domain family member 2	334	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCCAGGCTCTCATACTGGCTG	0.617000													19	51					0	0	0.002780	0	0
HERC2P2	400322	broad.mit.edu	37	15	23285536	23285536	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:23285536C>T	ENST00000560464.1	-	0	5097																											ACTTGGGCCTCGCCCCAGGAC	0.532000													5	7					0	0	0.001168	0	0
RORC	6097	broad.mit.edu	37	1	151785508	151785508	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151785508G>T	ENST00000356728.6	-	8	1291	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	RORC_ENST00000318247.6_Silent_p.I400I|RORC_ENST00000392697.3_Silent_p.I454I|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	400	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAAGTCAAAGATGGAGCTGA	0.537000													72	26					1.49723e-40	1.5947e-40	0.014410	1	0
EPS15L1	58513	broad.mit.edu	37	19	16535906	16535906	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:16535906G>A	ENST00000602009.1	-	3	1213	c.318C>T	c.(316-318)ctC>ctT	p.L106L	EPS15L1_ENST00000597937.1_Silent_p.L260L|EPS15L1_ENST00000455140.2_Silent_p.L260L|EPS15L1_ENST00000248070.6_Silent_p.L260L|EPS15L1_ENST00000594975.1_Silent_p.L260L|EPS15L1_ENST00000535753.2_Silent_p.L260L			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	260					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGTTTGCTTGAGGCTGTGCT	0.622000													16	60					0	0	0.004990	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503018	45503018	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503018G>C	ENST00000291574.4	+	14	2248	c.2073G>C	c.(2071-2073)acG>acC	p.T691T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	691					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTTGAACACGACTGGGATTA	0.547000													26	72					0	0	0.003330	0	0
FRMD4A	55691	broad.mit.edu	37	10	13708121	13708121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:13708121G>A	ENST00000357447.2	-	18	1947	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	FRMD4A_ENST00000358621.4_Nonsense_Mutation_p.Q512*|FRMD4A_ENST00000378503.1_Nonsense_Mutation_p.Q527*	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	527						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGCCCTCTGGGTGGGTTTC	0.567000													116	109					0	0	0.014410	0	0
NUDT10	170685	broad.mit.edu	37	X	51075817	51075817	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:51075817G>A	ENST00000376006.3	+	0	220				NUDT10_ENST00000356450.2_De_novo_Start_InFrame	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					CTGCCTCGAGGATGAAGTGCA	0.687000													6	2					0	0	0.003080	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519909	62519909	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62519909C>A	ENST00000394807.3	-	2	1503	c.1378G>T	c.(1378-1380)Gct>Tct	p.A460S		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTTCCTGGAGCTGCTTCGTAC	0.552000													34	60					7.11191e-15	7.47609e-15	0.013726	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88958054	88958054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:88958054G>A	ENST00000375961.2	-	6	1236	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S341L|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S341L			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	341					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCTACAGGATGACCCATATAA	0.303000													30	88					0	0	0.006320	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767810	205767810	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:205767810G>A	ENST00000367137.3	-	6	1845	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	277						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTTCCAGGTAGAGTCCCCAGC	0.557000													19	87					0	0	0.007413	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:41266101C>T	ENST00000349496.5	+	3	378	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				7	31					0	0	0.001984	0	0
RNF13	11342	broad.mit.edu	37	3	149678727	149678727	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:149678727G>A	ENST00000344229.3	+	11	1684	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	RNF13_ENST00000361785.6_Missense_Mutation_p.E209K|RNF13_ENST00000392894.3_Missense_Mutation_p.E328K	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	328					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTTTATCGGAATCCCGCTC	0.413000													23	59					0	0	0.012319	0	0
FUK	197258	broad.mit.edu	37	16	70504931	70504931	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70504931G>A	ENST00000288078.6	+	12	1358	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	FUK_ENST00000378912.2_Missense_Mutation_p.V408I|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	376						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGGGCCCTGTCCAGCTGGG	0.682000													4	3					0	0	0.000602	0	0
GABRG1	2565	broad.mit.edu	37	4	46053535	46053535	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:46053535G>A	ENST00000295452.4	-	8	1204	c.1037C>T	c.(1036-1038)gCa>gTa	p.A346V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	346					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATCAAGGCTGCAAAAACAAA	0.373000													16	43					0	0	0.003163	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16053943	16053943	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16053943C>T	ENST00000375799.3	+	9	1603	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S439L	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	459					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGGGCTTTCAGCCCCAATG	0.632000													4	12					0	0	0.009096	0	0
PROSC	11212	broad.mit.edu	37	8	37632915	37632915	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:37632915G>C	ENST00000328195.3	+	6	580	c.513G>C	c.(511-513)aaG>aaC	p.K171N		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	171							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TAAACGCCAAGTGTCCTAACC	0.488000													48	76					0	0	0.014410	0	0
FGD1	2245	broad.mit.edu	37	X	54473866	54473866	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:54473866C>T	ENST00000375135.3	-	17	3191	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	820					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						ACGCTGTTCTCTGCAGCCACT	0.542000													18	3					0	0	0.007413	0	0
SLC6A9	6536	broad.mit.edu	37	1	44477385	44477385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:44477385G>A	ENST00000360584.2	-	2	288	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	33						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGAACAGGGAGAAGCGTCACC	0.602000													14	48					0	0	0.002450	0	0
SUMF2	25870	broad.mit.edu	37	7	56141885	56141885	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:56141885C>T	ENST00000434526.2	+	4	446	c.415C>T	c.(415-417)Cca>Tca	p.P139S	SUMF2_ENST00000275607.9_Missense_Mutation_p.P32S|SUMF2_ENST00000342190.6_Missense_Mutation_p.P139S|SUMF2_ENST00000437307.2_Missense_Mutation_p.P120S|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000413756.1_Missense_Mutation_p.P120S	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	120						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTGGCTTCCAGTGGAAAA	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	164					0	0	0.011902	0	0
IGSF21	84966	broad.mit.edu	37	1	18661457	18661457	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:18661457G>T	ENST00000251296.1	+	4	760	c.377G>T	c.(376-378)aGg>aTg	p.R126M		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	126	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCGCCACCAGGGAGAAGGTG	0.617000													9	22					7.48243e-07	7.6946e-07	0.006214	1	0
ADAM17	6868	broad.mit.edu	37	2	9695720	9695720	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:9695720G>A	ENST00000310823.3	-	1	197	c.15C>T	c.(13-15)ctC>ctT	p.L5L	ADAM17_ENST00000497134.1_Silent_p.L5L	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	5					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCAGGAATAGGAGAGACTGCC	0.647000											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0.009096	0	0
RHOH	399	broad.mit.edu	37	4	40245409	40245409	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40245409G>A	ENST00000381799.5	+	3	1127	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	RHOH_ENST00000505618.1_Missense_Mutation_p.E135K	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CAATGCCATGGAAGGGAAGAA	0.612000													15	41					0	0	0.004007	0	0
SVILP1	645954	broad.mit.edu	37	10	30984863	30984863	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:30984863C>T	ENST00000435645.1	+	0	151																											TCTTCCAACTCCAGCTTCTCA	0.458000													4	11					0	0	0.000602	0	0
AGBL2	79841	broad.mit.edu	37	11	47721019	47721019	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:47721019C>T	ENST00000525123.1	-	8	958	c.673G>A	c.(673-675)Gtt>Att	p.V225I	AGBL2_ENST00000298861.4_Missense_Mutation_p.V225I|AGBL2_ENST00000528244.1_Missense_Mutation_p.V187I|AGBL2_ENST00000357610.3_Missense_Mutation_p.V225I|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	225					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGATAGACAACTGTTCCTTTT	0.333000													21	74					0	0	0.014323	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47564903	47564903	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:47564903G>A	ENST00000334194.3	+	8	1017	c.1014G>A	c.(1012-1014)caG>caA	p.Q338Q	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	338						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AGCATCAGCAGAGATGCCGAG	0.453000													24	60					0	0	0.003330	0	0
SEPT1	1731	broad.mit.edu	37	16	30390351	30390351	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:30390351C>T	ENST00000321367.3	-	10	1100	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	SEPT1_ENST00000571393.1_Missense_Mutation_p.R305Q|SEPT1_ENST00000605106.1_Missense_Mutation_p.R310Q	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	305					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GCGGCTGGCTCGATCGCGAGC	0.682000													8	4					0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21233209	21233209	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:21233209A>G	ENST00000233242.1	-	26	6658	c.6531T>C	c.(6529-6531)taT>taC	p.Y2177Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2177	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTGTATCATATATGTCTGCA	0.234000													50	31					0	0	0.014410	0	0
CITED2	10370	broad.mit.edu	37	6	139694349	139694349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:139694349C>T	ENST00000367651.2	-	2	948	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	CITED2_ENST00000537332.1_Missense_Mutation_p.E245K|CITED2_ENST00000536159.1_Missense_Mutation_p.E245K	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	245	Asp/Glu-rich (acidic).				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		AGCCAGAGTTCGGGCAGCTCC	0.512000													36	121					0	0	0.003755	0	0
SPAG17	200162	broad.mit.edu	37	1	118624072	118624072	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:118624072C>T	ENST00000336338.5	-	14	2021	c.1956G>A	c.(1954-1956)atG>atA	p.M652I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	652						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATTCATTTTCATGACATATT	0.408000													32	107					0	0	0.012213	0	0
BZRAP1-AS1	100506779	broad.mit.edu	37	17	56408633	56408633	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56408633C>T	ENST00000579527.1	+	0	351				BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|MIR142_ENST00000384835.1_RNA|MIR142_ENST00000579003.1_RNA																							ACTACACCCTCCAGTGCTGTT	0.577000													19	15					0	0	0.008871	0	0
UGGT1	56886	broad.mit.edu	37	2	128867254	128867254	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:128867254C>T	ENST00000375990.3	+	5	786	c.383C>T	c.(382-384)tCa>tTa	p.S128L	UGGT1_ENST00000259253.6_Missense_Mutation_p.S152L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	152					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.S152L(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGTTTTTTTCAGTGCATGGA	0.378000													51	77					0	0	0.014410	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431478	140431478	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140431478G>A	ENST00000306549.3	+	1	500	c.423G>A	c.(421-423)aaG>aaA	p.K141K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		141	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K141N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTTTTAAAGATTCCGGAGA	0.547000													8	41					0	0	0.003080	0	0
HCCS	3052	broad.mit.edu	37	X	11130276	11130276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:11130276G>A	ENST00000321143.4	+	2	298	c.96G>A	c.(94-96)atG>atA	p.M32I	HCCS_ENST00000380763.3_Missense_Mutation_p.M32I|HCCS_ENST00000380762.4_Missense_Mutation_p.M32I	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	32					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						AAGGGAAAATGAAAGGTAATC	0.522000													13	22					0	0	0.001855	0	0
ALDH1A1	216	broad.mit.edu	37	9	75567869	75567869	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:75567869C>T	ENST00000297785.3	-	1	102	c.48G>A	c.(46-48)ttG>ttA	p.L16L	ALDH1A1_ENST00000376939.1_Silent_p.L16L|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	16					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTGAATCTTCAAATCGGTGA	0.403000													23	44					0	0	0.003954	0	0
TBCC	6903	broad.mit.edu	37	6	42713401	42713401	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:42713401G>A	ENST00000244625.2	-	2	974	c.411C>T	c.(409-411)ttC>ttT	p.F137F	TBCC_ENST00000372876.1_Silent_p.F137F			Q15814	TBCC_HUMAN	tubulin folding cofactor C	137					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TCTTGAAAGCGAAACGCTTCT	0.662000													6	41					0	0	0.001984	0	0
STK32A	202374	broad.mit.edu	37	5	146763487	146763487	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:146763487C>A	ENST00000397936.3	+	13	1465	c.1132C>A	c.(1132-1134)Cta>Ata	p.L378I	STK32A_ENST00000398523.3_Missense_Mutation_p.L378I	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	378							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCAAATCTAGCCTTGGA	0.338000													17	26					8.00594e-06	8.19808e-06	0.007413	1	0
B3GNT2	10678	broad.mit.edu	37	2	62449761	62449761	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:62449761G>C	ENST00000301998.4	+	2	658	c.406G>C	c.(406-408)Gat>Cat	p.D136H	B3GNT2_ENST00000405767.1_Missense_Mutation_p.D136H	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	136						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGATCAGCCGGATAAGTGTGC	0.463000													44	257					0	0	0.013114	0	0
MAN2A1	4124	broad.mit.edu	37	5	109202634	109202634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:109202634C>T	ENST00000261483.4	+	22	4422	c.3370C>T	c.(3370-3372)Cag>Tag	p.Q1124*		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1124					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TCCCGGCACTCAGAATATAAG	0.388000													33	77					0	0	0.010818	0	0
WEE1	7465	broad.mit.edu	37	11	9598771	9598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9598771G>A	ENST00000299613.6	+	5	1215	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	WEE1_ENST00000450114.2_Missense_Mutation_p.E368K	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	368					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCGTGGGCAGAAGATGATCA	0.373000													24	138					0	0	0.003954	0	0
HLX	3142	broad.mit.edu	37	1	221057702	221057702	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221057702G>A	ENST00000366903.6	+	4	2624	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	HLX_ENST00000549319.1_Missense_Mutation_p.E161K	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	375	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGGCGAGGCTGAGAGCGAGAG	0.632000													11	13					0	0	0.004007	0	0
NACA	4666	broad.mit.edu	37	12	57111049	57111049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57111049C>T	ENST00000454682.1	-	3	4546	c.4265G>A	c.(4264-4266)aGa>aAa	p.R1422K	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGCGCCTTCTCTGGTGACTGG	0.587000			T	BCL6	NHL								17	16					0	0	0.006122	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077285	45077285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:45077285G>A	ENST00000296130.4	+	3	658	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CLEC3B_ENST00000428034.1_Missense_Mutation_p.E118K|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	160	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGGAGACTGAGATCACCGC	0.662000													23	10					0	0	0.005443	0	0
ACSL5	51703	broad.mit.edu	37	10	114186017	114186017	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:114186017C>T	ENST00000393081.1	+	19	2046	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	ACSL5_ENST00000369410.3_Splice_Site_p.S362L|ACSL5_ENST00000356116.1_Splice_Site_p.S636L|ACSL5_ENST00000354273.4_Splice_Site_p.S580L|ACSL5_ENST00000433418.1_Splice_Site_p.S580L|ACSL5_ENST00000354655.4_Splice_Site_p.S580L	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	580					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTTCCATAGTCATCCTTAGTA	0.433000													29	81					0	0	0.008361	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028617	54028617	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:54028617G>A	ENST00000185150.4	+	7	740	c.609G>A	c.(607-609)caG>caA	p.Q203Q	ERLEC1_ENST00000378239.5_Silent_p.Q203Q|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Silent_p.Q203Q|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	203					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GTTTGAAACAGAACCGGCCCA	0.373000													47	88					0	0	0.014410	0	0
MXRA8	54587	broad.mit.edu	37	1	1290312	1290312	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1290312G>A	ENST00000477278.2	-	5	1185	c.672C>T	c.(670-672)gcC>gcT	p.A224A	MXRA8_ENST00000445648.2_Silent_p.A233A|MXRA8_ENST00000309212.6_Silent_p.A233A|MXRA8_ENST00000342753.4_Silent_p.A132A	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCCCGTAGGCGCGGCGCT	0.721000													4	8					0	0	0.000602	0	0
NSD1	64324	broad.mit.edu	37	5	176721473	176721473	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176721473C>G	ENST00000439151.2	+	23	7149	c.7104C>G	c.(7102-7104)gcC>gcG	p.A2368A	NSD1_ENST00000354179.4_Silent_p.A2099A|NSD1_ENST00000361032.4_Silent_p.A2265A|NSD1_ENST00000347982.4_Silent_p.A2099A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2368	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGGTGCTGCCAGCCCAAGGC	0.587000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			9	56					0	0	0.010729	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103593907	103593907	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:103593907C>T	ENST00000560869.1	+	3	1440	c.801C>T	c.(799-801)ttC>ttT	p.F267F	TNFAIP2_ENST00000333007.1_Silent_p.F267F			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	267					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TGGCGCAGTTCGAGCTGTGCG	0.701000													3	3					0	0	0.004672	0	0
PHTF1	10745	broad.mit.edu	37	1	114242367	114242367	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:114242367G>C	ENST00000369604.1	-	17	2584	c.2101C>G	c.(2101-2103)Cta>Gta	p.L701V	PHTF1_ENST00000369598.1_Missense_Mutation_p.L656V|PHTF1_ENST00000393357.2_Missense_Mutation_p.L701V|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.L648V|PHTF1_ENST00000369600.1_Missense_Mutation_p.L648V			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	701						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTTACTAGAGTAAGCTGT	0.284000													4	14					0	0	0.009096	0	0
RMND1	55005	broad.mit.edu	37	6	151754318	151754318	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:151754318C>A	ENST00000367303.4	-	4	783	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	RMND1_ENST00000336451.3_Missense_Mutation_p.G10C	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	221										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CCAGGATCACCTTCTTTTGCA	0.378000													13	58					0.00136819	0.00139056	0.013537	1	0
MUC3A	4584	broad.mit.edu	37	7	100552079	100552079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100552079C>T	ENST00000319509.7	+	1	830	c.830C>T	c.(829-831)tCc>tTc	p.S277F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AATGTGGGCTCCGCTTCTATC	0.473000													157	364					0	0	0.014410	0	0
MX1	4599	broad.mit.edu	37	21	42821118	42821118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:42821118G>A	ENST00000398600.2	+	16	2353	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	MX1_ENST00000288383.6_Missense_Mutation_p.R420K|MX1_ENST00000398598.3_Missense_Mutation_p.R443K|MX1_ENST00000455164.2_Missense_Mutation_p.R443K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	443					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TATCGTGGTAGAGAGCTGCCA	0.383000													20	81					0	0	0.012319	0	0
COL9A1	1297	broad.mit.edu	37	6	70966509	70966509	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:70966509C>T	ENST00000357250.6	-	21	1623	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	COL9A1_ENST00000370499.4_Missense_Mutation_p.D246N|COL9A1_ENST00000320755.7_Missense_Mutation_p.D246N|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	489	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTTCACCATCTAAGCCCCGA	0.383000													3	33					0	0	0.009096	0	0
PAN2	9924	broad.mit.edu	37	12	56720504	56720504	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720504C>T	ENST00000425394.2	-	7	1535	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	PAN2_ENST00000257931.5_Missense_Mutation_p.D387N|PAN2_ENST00000440411.3_Missense_Mutation_p.D387N|PAN2_ENST00000548043.1_Missense_Mutation_p.D387N	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	387					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGCTCCAGTCCAGAGGAGGC	0.587000													7	64					0	0	0.003080	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563376	156563376	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156563376G>A	ENST00000368233.3	+	5	720	c.693G>A	c.(691-693)ggG>ggA	p.G231G	APOA1BP_ENST00000368235.3_Intron|APOA1BP_ENST00000368234.3_Intron			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	228	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGGTGGGGGAGATTGGGGC	0.562000													50	19					0	0	0.014410	0	0
KRT3	3850	broad.mit.edu	37	12	53185189	53185189	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:53185189T>C	ENST00000417996.2	-	7	1410	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V	KRT3_ENST00000309505.3_Missense_Mutation_p.I446V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	446	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTCGGCAATGGCCGTCTGC	0.592000													32	42					0	0	0.003755	0	0
C8A	731	broad.mit.edu	37	1	57320598	57320598	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:57320598C>T	ENST00000361249.3	+	1	120	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	8					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.I8M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTTCTTCATCTTGTCTTTGA	0.433000													14	13					0	0	0.002450	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994364	91994364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:91994364G>A	ENST00000450295.1	-	16	2620	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S615L|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	615	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTCCTTCTGACAAGTTGAA	0.527000													302	175					0	0	0.014410	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169512	132169512	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:132169512C>T	ENST00000260818.6	+	6	606	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	120							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTATAAGCATCACTGGAGTGA	0.328000													60	41					0	0	0.014410	0	0
BLZF1	8548	broad.mit.edu	37	1	169351514	169351514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:169351514G>T	ENST00000367808.3	+	6	1435	c.1012G>T	c.(1012-1014)Gaa>Taa	p.E338*	BLZF1_ENST00000329281.2_Nonsense_Mutation_p.E338*			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	338					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAAATGGCTGAAACGGTAAA	0.363000													14	50					4.3838e-07	4.51451e-07	0.001855	1	0
DCTN2	10540	broad.mit.edu	37	12	57926780	57926780	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57926780C>T	ENST00000548249.1	-	9	1028	c.761G>A	c.(760-762)gGa>gAa	p.G254E	DCTN2_ENST00000543672.1_Missense_Mutation_p.G259E|DCTN2_ENST00000434715.3_Missense_Mutation_p.G259E|DCTN2_ENST00000537439.1_Missense_Mutation_p.G231E	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	254					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GAGACAGGCTCCCTGTAGACC	0.458000													8	17					0	0	0.003080	0	0
EMC1	23065	broad.mit.edu	37	1	19559255	19559255	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19559255C>G	ENST00000477853.1	-	15	1687	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E527Q|EMC1_ENST00000375199.3_Missense_Mutation_p.E548Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		GAGCTGCTCTCAATGCCAAAA	0.438000													38	131					0	0	0.006230	0	0
ZBTB49	166793	broad.mit.edu	37	4	4303908	4303908	+	Silent	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:4303908A>T	ENST00000337872.4	+	3	466	c.345A>T	c.(343-345)acA>acT	p.T115T	ZBTB49_ENST00000355834.3_Silent_p.T115T|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGTCACACATTTTTAAAAT	0.418000													47	143					0	0	0.013114	0	0
IL17F	112744	broad.mit.edu	37	6	52103570	52103570	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52103570G>C	ENST00000336123.4	-	2	319	c.212C>G	c.(211-213)tCa>tGa	p.S71*		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	71					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GATGTTACGTGACATGGAAAC	0.438000													11	48					0	0	0.010729	0	0
PIK3R1	5295	broad.mit.edu	37	5	67593263	67593263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:67593263G>A	ENST00000521381.1	+	16	2625	c.2009G>A	c.(2008-2010)tGt>tAt	p.C670Y	PIK3R1_ENST00000336483.5_Missense_Mutation_p.C400Y|PIK3R1_ENST00000396611.1_Missense_Mutation_p.C678Y|PIK3R1_ENST00000523872.1_Missense_Mutation_p.C307Y|PIK3R1_ENST00000521657.1_Missense_Mutation_p.C670Y|PIK3R1_ENST00000320694.8_Missense_Mutation_p.C370Y|PIK3R1_ENST00000274335.5_Missense_Mutation_p.C670Y	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	670	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTAAAGCATTGTGTCATAAAC	0.433000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			40	114					0	0	0.006230	0	0
GFPT1	2673	broad.mit.edu	37	2	69569358	69569358	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:69569358G>C	ENST00000357308.4	-	13	1307	c.1129C>G	c.(1129-1131)Cac>Gac	p.H377D	GFPT1_ENST00000361060.5_Missense_Mutation_p.H359D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	377	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCTTTATGTGATCCTTCAAA	0.358000													48	232					0	0	0.014410	0	0
NOL3	8996	broad.mit.edu	37	16	67208208	67208208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67208208G>A	ENST00000432069.2	+	4	708	c.136G>A	c.(136-138)Gag>Aag	p.E46K	NOL3_ENST00000564053.1_Missense_Mutation_p.E108K|NOL3_ENST00000268605.7_Missense_Mutation_p.E46K|NOL3_ENST00000568146.1_Missense_Mutation_p.E46K	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	46	CARD.				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCCAGAGTACGAGGCATTGGA	0.706000													4	8					0	0	0.009096	0	0
FCGR2B	2213	broad.mit.edu	37	1	161641408	161641408	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161641408C>T	ENST00000367962.4	+	3	487	c.360C>T	c.(358-360)ctC>ctT	p.L120L	FCGR2B_ENST00000428605.2_Silent_p.L120L|FCGR2B_ENST00000236937.9_Silent_p.L120L|FCGR2B_ENST00000358671.5_Silent_p.L120L|FCGR2B_ENST00000367960.5_Silent_p.L113L|FCGR2B_ENST00000403078.3_Silent_p.L120L|FCGR2B_ENST00000367961.4_Silent_p.L113L			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	120	Ig-like C2-type 1.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACCAGCCTCAGCGACCCTG	0.592000			T	?	ALL								11	54					0	0	0.013537	0	0
NLRP1	22861	broad.mit.edu	37	17	5418329	5418329	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5418329C>T	ENST00000345221.3	-	16	4589	c.4035G>A	c.(4033-4035)ctG>ctA	p.L1345L	NLRP1_ENST00000354411.3_Silent_p.L1359L|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000572272.1_Silent_p.L1389L|NLRP1_ENST00000269280.4_Silent_p.L1345L|NLRP1_ENST00000577119.1_Silent_p.L1315L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1389					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCGGGCTATCAGCTGCTCTC	0.577000													20	19					0	0	0.007413	0	0
VWA9	81556	broad.mit.edu	37	15	65890802	65890802	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65890802C>T	ENST00000395644.4	-	6	941		c.e6-1		VWA9_ENST00000313182.2_Splice_Site|VWA9_ENST00000420799.2_Splice_Site|VWA9_ENST00000567744.1_Splice_Site|VWA9_ENST00000431261.2_Splice_Site|VWA9_ENST00000442903.3_Splice_Site|VWA9_ENST00000569491.1_Splice_Site					von Willebrand factor A domain containing 9																		TATCAGTTTTCTAGAATATGA	0.378000													10	35					0	0	0.006214	0	0
BDH1	622	broad.mit.edu	37	3	197238892	197238892	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:197238892G>A	ENST00000392379.1	-	8	1307	c.906C>T	c.(904-906)gtC>gtT	p.V302V	BDH1_ENST00000441275.1_Silent_p.V215V|BDH1_ENST00000392378.2_Silent_p.V302V|BDH1_ENST00000358186.2_Silent_p.V302V	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	302					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GGGCGTGTGTGACAGCATCGA	0.572000													24	72					0	0	0.003954	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368410	26368410	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26368410G>C	ENST00000527422.1	+	3	198		c.e3-1		BTN3A2_ENST00000396948.1_5'UTR|BTN3A2_ENST00000396934.3_Intron|BTN3A2_ENST00000356386.2_5'UTR|BTN3A2_ENST00000508906.2_Intron|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_5'UTR			P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						ATGCAGCATAGATGAAAATGG	0.493000													36	57					0	0	0.011902	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217568	26217568	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26217568G>A	ENST00000303910.2	+	1	404	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542000													8	21					0	0	0.010729	0	0
IGSF8	93185	broad.mit.edu	37	1	160063790	160063790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160063790G>T	ENST00000368086.1	-	3	830	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.S205Y			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	205	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCGGGCACAGATCGCCCAAA	0.627000													42	63					4.45467e-35	4.73771e-35	0.011902	1	0
DNAJC16	23341	broad.mit.edu	37	1	15874821	15874821	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:15874821G>C	ENST00000375847.3	+	7	1085	c.921G>C	c.(919-921)ttG>ttC	p.L307F	DNAJC16_ENST00000375838.1_Missense_Mutation_p.L307F|DNAJC16_ENST00000375849.1_Missense_Mutation_p.L307F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	307					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGTGGGTTTGAGAGGGACGG	0.398000													35	72					0	0	0.003271	0	0
ARID5B	84159	broad.mit.edu	37	10	63700148	63700148	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:63700148C>T	ENST00000279873.7	+	3	893	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	161					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACGTTCTCAAGGAGAAGG	0.418000													18	15					0	0	0.007413	0	0
RNF10	9921	broad.mit.edu	37	12	120995412	120995412	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120995412G>A	ENST00000325954.4	+	6	1355	c.894G>A	c.(892-894)aaG>aaA	p.K298K	RNF10_ENST00000413266.2_Silent_p.K298K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	298					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGATGAAGAGGGAGAAAG	0.448000													37	190					0	0	0.004878	0	0
KCTD4	386618	broad.mit.edu	37	13	45768414	45768414	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:45768414C>T	ENST00000405872.1	-	2	692	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	KCTD4_ENST00000379108.1_Missense_Mutation_p.E97K|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	97	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		AATAGAAGTTCTCCATTTCGT	0.443000													86	127					0	0	0.014410	0	0
SRP68	6730	broad.mit.edu	37	17	74053483	74053483	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:74053483C>T	ENST00000307877.2	-	8	1140		c.e8+1		SRP68_ENST00000539137.1_Splice_Site|SRP68_ENST00000355113.5_Splice_Site	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa						response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCCTCCTCACCTGGACAATA	0.448000													20	43					0	0	0.010504	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039256	89039256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:89039256G>C	ENST00000251038.5	+	6	991	c.766G>C	c.(766-768)Gaa>Caa	p.E256Q	ZC3H14_ENST00000557607.1_Missense_Mutation_p.E101Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E256Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E256Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E256Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E256Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E222Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E222Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	256						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGGGTATATGAAACAGGACG	0.408000													39	102					0	0	0.004289	0	0
SPEG	10290	broad.mit.edu	37	2	220309694	220309694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:220309694C>T	ENST00000312358.7	+	3	758	c.626C>T	c.(625-627)cCg>cTg	p.P209L	SPEG_ENST00000396698.1_Missense_Mutation_p.P105L|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	209					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCCGCCTCCCGGGCAGCCCA	0.716000													5	12					0	0	0.001168	0	0
IMPDH2	3615	broad.mit.edu	37	3	49062461	49062461	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49062461G>C	ENST00000326739.4	-	11	1202	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	388	IMP binding.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AGCCAGGAGAGAGCCCATCAT	0.577000													12	63					0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113518955	113518955	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:113518955G>A	ENST00000297405.5	-	29	5104	c.4860C>T	c.(4858-4860)gtC>gtT	p.V1620V	CSMD3_ENST00000455883.2_Silent_p.V1516V|CSMD3_ENST00000343508.3_Silent_p.V1580V|CSMD3_ENST00000352409.3_Silent_p.V1620V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1620	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCTGCATTGACGGTGATAG	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	124					0	0	0.004656	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788029	140788029	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140788029A>C	ENST00000520790.1	+	1	260	c.260A>C	c.(259-261)aAg>aCg	p.K87T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTTGTGAAGAACCGAATA	0.488000													28	78					0	0	0.006320	0	0
STK10	6793	broad.mit.edu	37	5	171517361	171517361	+	Silent	SNP	C	C	T	rs148086376		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:171517361C>T	ENST00000176763.5	-	10	1903	c.1560G>A	c.(1558-1560)ccG>ccA	p.P520P		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	520			P -> L (in dbSNP:rs17074311).				ATP binding|protein serine/threonine kinase activity	p.P520P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACAGTTTCGGGTCCTGGC	0.532000													44	129					0	0	0.014410	0	0
PGAM5	192111	broad.mit.edu	37	12	133294683	133294683	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133294683C>T	ENST00000498926.2	+	5	754	c.696C>T	c.(694-696)aaC>aaT	p.N232N	PGAM5_ENST00000317555.2_Silent_p.N232N|PGAM5_ENST00000541034.1_3'UTR|PGAM5_ENST00000454808.2_Silent_p.N83N|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000543955.1_Silent_p.N83N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	232						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GTCACGCCAACGTCATCCGCT	0.562000													10	53					0	0	0.008291	0	0
TLE1	7088	broad.mit.edu	37	9	84202699	84202699	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:84202699G>C	ENST00000376499.3	-	17	2938	c.1874C>G	c.(1873-1875)tCt>tGt	p.S625C		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	625					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCATCATTAGAAATGTCAAT	0.532000													47	23					0	0	0.013114	0	0
TMEM120A	83862	broad.mit.edu	37	7	75617097	75617097	+	RNA	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:75617097C>G	ENST00000493111.2	-	0	722				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GGCAGCCGCTCTGGTAGTAGT	0.687000													3	8					0	0	0.009096	0	0
CCDC89	220388	broad.mit.edu	37	11	85396454	85396454	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:85396454G>A	ENST00000316398.3	-	1	866	c.720C>T	c.(718-720)caC>caT	p.H240H		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	240						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTGCTGGTGCTGCTGCT	0.617000													19	107					0	0	0.014323	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128936684	128936684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128936684C>T	ENST00000310343.9	-	6	568	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.R116Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	190	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R190Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGAAAATCTTCGGTCATAAAT	0.368000													20	28					0	0	0.007413	0	0
GRK7	131890	broad.mit.edu	37	3	141526645	141526645	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141526645G>A	ENST00000264952.2	+	3	1346	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	403	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGAGGATCTGAAGCAAAGAA	0.433000													10	80					0	0	0.008291	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388949	56388949	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56388949A>C	ENST00000355701.3	-	18	3934	c.3064T>G	c.(3064-3066)Tac>Gac	p.Y1022D	BZRAP1_ENST00000268893.6_Missense_Mutation_p.Y962D|BZRAP1_ENST00000343736.4_Missense_Mutation_p.Y1022D	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1022	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCAGCGTAGATGGCATAG	0.602000													15	41					0	0	0.002450	0	0
MMP17	4326	broad.mit.edu	37	12	132322757	132322757	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:132322757C>T	ENST00000360564.1	+	2	279	c.177C>T	c.(175-177)ttC>ttT	p.F59F	MMP17_ENST00000535291.1_5'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	59					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		TAAGCAGGTTCGGTTACCTGC	0.642000													18	19					0	0	0.010504	0	0
DEFA5	1670	broad.mit.edu	37	8	6914118	6914118	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:6914118C>T	ENST00000330590.2	-	1	138	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	34					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTTCCCCAGACTGCTTCTGGG	0.537000													33	25					0	0	0.012213	0	0
CHD5	26038	broad.mit.edu	37	1	6195343	6195343	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6195343G>A	ENST00000262450.3	-	18	2916	c.2817C>T	c.(2815-2817)aaC>aaT	p.N939N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	939					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCCGGCATGTTCTTGAACA	0.597000													27	83					0	0	0.005443	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269163	16269163	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16269163C>T	ENST00000375733.2	-	14	2137	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	ZBTB17_ENST00000537142.1_Silent_p.V551V|ZBTB17_ENST00000375743.4_Silent_p.V633V			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	633					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCACGGTCTTCACGTGGGAGC	0.592000													32	29					0	0	0.013726	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016428	43016428	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43016428C>T	ENST00000452075.3	-	0	1166					NR_026777.1																						GGTCTTCATTCAGCCAGAAGC	0.358000													24	153					0	0	0.014323	0	0
CDK3	1018	broad.mit.edu	37	17	73998610	73998610	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:73998610C>T	ENST00000425876.2	+	5	593	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R169C			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	169	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						ACTGTGGTATCGCGCCCCCGA	0.542000													14	27					0	0	0.002450	0	0
ZMYND8	23613	broad.mit.edu	37	20	45976605	45976605	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:45976605G>A	ENST00000311275.7	-	2	273	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ZMYND8_ENST00000458360.2_Missense_Mutation_p.S27F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S7F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S27F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S27F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S27F|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S27F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S32F|ZMYND8_ENST00000355972.4_Missense_Mutation_p.S7F|ZMYND8_ENST00000446994.2_Missense_Mutation_p.S7F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S27F|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S34F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S27F	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	7							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCACCTTTGGAGCGAGTAGA	0.393000													56	97					0	0	0.014410	0	0
TRA2B	6434	broad.mit.edu	37	3	185643391	185643391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:185643391C>T	ENST00000453386.2	-	3	469	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	65	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.R65Q(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAATGCCTTCGGGAGCTTCT	0.463000													16	47					0	0	0.003163	0	0
SCAF8	22828	broad.mit.edu	37	6	155129288	155129288	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:155129288C>T	ENST00000367178.3	+	10	1642	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	SCAF8_ENST00000367186.4_Missense_Mutation_p.L422F|SCAF8_ENST00000417268.1_Missense_Mutation_p.L356F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	356	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCAGCATTTTCTTGAACCTGA	0.388000													25	98					0	0	0.003954	0	0
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:30949385C>G	ENST00000399914.1	-	13	2505	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.E677Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E677Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E662Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E662Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E677Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E679Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E679Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E677Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	677					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448000													24	105					0	0	0.002780	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585443	43585443	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43585443G>A	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							ATGTGTTTTTGCAGGAGGCCT	0.557000													5	30					0	0	0.004482	0	0
SNX19	399979	broad.mit.edu	37	11	130785628	130785628	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:130785628G>A	ENST00000265909.4	-	1	776	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000528555.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	69					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.L69L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCACTCCAGCGAGGCTGGAGC	0.602000													14	30					0	0	0.004007	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747724	68747724	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68747724G>A	ENST00000309106.3	-	1	731	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	244						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCAACCAGTAGAGCACAAACC	0.612000													32	40					0	0	0.008361	0	0
POLRMT	5442	broad.mit.edu	37	19	622259	622259	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:622259C>T	ENST00000588649.2	-	9	1825	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	581					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCATCTCCGCCAGCAGC	0.672000													2	0					0	0	0.009096	0	0
SAMD9	54809	broad.mit.edu	37	7	92733661	92733661	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:92733661G>T	ENST00000379958.2	-	3	2019	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	584						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCCATCCCTGAAATATGTGT	0.388000													5	141					0.000602214	0.000613492	0.000602	1	0
MYH15	22989	broad.mit.edu	37	3	108218327	108218327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108218327G>A	ENST00000273353.3	-	6	615	c.559C>T	c.(559-561)Cga>Tga	p.R187*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	187	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGATTTTCTCGATCTACAAAA	0.318000													29	38					0	0	0.008361	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65812872	65812872	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65812872G>A	ENST00000312006.4	-	2	296	c.15C>T	c.(13-15)ctC>ctT	p.L5L	GAL3ST3_ENST00000527878.1_Silent_p.L5L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	5					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCAGGCGCTGGAGGATGGGTG	0.647000											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	36					0	0	0.000602	0	0
TMEM261	90871	broad.mit.edu	37	9	7799696	7799696	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:7799696G>A	ENST00000358227.4	-	1	371	c.39C>T	c.(37-39)atC>atT	p.I13I	TMEM261_ENST00000484082.1_Intron	NM_033428.1	NP_219500.1			transmembrane protein 261	13																	GAGGCGCAGTGATATAGGACT	0.637000													21	7					0	0	0.008871	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190619038	190619038	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:190619038C>T	ENST00000519810.1	-	5	985	c.643G>A	c.(643-645)Gag>Aag	p.E215K	OSGEPL1_ENST00000522700.1_Missense_Mutation_p.E215K|OSGEPL1_ENST00000264151.5_Missense_Mutation_p.E215K			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	215					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GTGGAGCACTCTGGATGTTTT	0.348000													8	27					0	0	0.003080	0	0
NAA15	80155	broad.mit.edu	37	4	140291390	140291390	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:140291390G>C	ENST00000296543.5	+	15	2102	c.1779G>C	c.(1777-1779)aaG>aaC	p.K593N	NAA15_ENST00000398947.1_Missense_Mutation_p.K593N	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	593					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AAGAGCTAAAGAAGCTACGTA	0.303000													18	2					0	0	0.010504	0	0
SARS	6301	broad.mit.edu	37	1	109756738	109756738	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:109756738G>C	ENST00000369923.4	+	1	135	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	SARS_ENST00000234677.2_Missense_Mutation_p.E42Q			P49591	SYSC_HUMAN	seryl-tRNA synthetase	42					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCAGACAGCGAGTGGCGACG	0.587000													6	21					0	0	0.003080	0	0
CHCHD6	84303	broad.mit.edu	37	3	126676358	126676358	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126676358C>T	ENST00000508789.1	+	7	741	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CHCHD6_ENST00000290913.3_Silent_p.V222V			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	222	CHCH.									endometrium(2)|large_intestine(3)|lung(3)	8						CGGACCTGGTCAAGGCATACC	0.647000													6	4					0	0	0.001168	0	0
MAP7D1	55700	broad.mit.edu	37	1	36643602	36643602	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:36643602C>A	ENST00000316156.4	+	8	1850	c.1397C>A	c.(1396-1398)tCc>tAc	p.S466Y	MAP7D1_ENST00000373151.2_Missense_Mutation_p.S503Y|MAP7D1_ENST00000373150.4_Missense_Mutation_p.S471Y|MAP7D1_ENST00000373148.4_Missense_Mutation_p.S49Y			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	503						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACCACTGCATCCCCCAAGGGG	0.701000													5	22					0.00116845	0.00118866	0.001168	1	0
SYT15	83849	broad.mit.edu	37	10	46963894	46963894	+	Missense_Mutation	SNP	C	C	T	rs2484844		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:46963894C>T	ENST00000374323.4	-	6	1815	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	SYT15_ENST00000503753.1_Missense_Mutation_p.E357K|SYT15_ENST00000374325.3_Missense_Mutation_p.E357K|SYT15_ENST00000374321.4_Missense_Mutation_p.E357K|RP11-38L15.3_ENST00000506914.1_RNA			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTATCCAGCTCGGTGGCATCG	0.567000													5	96					0	0	0.000602	0	0
GPR137	56834	broad.mit.edu	37	11	64054074	64054074	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64054074G>A	ENST00000539851.1	+	2	545	c.78G>A	c.(76-78)ctG>ctA	p.L26L	GPR137_ENST00000377702.4_Silent_p.L26L|GPR137_ENST00000313074.3_Silent_p.L26L|GPR137_ENST00000438980.2_Silent_p.L26L|GPR137_ENST00000411458.1_Silent_p.L84L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	26						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCCTGGGGCTGACAGCTGCCT	0.617000													29	87					0	0	0.009535	0	0
KCTD12	115207	broad.mit.edu	37	13	77459558	77459558	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:77459558C>T	ENST00000377474.2	-	1	967	c.726G>A	c.(724-726)acG>acA	p.T242T	KCTD12_ENST00000317765.2_Silent_p.T242T	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	242						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TGGCCAGCGACGTCTTTCCGC	0.647000											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	2					0	0	0.004482	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542207	40542207	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40542207G>A	ENST00000434248.1	-	5	624	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H39Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCTCCAGTATGAATACTCTGA	0.348000													14	102					0	0	0.002450	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127788	117127788	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:117127788A>C	ENST00000310357.3	-	3	1101	c.1080T>G	c.(1078-1080)caT>caG	p.H360Q	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H360Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	360					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGCAGATAAATGCATGGCAT	0.398000													26	101					0	0	0.003954	0	0
TTC7B	145567	broad.mit.edu	37	14	91196427	91196427	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91196427G>A	ENST00000357056.2	-	5	811	c.690C>T	c.(688-690)ttC>ttT	p.F230F	TTC7B_ENST00000328459.6_Silent_p.F230F			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	230							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACCCATTTTTGAAATAGAGGA	0.388000													51	127					0	0	0.014410	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441574	37441574	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:37441574C>T	ENST00000307750.4	-	2	1163	c.975G>A	c.(973-975)atG>atA	p.M325I		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		CCACCACTCTCATGTGCTCCT	0.507000													28	169					0	0	0.009535	0	0
PIGF	5281	broad.mit.edu	37	2	46815245	46815245	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:46815245C>G	ENST00000306465.4	-	6	722	c.620G>C	c.(619-621)tGa>tCa	p.*207S	PIGF_ENST00000281382.6_Intron	NM_173074.2	NP_775097.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	0					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ttaagttactcatttcacagt	0.418000													12	36					0	0	0.013537	0	0
CPA6	57094	broad.mit.edu	37	8	68421789	68421789	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:68421789C>T	ENST00000297770.4	-	5	712	c.497G>A	c.(496-498)gGa>gAa	p.G166E	CPA6_ENST00000518549.1_Missense_Mutation_p.G166E|CPA6_ENST00000297769.4_Missense_Mutation_p.G18E	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	166					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATATGATCTTCCAATAGAGAA	0.299000													29	147					0	0	0.010818	0	0
PDS5A	23244	broad.mit.edu	37	4	39978093	39978093	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39978093C>T	ENST00000303538.8	-	2	644	c.105G>A	c.(103-105)aaG>aaA	p.K35K	PDS5A_ENST00000503396.1_Silent_p.K35K	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	35					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCGTGGTGATCTTGTCGGTGA	0.557000											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	84					0	0	0.014410	0	0
OR7A17	26333	broad.mit.edu	37	19	14991344	14991344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14991344G>A	ENST00000327462.2	-	1	920	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTACATCACTGAGGCTGTTGC	0.473000													27	74					0	0	0.005443	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832553	24832553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:24832553G>A	ENST00000376451.2	+	14	3663	c.3403G>A	c.(3403-3405)Gac>Aac	p.D1135N	KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1452N|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1452					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGAGCCCATGGACATCCGGTC	0.458000													44	46					0	0	0.013114	0	0
MNAT1	4331	broad.mit.edu	37	14	61285476	61285476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:61285476C>T	ENST00000261245.4	+	6	699	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	200				Missing (in Ref. 3; AAB05248).	cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GCTTTTGGCTCAGCATAAAGA	0.368000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					21	66					0	0	0.010504	0	0
PRPF31	26121	broad.mit.edu	37	19	54628017	54628017	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:54628017C>T	ENST00000321030.4	+	8	1186	c.837C>T	c.(835-837)atC>atT	p.I279I	AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Silent_p.I279I|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.I279I	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	279	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	p.I279I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGTGACATCGTGCAGTCCC	0.672000													7	64					0	0	0.001984	0	0
AKR1C1	1645	broad.mit.edu	37	10	5009208	5009208	+	Silent	SNP	C	C	T	rs138894545	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:5009208C>T	ENST00000380872.4	+	3	534	c.342C>T	c.(340-342)taC>taT	p.Y114Y	AKR1C1_ENST00000380859.1_Silent_p.Y116Y|AKR1C1_ENST00000434459.2_Silent_p.Y114Y|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TTGACCTCTACCTTATTCATT	0.383000													5	191					0	0	0.012319	0	0
GRIA3	2892	broad.mit.edu	37	X	122598816	122598816	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:122598816G>A	ENST00000264357.5	+	13	2469	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q	GRIA3_ENST00000542149.1_Missense_Mutation_p.R726Q|GRIA3_ENST00000371251.1_Missense_Mutation_p.R726Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R726Q	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	726					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GCCCGAGTGCGAAAGTCCAAG	0.458000													24	13					0	0	0.004656	0	0
PTGER3	5733	broad.mit.edu	37	1	71512801	71512801	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:71512801C>T	ENST00000370924.4	-	1	690	c.460G>A	c.(460-462)Gag>Aag	p.E154K	PTGER3_ENST00000306666.5_Missense_Mutation_p.E154K|PTGER3_ENST00000354608.5_Missense_Mutation_p.E154K|PTGER3_ENST00000460330.1_Missense_Mutation_p.E154K|PTGER3_ENST00000351052.5_Missense_Mutation_p.E154K|PTGER3_ENST00000370931.3_Missense_Mutation_p.E154K|PTGER3_ENST00000414819.1_Missense_Mutation_p.E154K|PTGER3_ENST00000356595.4_Missense_Mutation_p.E154K|PTGER3_ENST00000370932.2_Missense_Mutation_p.E154K	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	154					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AGCGCCCGCTCGACGGCCATG	0.677000													9	4					0	0	0.006214	0	0
ASCC2	84164	broad.mit.edu	37	22	30198101	30198101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:30198101C>T	ENST00000397771.2	-	15	1627	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ASCC2_ENST00000542393.1_Missense_Mutation_p.E408K|ASCC2_ENST00000307790.3_Missense_Mutation_p.E484K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	484	CUE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATGAAGCCCTCACCAAGGTCT	0.617000													5	33					0	0	0.001984	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308755	140308755	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140308755C>T	ENST00000253807.2	+	1	2278	c.2278C>T	c.(2278-2280)Ctg>Ttg	p.L760L	PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L760L|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCCTCTCTGGGACTTGG	0.463000													54	66					0	0	0.014410	0	0
ZNF623	9831	broad.mit.edu	37	8	144732386	144732386	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144732386G>C	ENST00000501748.2	+	1	433	c.344G>C	c.(343-345)aGa>aCa	p.R115T	ZNF623_ENST00000458270.2_Missense_Mutation_p.R75T|ZNF623_ENST00000526926.1_Missense_Mutation_p.R75T	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGCTTCAGAGAGAGCTCATA	0.478000													18	146					0	0	0.014323	0	0
GSS	2937	broad.mit.edu	37	20	33533875	33533875	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33533875G>A	ENST00000216951.2	-	3	254	c.156C>T	c.(154-156)ctC>ctT	p.L52L	GSS_ENST00000451957.2_Silent_p.L52L|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	52					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567000													25	133					0	0	0.005443	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279666	32279666	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:32279666C>G	ENST00000360482.2	-	2	1398	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.K423N|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.K423N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	423					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCTTCAGGTTCTTAGTGCCCT	0.622000													30	37					0	0	0.010818	0	0
TSKS	60385	broad.mit.edu	37	19	50243401	50243401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50243401C>T	ENST00000246801.3	-	10	1619	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	TSKS_ENST00000358830.3_Missense_Mutation_p.E313K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	513							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTCAGGGCCTCTGCCCTGACG	0.647000													17	72					0	0	0.008871	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660886	77660886	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77660886G>A	ENST00000296043.6	+	5	2513	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	520					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGGGAACCAGAATGGATCTG	0.532000													64	48					0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122658317	122658317	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:122658317C>T	ENST00000195173.4	-	5	732	c.429G>A	c.(427-429)agG>agA	p.R143R	SEMA5B_ENST00000357599.3_Splice_Site_p.R143R|SEMA5B_ENST00000451055.2_Splice_Site_p.R197R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	143	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGGTAGTTCCTGTGAAAAT	0.537000													7	36					0	0	0.001984	0	0
NCF4	4689	broad.mit.edu	37	22	37268449	37268449	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37268449C>G	ENST00000397147.4	+	7	793	c.609C>G	c.(607-609)atC>atG	p.I203M	NCF4_ENST00000248899.6_Missense_Mutation_p.I203M	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	203	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCAGTCGGATCAACAAAGACT	0.473000													26	62					0	0	0.005443	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20208066	20208066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20208066G>C	ENST00000361479.5	+	1	246	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E60Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	60	Chromo.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGATGTGTTCGAGGTGGAGAA	0.657000													3	5					0	0	0.004672	0	0
PRR25	388199	broad.mit.edu	37	16	863601	863601	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:863601C>G	ENST00000301698.1	+	3	949	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	317										large_intestine(1)|lung(1)|skin(1)	3						TGGCCGGCATCTGGAGACGTC	0.721000													3	4					0	0	0.004672	0	0
ZMYM5	9205	broad.mit.edu	37	13	20425496	20425496	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:20425496A>G	ENST00000337963.4	-	4	849	c.585T>C	c.(583-585)ccT>ccC	p.P195P	ZMYM5_ENST00000382905.4_Splice_Site_p.P195P|ZMYM5_ENST00000382907.4_Splice_Site_p.P195P	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	195						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTGCTTACCAGGACTATGAT	0.383000													20	78					0	0	0.007413	0	0
WNK2	65268	broad.mit.edu	37	9	96024958	96024958	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:96024958G>A	ENST00000297954.4	+	13	3367	c.3367G>A	c.(3367-3369)Gcc>Acc	p.A1123T	WNK2_ENST00000395477.2_Missense_Mutation_p.A1123T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A735T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A735T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1123					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGGAGCAGGCCTCACAGGA	0.637000													6	29					0	0	0.001984	0	0
PDE4A	5141	broad.mit.edu	37	19	10571772	10571772	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10571772C>T	ENST00000380702.2	+	12	1392	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	PDE4A_ENST00000293683.5_Silent_p.I460I|PDE4A_ENST00000344979.3_Silent_p.I247I|PDE4A_ENST00000352831.6_Silent_p.I486I|PDE4A_ENST00000440014.2_Silent_p.I425I|PDE4A_ENST00000592685.1_Silent_p.I464I			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	486	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGTTCCTCATCAACACCAGTG	0.647000													6	32					0	0	0.001168	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510791	102510791	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:102510791G>A	ENST00000360184.4	+	71	13029	c.12865G>A	c.(12865-12867)Gac>Aac	p.D4289N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4289					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCAAGGTCGACGGACATAA	0.527000													11	28					0	0	0.008291	0	0
CBX8	57332	broad.mit.edu	37	17	77770064	77770064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:77770064G>A	ENST00000269385.4	-	3	281	c.164C>T	c.(163-165)gCa>gTa	p.A55V	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	55	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCAAAGGCTGCGAGCAAGCG	0.532000													118	106					0	0	0.014410	0	0
INPP5A	3632	broad.mit.edu	37	10	134511403	134511403	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134511403C>T	ENST00000368594.3	+	6	731	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.P152S	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	152				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGAGAAGTTTCCGCAGGACTA	0.498000													10	34					0	0	0.010729	0	0
MCAM	4162	broad.mit.edu	37	11	119181552	119181552	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119181552G>A	ENST00000264036.4	-	14	1721	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	569					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGGACCAGGATGCACACAA	0.617000													20	45					0	0	0.012319	0	0
LUZP2	338645	broad.mit.edu	37	11	25004745	25004745	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:25004745C>A	ENST00000533227.1	+	9	700	c.413C>A	c.(412-414)cCc>cAc	p.P138H	LUZP2_ENST00000336930.6_Missense_Mutation_p.P224H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	224						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAGCCTCCTCCCCCTTTGAGT	0.448000													82	80					4.41824e-40	4.70357e-40	0.014410	1	0
FAM172A	83989	broad.mit.edu	37	5	92956830	92956830	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:92956830C>T	ENST00000395965.3	-	11	1256	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	FAM172A_ENST00000505869.1_Missense_Mutation_p.D262N|FAM172A_ENST00000509739.1_Missense_Mutation_p.D225N|FAM172A_ENST00000509163.1_Missense_Mutation_p.D326N	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	372						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCGTGACGGTCGGTGCCTGCA	0.622000													8	20					0	0	0.003080	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274334	42274334	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:42274334G>A	ENST00000389384.4	-	4	725	c.417C>T	c.(415-417)atC>atT	p.I139I	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Silent_p.I139I	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	139					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTTGTCATTGATGTCATCAT	0.512000													41	97					0	0	0.014410	0	0
GPR89B	51463	broad.mit.edu	37	1	147408770	147408770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:147408770C>G	ENST00000314163.7	+	2	216	c.72C>G	c.(70-72)ttC>ttG	p.F24L		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	24					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					GGTGGCTTTTCTTCATGCGCC	0.294000													32	176					0	0	0.005524	0	0
CATSPERB	79820	broad.mit.edu	37	14	92084066	92084066	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:92084066C>T	ENST00000256343.3	-	20	2431	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	759					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTGGTATTTCAAGCATTCGA	0.313000													28	33					0	0	0.009535	0	0
UNC5C	8633	broad.mit.edu	37	4	96199421	96199421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:96199421G>A	ENST00000453304.1	-	4	931	c.583C>T	c.(583-585)Cca>Tca	p.P195S	UNC5C_ENST00000506749.1_Missense_Mutation_p.P195S|UNC5C_ENST00000504962.1_Missense_Mutation_p.P195S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	195	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGCCACTGGGATCCCTTCA	0.453000													14	52					0	0	0.002450	0	0
ATP7B	540	broad.mit.edu	37	13	52548420	52548420	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:52548420C>T	ENST00000242839.4	-	2	1092	c.936G>A	c.(934-936)caG>caA	p.Q312Q	ATP7B_ENST00000344297.5_Silent_p.Q312Q|ATP7B_ENST00000418097.2_Silent_p.Q312Q|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Silent_p.Q312Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Silent_p.Q280Q|ATP7B_ENST00000448424.2_Silent_p.Q312Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	312	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGATAGCCCTCTGCAGAGCCA	0.502000									Wilson disease				29	65					0	0	0.008361	0	0
RNF19A	25897	broad.mit.edu	37	8	101300012	101300012	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:101300012C>T	ENST00000519449.1	-	3	707	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RNF19A_ENST00000341084.2_Missense_Mutation_p.E131K	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	131					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AAAGGGCACTCTATGAAGTCT	0.368000													61	231					0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596991	136596991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:136596991C>T	ENST00000531224.1	-	5	1924	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	BCLAF1_ENST00000527759.1_Missense_Mutation_p.D556N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D556N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D556N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D558N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D385N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	558					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTGTTAGAATCATCAAGAGGA	0.383000													71	169					0	0	0.014410	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130376350	130376350	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:130376350C>T	ENST00000529410.1	+	10	1096	c.617C>T	c.(616-618)tCg>tTg	p.S206L	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S206L|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S181L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S206L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S181L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S181L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	206					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTGAGGGGTTCGCAGAGAGCA	0.383000													7	64					0	0	0.006214	0	0
FSTL4	23105	broad.mit.edu	37	5	132534795	132534795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132534795C>T	ENST00000265342.7	-	16	2770	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	841						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCATACCTCACCCACCCAC	0.557000													7	21					0	0	0.003080	0	0
DCHS1	8642	broad.mit.edu	37	11	6661225	6661225	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661225C>A	ENST00000299441.3	-	2	2031	c.1620G>T	c.(1618-1620)ttG>ttT	p.L540F		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	540	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGAGGTTCCAACTCATAGT	0.572000													12	32					6.31663e-08	6.52348e-08	0.003163	1	0
ABHD16A	7920	broad.mit.edu	37	6	31670992	31670992	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31670992C>T	ENST00000395952.3	-	1	229	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	XXbac-BPG32J3.20_ENST00000461287.1_Intron|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	23						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGGGCCCTTTCAGAGTCCCTC	0.657000													18	28					0	0	0.003330	0	0
SHC4	399694	broad.mit.edu	37	15	49176534	49176534	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:49176534C>A	ENST00000332408.4	-	4	1179	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	251	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTACTTTTGCCAAGGACTGTT	0.318000													15	50					6.72482e-11	7.02507e-11	0.003163	1	0
HOOK2	29911	broad.mit.edu	37	19	12885514	12885514	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:12885514G>A	ENST00000264827.5	-	3	343	c.173C>T	c.(172-174)tCg>tTg	p.S58L	HOOK2_ENST00000397668.3_Missense_Mutation_p.S58L|HOOK2_ENST00000589965.1_5'UTR	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	58	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TGGATCTTCCGAGATGCCCTG	0.587000													15	28					0	0	0.004990	0	0
KCTD20	222658	broad.mit.edu	37	6	36452534	36452534	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:36452534G>A	ENST00000373731.2	+	7	1291	c.900G>A	c.(898-900)gaG>gaA	p.E300E	KCTD20_ENST00000544295.1_Silent_p.E54E|KCTD20_ENST00000449081.2_Silent_p.E134E|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.E155E	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	300						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AATATATTGAGAATAGGGATG	0.343000													125	109					0	0	0.014410	0	0
PHTF2	57157	broad.mit.edu	37	7	77539723	77539723	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:77539723C>G	ENST00000416283.2	+	7	797	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Nonsense_Mutation_p.S258*|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S220*|PHTF2_ENST00000450574.1_Nonsense_Mutation_p.S224*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S224*|PHTF2_ENST00000424760.1_Nonsense_Mutation_p.S220*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.S220*|PHTF2_ENST00000415251.2_Nonsense_Mutation_p.S220*	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCTTTTTATCAGGGTTTGTA	0.398000													17	21					0	0	0.006122	0	0
ZNF254	9534	broad.mit.edu	37	19	24309428	24309428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:24309428C>T	ENST00000357002.4	+	4	741	c.626C>T	c.(625-627)tCc>tTc	p.S209F	ZNF254_ENST00000342944.6_Missense_Mutation_p.S124F	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	209					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAGAGAAGTCCTACAAATGT	0.303000													21	66					0	0	0.012319	0	0
MYCN	4613	broad.mit.edu	37	2	16082186	16082186	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:16082186G>A	ENST00000281043.3	+	0	297				MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog						regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GAGGCGAGCCGATGCCGAGCT	0.657000			A		neuroblastoma								5	39					0	0	0.000602	0	0
ANKRD52	283373	broad.mit.edu	37	12	56651667	56651667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56651667C>T	ENST00000267116.7	-	2	177	c.56G>A	c.(55-57)cGa>cAa	p.R19Q		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	19							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CTCCACATCTCGGCTAAAGAT	0.637000													13	23					0	0	0.013537	0	0
PHKA1	5255	broad.mit.edu	37	X	71846900	71846900	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71846900C>G	ENST00000373545.3	-	17	2153		c.e17-1		PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATCTTCATCTTGAAATGAA	0.363000													26	11					0	0	0.003330	0	0
ABCA2	20	broad.mit.edu	37	9	139907259	139907259	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:139907259C>T	ENST00000265662.5	-	31	5133	c.4986G>A	c.(4984-4986)caG>caA	p.Q1662Q	ABCA2_ENST00000341511.6_Silent_p.Q1662Q|ABCA2_ENST00000371605.3_Silent_p.Q1661Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1661					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCACCCGCATCTGGGGCGGGT	0.687000													8	8					0	0	0.010729	0	0
MACF1	23499	broad.mit.edu	37	1	39757669	39757669	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39757669G>A	ENST00000564288.1	+	16	2650	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	MACF1_ENST00000361689.2_Missense_Mutation_p.E630K|MACF1_ENST00000317713.7_Missense_Mutation_p.E630K|MACF1_ENST00000567887.1_Missense_Mutation_p.E662K|MACF1_ENST00000545844.1_Missense_Mutation_p.E630K|MACF1_ENST00000372915.3_Missense_Mutation_p.E630K|MACF1_ENST00000539005.1_Missense_Mutation_p.E630K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	630					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)			TACGAGTGTAGAAGAGCTGGG	0.507000													27	30					0	0	0.003954	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784859	68784859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:68784859C>T	ENST00000508048.1	-	8	816	c.781G>A	c.(781-783)Gag>Aag	p.E261K	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.E265K|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.E262K|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	265	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CGGTACTTCTCATGGATAATA	0.408000													60	74					0	0	0.014410	0	0
WDR19	57728	broad.mit.edu	37	4	39278656	39278656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39278656G>A	ENST00000399820.3	+	34	3887	c.3733G>A	c.(3733-3735)Gag>Aag	p.E1245K	WDR19_ENST00000288634.7_Missense_Mutation_p.E1085K	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1245					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CGATATATCTGAGATAGAAGA	0.418000													31	94					0	0	0.013726	0	0
PGK2	5232	broad.mit.edu	37	6	49753659	49753659	+	Silent	SNP	G	G	A	rs142237772	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:49753659G>A	ENST00000304801.3	-	1	1394	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	414					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACATGTTGCTGAGGGCCTCTA	0.433000													38	60					0	0	0.006999	0	0
LAMP1	3916	broad.mit.edu	37	13	113976673	113976673	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113976673C>T	ENST00000332556.4	+	9	1385	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	LAMP1_ENST00000397181.3_Silent_p.L344L|LAMP1_ENST00000471046.1_3'UTR	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	397						endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GGCTGGTCCTCATCGTCCTCA	0.627000													30	15					0	0	0.013726	0	0
HES1	3280	broad.mit.edu	37	3	193855629	193855629	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193855629C>T	ENST00000232424.3	+	4	686	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	150					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCCAGATCAATGCCATGA	0.716000													5	18					0	0	0.001168	0	0
MYT1L	23040	broad.mit.edu	37	2	1893096	1893096	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:1893096C>T	ENST00000399161.2	-	16	3184	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E811K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	813					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAGTCGCCCTCGCCCAGCTGG	0.587000													23	92					0	0	0.002780	0	0
ASPG	374569	broad.mit.edu	37	14	104571063	104571063	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:104571063C>T	ENST00000551177.1	+	9	1133	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ASPG_ENST00000546892.2_Silent_p.V347V|ASPG_ENST00000455920.2_Silent_p.V347V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	347	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCTGGATGTCAGGAAGGAGG	0.657000													10	6					0	0	0.013537	0	0
GON4L	54856	broad.mit.edu	37	1	155823271	155823271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155823271G>A	ENST00000437809.1	-	2	423	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q101*|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q101*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q101*	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	101					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTGATTCCCTGAGAGATGGCC	0.443000													49	362					0	0	0.014410	0	0
RBM39	9584	broad.mit.edu	37	20	34322864	34322864	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:34322864G>T	ENST00000397370.3	-	4	545	c.241C>A	c.(241-243)Cag>Aag	p.Q81K	RBM39_ENST00000253363.6_Intron|RBM39_ENST00000407261.4_Intron|RBM39_ENST00000361162.6_Intron|RBM39_ENST00000528062.3_Intron			Q14498	RBM39_HUMAN	RNA binding motif protein 39	8	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ATTTTGTACTGAACATCACTG	0.388000													6	20					2.0095e-06	2.06161e-06	0.001984	1	0
SHD	56961	broad.mit.edu	37	19	4288325	4288325	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:4288325G>A	ENST00000543264.2	+	5	2265	c.802G>A	c.(802-804)Gag>Aag	p.E268K	SHD_ENST00000599689.1_Intron	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	268	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTCAGTGAGACCAACCC	0.572000													8	26					0	0	0.004482	0	0
VRK1	7443	broad.mit.edu	37	14	97313665	97313665	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:97313665G>A	ENST00000216639.3	+	5	507	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	120	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGGTCTACATGACAAAAATGG	0.348000													13	36					0	0	0.001855	0	0
ABCD2	225	broad.mit.edu	37	12	39947845	39947845	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:39947845C>T	ENST00000308666.3	-	10	2227	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	698	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTTTTCTTCACTCAATGTC	0.383000													32	15					0	0	0.009535	0	0
MLLT4	4301	broad.mit.edu	37	6	168352586	168352586	+	Silent	SNP	C	C	T	rs141139097		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:168352586C>T	ENST00000366806.2	+	30	4673	c.4531C>T	c.(4531-4533)Ctg>Ttg	p.L1511L	MLLT4_ENST00000392108.3_Silent_p.L1511L|MLLT4_ENST00000392112.1_Silent_p.L1494L|MLLT4_ENST00000351017.4_Silent_p.L1518L|MLLT4_ENST00000400822.3_Silent_p.L1510L|MLLT4_ENST00000344191.4_Silent_p.L1511L|MLLT4_ENST00000447894.2_Silent_p.L1511L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1511					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.L1495L(1)|p.L1511L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGGGGACAGTCTGTCCCCCGA	0.602000			T	MLL	AL								24	29					0	0	0.004656	0	0
C1orf141	400757	broad.mit.edu	37	1	67559011	67559011	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:67559011C>G	ENST00000371007.2	-	8	989	c.880G>C	c.(880-882)Gat>Cat	p.D294H	C1orf141_ENST00000371006.1_Missense_Mutation_p.D294H|C1orf141_ENST00000544837.1_Missense_Mutation_p.D294H	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	294										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGTTTATCATCTACAGTTGTG	0.333000													34	118					0	0	0.012213	0	0
FRMD8	83786	broad.mit.edu	37	11	65161130	65161130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65161130G>A	ENST00000317568.5	+	4	503	c.340G>A	c.(340-342)Gat>Aat	p.D114N	FRMD8_ENST00000416776.2_Intron|FRMD8_ENST00000355991.5_Missense_Mutation_p.D58N	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	114	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGCCCCAGACGATGACGTGGC	0.652000													5	13					0	0	0.000602	0	0
SHKBP1	92799	broad.mit.edu	37	19	41088265	41088265	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41088265C>T	ENST00000291842.5	+	10	902	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	SHKBP1_ENST00000600733.1_Intron	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	285						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGGTCTTTCATCTGGGGGT	0.597000													23	92					0	0	0.014323	0	0
SCARB2	950	broad.mit.edu	37	4	77100813	77100813	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:77100813C>T	ENST00000264896.2	-	4	818	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	157					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			AACATGGCCTCGATGATCTCC	0.498000											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	136	113					0	0	0.014410	0	0
PDE5A	8654	broad.mit.edu	37	4	120549792	120549792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:120549792C>T	ENST00000354960.3	-	1	354	c.35G>A	c.(34-36)cGa>cAa	p.R12Q		NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	12	Poly-Gln.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ctgctgctgtcgctgctgcCC	0.637000											OREG0016307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	9					0	0	0.003954	0	0
RNF216	54476	broad.mit.edu	37	7	5780687	5780687	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:5780687G>C	ENST00000425013.2	-	4	1014	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	RNF216_ENST00000389902.3_Missense_Mutation_p.Q321E	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	264					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTGGGCTCTTGAGATTCTTGC	0.453000													32	108					0	0	0.012213	0	0
IKBIP	121457	broad.mit.edu	37	12	99019906	99019906	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:99019906C>T	ENST00000299157.4	-	3	1309	c.936G>A	c.(934-936)ctG>ctA	p.L312L	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	313					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ACACTGCTTTCAGCATATCAT	0.343000													18	74					0	0	0.004990	0	0
MRPL15	29088	broad.mit.edu	37	8	55060079	55060079	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:55060079G>A	ENST00000260102.4	+	5	765	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	231					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CAAATTTCCTGAAGCACGACT	0.438000													20	121					0	0	0.010504	0	0
HSPG2	3339	broad.mit.edu	37	1	22178312	22178312	+	Silent	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22178312A>T	ENST00000374695.3	-	54	7057	c.6978T>A	c.(6976-6978)acT>acA	p.T2326T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2326	Ig-like C2-type 8.				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)	CCTGGGTCCCAGTTACTGTGA	0.637000													12	37					0	0	0.013537	0	0
NCOA7	135112	broad.mit.edu	37	6	126203598	126203598	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:126203598G>A	ENST00000368357.3	+	8	952	c.600G>A	c.(598-600)ttG>ttA	p.L200L	NCOA7_ENST00000229634.9_Silent_p.L96L|NCOA7_ENST00000392477.2_Silent_p.L200L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	200					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAAAGGCCTTGAAACCCATTG	0.358000													18	38					0	0	0.006122	0	0
COX6A1	1337	broad.mit.edu	37	12	120876184	120876184	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120876184C>G	ENST00000229379.2	+	2	143	c.106C>G	c.(106-108)Cgc>Ggc	p.R36G	AL021546.6_ENST00000551806.1_Missense_Mutation_p.S12W	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	36					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCGCAGCTCGCATGTGGAA	0.637000													8	21					0	0	0.008291	0	0
ZBTB1	22890	broad.mit.edu	37	14	64990098	64990098	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64990098G>C	ENST00000358738.3	+	2	2267	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D626H|ZBTB1_ENST00000554015.1_Missense_Mutation_p.D626H	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACTGCACAATGATATGCACAA	0.388000													48	54					0	0	0.014410	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307491	39307491	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:39307491C>G	ENST00000541347.1	-	2	749	c.510G>C	c.(508-510)caG>caC	p.Q170H	CX3CR1_ENST00000542107.1_Missense_Mutation_p.Q170H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.Q170H|CX3CR1_ENST00000358309.3_Missense_Mutation_p.Q202H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	170					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATTTTCTTTCTGCTTTGTGA	0.547000													41	91					0	0	0.008740	0	0
FAM26D	221301	broad.mit.edu	37	6	116879249	116879249	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:116879249G>A	ENST00000368596.3	+	2	864	c.820G>A	c.(820-822)Gat>Aat	p.D274N	FAM26D_ENST00000405399.1_Missense_Mutation_p.D131N|FAM26D_ENST00000416171.2_Missense_Mutation_p.D130N|FAM26D_ENST00000368597.2_Missense_Mutation_p.D88N			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	274						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		GGACTGGAAAGATATTTCAGT	0.453000													54	101					0	0	0.014410	0	0
ETS2	2114	broad.mit.edu	37	21	40191551	40191551	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:40191551G>A	ENST00000360214.3	+	9	1396	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ETS2_ENST00000360938.3_Silent_p.E312E	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	312					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CTTCCTTCGAGAGCTTCGAAG	0.547000													7	20					0	0	0.001984	0	0
ATP6V1G1	9550	broad.mit.edu	37	9	117359915	117359915	+	Silent	SNP	C	C	T	rs112425042		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:117359915C>T	ENST00000374050.3	+	3	342	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_004888.3	NP_004879.1	O75348	VATG1_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	83					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances			endometrium(1)|lung(2)|prostate(1)|skin(1)	5						AGATGACCATCCTCCAGACAT	0.512000													22	71					0	0	0.002780	0	0
IGHG4	3503	broad.mit.edu	37	14	106091498	106091498	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:106091498C>T	ENST00000390543.2	-	0	395																											TCCGGGAGATCATGAGAGTGT	0.602000													24	96					0	0	0.003330	0	0
CCNH	902	broad.mit.edu	37	5	86700760	86700760	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86700760C>T	ENST00000508855.1	-	4	420	c.368G>A	c.(367-369)aGa>aAa	p.R123K	CCNH_ENST00000256897.4_Missense_Mutation_p.R197K|CCNH_ENST00000504878.1_Missense_Mutation_p.R123K|CCNH_ENST00000513499.1_5'UTR			P51946	CCNH_HUMAN	cyclin H	197					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CAATGCAATTCTATTAAGAAA	0.408000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					17	37					0	0	0.004007	0	0
AKAP13	11214	broad.mit.edu	37	15	86076934	86076934	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:86076934C>G	ENST00000394518.2	+	4	396	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q101E|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q101E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	101					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATGCAGCTCAATTCCTAGC	0.493000													20	57					0	0	0.010504	0	0
DDX11	1663	broad.mit.edu	37	12	31240903	31240903	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:31240903G>A	ENST00000407793.2	+	6	921	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	DDX11_ENST00000228264.6_Missense_Mutation_p.E198K|DDX11_ENST00000251758.5_Silent_p.K286K|DDX11_ENST00000350437.4_Missense_Mutation_p.E224K|DDX11_ENST00000545668.1_Missense_Mutation_p.E224K|DDX11_ENST00000542838.1_Missense_Mutation_p.E224K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	224	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCTGGAGGAAGAACACATAAC	0.532000										Multiple Myeloma(12;0.14)			5	11					0	0	0.000602	0	0
RP4-583P15.15	0	broad.mit.edu	37	20	62340319	62340319	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62340319G>A	ENST00000490623.2	+	1	104	c.104G>A	c.(103-105)tGa>tAa	p.*35*	ZGPAT_ENST00000448100.2_Silent_p.L129L|ZGPAT_ENST00000369967.3_Silent_p.L129L|ZGPAT_ENST00000357119.4_Silent_p.L129L|ZGPAT_ENST00000328969.5_Silent_p.L129L|ZGPAT_ENST00000355969.6_Silent_p.L129L																							aggaagagCTGAGTGGGACAA	0.632000													17	45					0	0	0.004007	0	0
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:72968754G>A	ENST00000264839.7	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353000													53	73					0	0	0.014410	0	0
RBM11	54033	broad.mit.edu	37	21	15599416	15599416	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15599416G>A	ENST00000400577.3	+	5	657	c.648G>A	c.(646-648)ctG>ctA	p.L216L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	216							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CTTCCTCACTGAATCATGTTC	0.443000													8	395					0	0	0.004482	0	0
TRIM58	25893	broad.mit.edu	37	1	248039263	248039263	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:248039263C>T	ENST00000366481.3	+	6	981	c.933C>T	c.(931-933)cgC>cgT	p.R311R	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGACCTGCGCAGTGTGCAGG	0.572000													16	30					0	0	0.004990	0	0
SRRM2	23524	broad.mit.edu	37	16	2818133	2818133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:2818133C>G	ENST00000301740.8	+	11	8153	c.7604C>G	c.(7603-7605)tCg>tGg	p.S2535W	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2535	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTtcctcctcgtcgtcgtcg	0.617000													6	9					0	0	0.006214	0	0
NOVA1	4857	broad.mit.edu	37	14	27064680	27064680	+	Silent	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:27064680A>G	ENST00000539517.2	-	2	533	c.216T>C	c.(214-216)atT>atC	p.I72I	NOVA1_ENST00000547619.1_Silent_p.I72I|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Silent_p.I72I|NOVA1_ENST00000465357.2_Silent_p.I72I|NOVA1_ENST00000344429.5_Silent_p.I72I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	72	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAACTGAACAATTGTCTGTC	0.403000													22	103					0	0	0.012319	0	0
ULK2	9706	broad.mit.edu	37	17	19708077	19708077	+	Missense_Mutation	SNP	C	C	A	rs138826045		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:19708077C>A	ENST00000395544.4	-	15	1723	c.1224G>T	c.(1222-1224)agG>agT	p.R408S	ULK2_ENST00000361658.2_Missense_Mutation_p.R408S|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	408					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTGATAATTCCTTATTTGAG	0.408000													36	20					2.91434e-09	3.02701e-09	0.004878	1	0
EEPD1	80820	broad.mit.edu	37	7	36327382	36327382	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:36327382G>A	ENST00000242108.4	+	6	2029	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L	EEPD1_ENST00000534978.1_Silent_p.L437L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	437					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGGAAACCCTGAAAGGTAGGA	0.567000													44	78					0	0	0.014410	0	0
HERC1	8925	broad.mit.edu	37	15	64005081	64005081	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005081T>G	ENST00000443617.2	-	24	4564	c.4477A>C	c.(4477-4479)Act>Cct	p.T1493P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1493					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCTCTGCAGTAAGACTTTCA	0.383000													10	13					0	0	0.008291	0	0
MEGF8	1954	broad.mit.edu	37	19	42854308	42854308	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42854308C>T	ENST00000334370.4	+	14	2942	c.2307C>T	c.(2305-2307)tcC>tcT	p.S769S	MEGF8_ENST00000251268.6_Silent_p.S836S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	836						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGGAGATCTCCTTCTTCTTCC	0.607000													15	86					0	0	0.003163	0	0
HECW1	23072	broad.mit.edu	37	7	43540819	43540819	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:43540819G>A	ENST00000395891.2	+	21	4134	c.3529G>A	c.(3529-3531)Gaa>Aaa	p.E1177K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1143K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGTCTCTTTGAAGAAGAGAT	0.438000													14	63					0	0	0.001855	0	0
HERC2P2	400322	broad.mit.edu	37	15	23313237	23313237	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:23313237G>A	ENST00000560464.1	-	0	3006																											GCGTGAGAGCGATGCTCTGCA	0.612000													8	12					0	0	0.013537	0	0
HAS2	3037	broad.mit.edu	37	8	122629422	122629422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:122629422C>G	ENST00000303924.4	-	3	1189	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	218						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GAGGCTGGGTCAAGCATAGTG	0.393000													9	52					0	0	0.004482	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583548	145583548	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145583548C>T	ENST00000532887.1	+	3	979	c.396C>T	c.(394-396)ttC>ttT	p.F132F	SLC52A2_ENST00000329994.2_Silent_p.F132F|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000527078.1_Silent_p.F132F|SLC52A2_ENST00000402965.1_Silent_p.F132F|SLC52A2_ENST00000530047.1_Silent_p.F132F|SLC52A2_ENST00000540505.1_Silent_p.F44F|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	132						integral to plasma membrane	receptor activity|riboflavin transporter activity										ATGTCACTTTCCTGCCCTTCT	0.602000													38	121					0	0	0.007835	0	0
CD177	57126	broad.mit.edu	37	19	43866321	43866321	+	RNA	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:43866321G>T	ENST00000378009.4	+	0	1324				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGACAAATCGGGATCTTCTCT	0.592000													8	79					1.76689e-08	1.82997e-08	0.006214	1	0
RHBG	57127	broad.mit.edu	37	1	156354598	156354598	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:156354598G>A	ENST00000368246.2	+	11	1373	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	RHBG_ENST00000255013.3_3'UTR|RHBG_ENST00000368249.1_3'UTR|RHBG_ENST00000400992.2_3'UTR|RHBG_ENST00000494874.1_3'UTR			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	0					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATAAAGCCCAGAGACCTCTGA	0.592000											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	8					0	0	0.003755	0	0
PUF60	22827	broad.mit.edu	37	8	144898723	144898723	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144898723C>T	ENST00000526683.1	-	12	2202	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	PUF60_ENST00000453551.2_Silent_p.Q506Q|PUF60_ENST00000349157.6_Silent_p.Q532Q|PUF60_ENST00000456095.2_Silent_p.Q520Q|PUF60_ENST00000313352.7_Silent_p.Q489Q|PUF60_ENST00000527197.1_Silent_p.Q503Q	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	549	Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAAAACGCTCCTGGTCGTACA	0.532000													77	45					0	0	0.014410	0	0
LPIN2	9663	broad.mit.edu	37	18	2920390	2920390	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:2920390G>A	ENST00000261596.4	-	20	2830	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	864					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTCCTTACTGAGAAGGGGGA	0.537000													17	28					0	0	0.007413	0	0
NSD1	64324	broad.mit.edu	37	5	176562564	176562564	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:176562564G>C	ENST00000439151.2	+	2	505	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.E154Q|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	154					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGCACTTTGAGAATTTTAC	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	107					0	0	0.010504	0	0
MED12	9968	broad.mit.edu	37	X	70355032	70355032	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:70355032G>A	ENST00000333646.6	+	36	5153	c.4954G>A	c.(4954-4956)Gag>Aag	p.E1652K	MED12_ENST00000374102.1_Missense_Mutation_p.E1652K|MED12_ENST00000374080.3_Missense_Mutation_p.E1652K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1652	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCACGTGTGAGCCACAGGG	0.562000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						21	1					0	0	0.008871	0	0
PTK2B	2185	broad.mit.edu	37	8	27301724	27301724	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:27301724C>T	ENST00000397501.1	+	28	2958	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	PTK2B_ENST00000397497.4_Splice_Site_p.P463L|PTK2B_ENST00000420218.2_Splice_Site_p.P717L|PTK2B_ENST00000517339.1_Splice_Site_p.P717L|PTK2B_ENST00000338238.4_Splice_Site_p.P717L|PTK2B_ENST00000346049.5_Splice_Site_p.P717L|PTK2B_ENST00000544172.1_Splice_Site_p.P717L	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	717	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCTCTCCAGCCCAGCCGACCT	0.537000													8	10					0	0	0.006214	0	0
KLHL10	317719	broad.mit.edu	37	17	40001428	40001428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40001428G>A	ENST00000293303.4	+	3	888	c.735G>A	c.(733-735)atG>atA	p.M245I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	245						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATGTTAAGATGAATGACTATG	0.433000													13	42					0	0	0.013537	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116062228	116062228	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116062228C>T	ENST00000369271.3	-	12	1600	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E487K|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E434K	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	434	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGGCCCATTTCCTCGGAAGAC	0.607000													22	66					0	0	0.005443	0	0
CEP250	11190	broad.mit.edu	37	20	34057761	34057761	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:34057761G>A	ENST00000397527.1	+	10	1618	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	CEP250_ENST00000397524.1_Missense_Mutation_p.E300K|CEP250_ENST00000342580.4_Missense_Mutation_p.E300K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	300					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGCAAAATGAAGATTATGA	0.488000													34	57					0	0	0.004878	0	0
TREML1	340205	broad.mit.edu	37	6	41121535	41121535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:41121535G>A	ENST00000373127.4	-	2	385	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000426005.2_Nonsense_Mutation_p.Q113*	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	113	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAAAATCTGGGGCCCCCTG	0.607000													102	37					0	0	0.014410	0	0
OSGEP	55644	broad.mit.edu	37	14	20916914	20916914	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:20916914G>A	ENST00000555656.1	-	2	2034	c.17C>T	c.(16-18)tCa>tTa	p.S6L	OSGEP_ENST00000554249.1_Missense_Mutation_p.S23L|OSGEP_ENST00000206542.4_Missense_Mutation_p.S205L			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	205					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CAGGATCCCTGAGAATGAGAC	0.438000													16	42					0	0	0.007413	0	0
JOSD2	126119	broad.mit.edu	37	19	51009492	51009492	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:51009492C>T	ENST00000598418.1	-	5	758	c.505G>A	c.(505-507)Gag>Aag	p.E169K	JOSD2_ENST00000601423.1_Missense_Mutation_p.E169K|JOSD2_ENST00000391815.3_Missense_Mutation_p.E169K|JOSD2_ENST00000595669.1_Missense_Mutation_p.E127K	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	169	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		AGCAGCACCTCGCACAGGCCC	0.682000													6	42					0	0	0.001168	0	0
SRSF9	8683	broad.mit.edu	37	12	120903591	120903591	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:120903591C>G	ENST00000229390.3	-	2	372		c.e2-1			NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CTCTGCATCTCTAAAAAAAAC	0.453000													20	42					0	0	0.012319	0	0
MATR3	9782	broad.mit.edu	37	5	138665072	138665072	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138665072G>C	ENST00000394800.2	+	19	3225	c.2676G>C	c.(2674-2676)aaG>aaC	p.K892N	MATR3_ENST00000394805.3_Missense_Mutation_p.K844N|MATR3_ENST00000504203.1_Missense_Mutation_p.K506N|MATR3_ENST00000510056.1_3'UTR|MATR3_ENST00000361059.2_Missense_Mutation_p.K844N|MATR3_ENST00000502929.1_Missense_Mutation_p.K892N|MATR3_ENST00000509990.1_Missense_Mutation_p.K844N|MATR3_ENST00000502499.1_Missense_Mutation_p.K506N|MATR3_ENST00000503811.1_Missense_Mutation_p.K556N			P43243	MATR3_HUMAN	matrin 3	844						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCAGACAGAAGAAGGAAACTT	0.289000													17	88					0	0	0.004007	0	0
LGALS13	29124	broad.mit.edu	37	19	40097960	40097960	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:40097960C>T	ENST00000221797.4	+	4	446	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	134	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TCCCTGACCTCAGTGTGTGTC	0.463000													42	53					0	0	0.009718	0	0
SYNE1	23345	broad.mit.edu	37	6	152831425	152831425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:152831425C>T	ENST00000367255.5	-	8	1085	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SYNE1_ENST00000341594.5_Missense_Mutation_p.E162K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E162K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E162K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E162K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E169K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E162K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E169K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E169K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	162	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGGAGTCTCAGAGCTAACT	0.498000										HNSCC(10;0.0054)			63	84					0	0	0.014410	0	0
FGD5	152273	broad.mit.edu	37	3	14949214	14949214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:14949214G>T	ENST00000285046.5	+	10	3442	c.3332G>T	c.(3331-3333)gGa>gTa	p.G1111V	FGD5_ENST00000543601.1_Missense_Mutation_p.G870V|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1111					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTCCAGCCAGGAAGGGTGAGT	0.642000													4	22					1.12685e-05	1.15281e-05	0.004482	1	0
CHRM2	1129	broad.mit.edu	37	7	136700170	136700170	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:136700170C>G	ENST00000445907.2	+	3	1086	c.558C>G	c.(556-558)gtC>gtG	p.V186V	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.V186V|CHRM2_ENST00000320658.5_Silent_p.V186V|CHRM2_ENST00000397608.3_Silent_p.V186V|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V186V|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V186V|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	186					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATGCTGCTGTCACCTTTGGTA	0.488000													57	60					0	0	0.014410	0	0
WDR91	29062	broad.mit.edu	37	7	134873230	134873230	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:134873230G>A	ENST00000354475.4	-	13	1867	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	WDR91_ENST00000344400.5_Intron|WDR91_ENST00000423565.1_Silent_p.F577F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	612										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CATCATAGCTGAACTCCACAG	0.587000													33	104					0	0	0.003755	0	0
GLRX3	10539	broad.mit.edu	37	10	131964842	131964842	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:131964842G>A	ENST00000368644.1	+	5	572	c.550G>A	c.(550-552)Gat>Aat	p.D184N	GLRX3_ENST00000331244.5_Missense_Mutation_p.D184N	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	184	Glutaredoxin 1.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TATCTTCTCAGATGAAGAGGT	0.383000													24	100					0	0	0.002780	0	0
SCPEP1	59342	broad.mit.edu	37	17	55058443	55058443	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55058443G>A	ENST00000262288.3	+	2	132	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	26					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCTGTTTCAGGAGCTGTCATT	0.483000													22	15					0	0	0.012319	0	0
RBM18	92400	broad.mit.edu	37	9	125023758	125023758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:125023758G>A	ENST00000417201.3	-	2	154	c.14C>T	c.(13-15)aCc>aTc	p.T5I	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	5							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						AAGAGTTTTGGTTTCTGCTTC	0.448000													38	27					0	0	0.005524	0	0
VAPB	9217	broad.mit.edu	37	20	56993382	56993382	+	Silent	SNP	C	C	T	rs139149560	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:56993382C>T	ENST00000475243.1	+	2	512	c.174C>T	c.(172-174)agC>agT	p.S58S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Silent_p.S58S	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	58	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GGCCCAACAGCGGAATCATCG	0.517000													20	112					0	0	0.008871	0	0
DKK2	27123	broad.mit.edu	37	4	107956627	107956627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:107956627G>A	ENST00000285311.3	-	1	827	c.122C>T	c.(121-123)tCt>tTt	p.S41F	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	41					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCGCCCAGAGAGGACTTGAT	0.612000													41	18					0	0	0.014410	0	0
LYPD5	284348	broad.mit.edu	37	19	44302740	44302740	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44302740C>T	ENST00000377950.3	-	4	464	c.384G>A	c.(382-384)ccG>ccA	p.P128P	LYPD5_ENST00000594013.1_Silent_p.P85P|LYPD5_ENST00000414615.2_Silent_p.P85P	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	128						anchored to membrane|plasma membrane				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				CGCTGAGCGTCGGCGGGTCGG	0.677000													11	50					0	0	0.008291	0	0
BICD2	23299	broad.mit.edu	37	9	95482795	95482795	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:95482795G>C	ENST00000356884.6	-	4	916	c.849C>G	c.(847-849)ctC>ctG	p.L283L	BICD2_ENST00000375512.3_Silent_p.L283L	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	283					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACTGAACTTGAGGCCATCCA	0.577000													43	35					0	0	0.008740	0	0
LRFN5	145581	broad.mit.edu	37	14	42356993	42356993	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:42356993G>C	ENST00000554171.1	+	5	3597	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q	LRFN5_ENST00000554120.1_Missense_Mutation_p.E389Q|LRFN5_ENST00000298119.4_Missense_Mutation_p.E389Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	389						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATATCCATGAGCCTGATCC	0.378000										HNSCC(30;0.082)			21	53					0	0	0.008871	0	0
OR2V2	285659	broad.mit.edu	37	5	180582627	180582627	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:180582627A>G	ENST00000328275.1	+	1	685	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGCTGCAAATGCACTCTGC	0.527000													34	158					0	0	0.012213	0	0
PTDSS1	9791	broad.mit.edu	37	8	97274371	97274371	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:97274371G>A	ENST00000517309.1	+	1	429	c.103G>A	c.(103-105)Gac>Aac	p.D35N	PTDSS1_ENST00000455950.2_5'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	35					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CATCACCATTGACTTCTTCTA	0.577000													12	57					0	0	0.001855	0	0
PTPRA	5786	broad.mit.edu	37	20	2968991	2968991	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:2968991G>A	ENST00000216877.6	+	8	982	c.582G>A	c.(580-582)caG>caA	p.Q194Q	PTPRA_ENST00000356147.3_Silent_p.Q194Q|PTPRA_ENST00000425918.2_Silent_p.Q214Q|PTPRA_ENST00000380393.3_Silent_p.Q203Q|PTPRA_ENST00000358719.4_Silent_p.Q59Q|PTPRA_ENST00000399903.2_Silent_p.Q203Q|PTPRA_ENST00000318266.5_Silent_p.Q194Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	203					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAGCCCCAGAGTGTGCCAC	0.567000													22	82					0	0	0.003330	0	0
LTBP4	8425	broad.mit.edu	37	19	41118028	41118028	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:41118028G>A	ENST00000308370.7	+	18	2430	c.2430G>A	c.(2428-2430)gtG>gtA	p.V810V	LTBP4_ENST00000545697.1_Silent_p.V263V|LTBP4_ENST00000204005.9_Silent_p.V773V|LTBP4_ENST00000396819.3_Silent_p.V743V|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	810	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGAGTGTGTGAACTCGCCCG	0.637000													4	15					0	0	0.001168	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988999	154988999	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:154988999C>T	ENST00000368426.3	+	4	1595	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	ZBTB7B_ENST00000417934.2_Silent_p.L520L|ZBTB7B_ENST00000535420.1_Silent_p.L486L|ZBTB7B_ENST00000292176.2_Silent_p.L486L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	486					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTCGACCTCTCCAATGGCC	0.682000													8	42					0	0	0.010729	0	0
NAGK	55577	broad.mit.edu	37	2	71297643	71297643	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:71297643G>A	ENST00000455662.2	+	2	424	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	NAGK_ENST00000443938.2_Missense_Mutation_p.R14Q|NAGK_ENST00000244204.6_Missense_Mutation_p.R14Q|NAGK_ENST00000443872.2_Intron|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000418807.3_Intron	NM_017567.4	NP_060037.3	Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	14			A -> V (in dbSNP:rs17849984).		N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GGAGGCACACGATCCGAGGTC	0.527000											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	35					0	0	0.010729	0	0
FAM228A	653140	broad.mit.edu	37	2	24398440	24398440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24398440G>C	ENST00000295150.3	+	2	177	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		TTCTTTAATGGAGGTGAGATA	0.483000													32	30					0	0	0.009535	0	0
AKAP9	10142	broad.mit.edu	37	7	91630771	91630771	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:91630771G>A	ENST00000359028.2	+	9	1801	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E526K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E514K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	526	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E514K(1)|p.E526K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTCAAGGAAGAACTAGG	0.333000			T	BRAF	papillary thyroid								21	83					0	0	0.010504	0	0
ILF3	3609	broad.mit.edu	37	19	10793282	10793282	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:10793282G>A	ENST00000449870.1	+	13	1767	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	ILF3_ENST00000420083.1_Missense_Mutation_p.E484K|ILF3_ENST00000318511.3_Missense_Mutation_p.E484K|ILF3_ENST00000589998.1_Missense_Mutation_p.E484K|ILF3_ENST00000407004.3_Missense_Mutation_p.E484K|ILF3_ENST00000590261.1_Missense_Mutation_p.E484K|ILF3_ENST00000588657.1_Missense_Mutation_p.E484K|ILF3_ENST00000250241.8_Missense_Mutation_p.E484K|ILF3_ENST00000592763.1_Missense_Mutation_p.E484K	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	484					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGACTCGGCTGAGGAGACCGA	0.647000													10	19					0	0	0.008291	0	0
GPR158	57512	broad.mit.edu	37	10	25883235	25883235	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:25883235C>G	ENST00000376351.3	+	9	2266	c.1907C>G	c.(1906-1908)tCa>tGa	p.S636*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	636						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTTCTTGCCTCAAGACTTCAG	0.363000													29	81					0	0	0.010818	0	0
SYNPR	132204	broad.mit.edu	37	3	63600994	63600994	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:63600994C>T	ENST00000478300.1	+	6	1106	c.695C>T	c.(694-696)tCa>tTa	p.S232L	SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000295894.5_Missense_Mutation_p.S212L|SYNPR_ENST00000460711.1_Missense_Mutation_p.S223L|SYNPR_ENST00000465156.1_Missense_Mutation_p.S148L	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	212	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		AGATATCTTTCAGATCCAATG	0.468000													6	26					0	0	0.001168	0	0
CRTC3	64784	broad.mit.edu	37	15	91172546	91172546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91172546C>T	ENST00000420329.2	+	11	1195	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	CRTC3_ENST00000268184.6_Missense_Mutation_p.P350S|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	350					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAATAACCACCCACAGACATC	0.512000			T	MAML2	salivary gland mucoepidermoid								42	148					0	0	0.008740	0	0
KIAA0100	9703	broad.mit.edu	37	17	26967622	26967622	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26967622C>T	ENST00000528896.2	-	8	920	c.846G>A	c.(844-846)aaG>aaA	p.K282K	KIAA0100_ENST00000544884.1_Silent_p.K139K|KIAA0100_ENST00000389003.3_Silent_p.K139K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	282						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGTTCTCCATCTTAACCTTGA	0.463000													33	74					0	0	0.004878	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54742015	54742015	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54742015C>T	ENST00000355221.3	-	4	854	c.295G>A	c.(295-297)Gat>Aat	p.D99N	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D59N|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D99N|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.D99N	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TGCAGCATATCATCCACCATA	0.318000													17	131					0	0	0.006122	0	0
HRCT1	646962	broad.mit.edu	37	9	35906254	35906254	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:35906254G>A	ENST00000354323.2	+	0	66					NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						GTGAGGAGCTGCTGGGCAGAG	0.637000													4	10					0	0	0.009096	0	0
ACBD5	91452	broad.mit.edu	37	10	27524079	27524079	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:27524079C>T	ENST00000396271.3	-	3	370	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375905.4_Missense_Mutation_p.E47K|ACBD5_ENST00000375888.1_Missense_Mutation_p.E80K|ACBD5_ENST00000375901.1_Intron	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	80	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGGGTCCTTCAGTTGCCTGC	0.343000													23	58					0	0	0.012319	0	0
ZNF417	147687	broad.mit.edu	37	19	58421054	58421054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58421054C>T	ENST00000312026.5	-	3	756	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	ZNF417_ENST00000595559.1_Missense_Mutation_p.E197K|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TGCATAGTTTCACTGTCTGTC	0.488000													37	69					0	0	0.011902	0	0
THEMIS2	9473	broad.mit.edu	37	1	28206495	28206495	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:28206495C>T	ENST00000373921.3	+	3	580	c.576C>T	c.(574-576)ctC>ctT	p.L192L	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.L192L|THEMIS2_ENST00000373925.1_Silent_p.L192L	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		ACCTCGTCCTCACCTGCCCCA	0.617000													4	8					0	0	0.009096	0	0
C9orf156	51531	broad.mit.edu	37	9	100672824	100672824	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:100672824C>T	ENST00000375119.3	-	4	560	c.484G>A	c.(484-486)Gag>Aag	p.E162K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	162					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				GAGTCATACTCAGCTATGTAG	0.413000													44	28					0	0	0.011902	0	0
PAX1	5075	broad.mit.edu	37	20	21687492	21687492	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:21687492G>A	ENST00000398485.2	+	2	757	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E211K	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	235					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGACCGTACGAGGCAAGTAA	0.647000													5	9					0	0	0.008291	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52805846	52805846	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:52805846G>A	ENST00000287727.3	+	17	4054	c.3882G>A	c.(3880-3882)gtG>gtA	p.V1294V	ZFYVE9_ENST00000357206.2_Silent_p.V1235V|ZFYVE9_ENST00000371591.1_Silent_p.V1294V			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1294					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAACAAATGTGAAGATATTCC	0.383000													19	71					0	0	0.007413	0	0
MFN1	55669	broad.mit.edu	37	3	179066706	179066706	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:179066706G>A	ENST00000471841.1	+	2	193	c.67G>A	c.(67-69)Gac>Aac	p.D23N	MFN1_ENST00000263969.5_Missense_Mutation_p.D23N|MFN1_ENST00000280653.7_Missense_Mutation_p.D23N	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	23					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGCAATCTTTGACCAGTTACT	0.358000													38	163					0	0	0.006999	0	0
MYH11	4629	broad.mit.edu	37	16	15841995	15841995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:15841995C>A	ENST00000452625.2	-	18	2197	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.E704*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.E697*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.E697*	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	697	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCAGCTGCTCCAGCACCAGG	0.622000			T	CBFB	AML								20	8					1.22574e-08	1.2707e-08	0.014323	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	145					0	0	0.001984	0	0
AGAP2	116986	broad.mit.edu	37	12	58127921	58127921	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58127921G>A	ENST00000257897.3	-	5	514	c.429C>T	c.(427-429)ttC>ttT	p.F143F	AGAP2_ENST00000547588.1_Silent_p.F479F	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	479					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTCCAGGCTGAAGACGAAGA	0.587000													20	19					0	0	0.010504	0	0
TTC9C	283237	broad.mit.edu	37	11	62505817	62505817	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62505817G>C	ENST00000316461.4	+	3	789	c.479G>C	c.(478-480)aGa>aCa	p.R160T	TTC9C_ENST00000532583.1_Missense_Mutation_p.R160T	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	160							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						AGCTACCATAGAAAAGAGAAG	0.458000													3	18					0	0	0.004672	0	0
CWC27	10283	broad.mit.edu	37	5	64267618	64267618	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:64267618G>A	ENST00000381070.3	+	12	1348	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	377					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGTCAAAGAAGGGAACTTCCC	0.383000													11	40					0	0	0.010729	0	0
FLG	2312	broad.mit.edu	37	1	152276091	152276091	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:152276091G>A	ENST00000368799.1	-	3	11306	c.11271C>T	c.(11269-11271)acC>acT	p.T3757T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3757	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGAATGGTGTCCTGAC	0.607000									Ichthyosis				569	229					0	0	0.014410	0	0
CARD11	84433	broad.mit.edu	37	7	2966391	2966391	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:2966391C>T	ENST00000396946.4	-	14	2192	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	597					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTAAGGCGTCAAACCCGCCG	0.577000			Mis		DLBCL								4	11					0	0	0.009096	0	0
C10orf91	170393	broad.mit.edu	37	10	134261557	134261557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:134261557G>A	ENST00000392630.3	+	3	491	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	C10orf91_ENST00000321248.2_Missense_Mutation_p.E144K	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	144			E -> G (in dbSNP:rs11146376).							endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TGCGGCCTTCGAAGCCTGAAG	0.662000													22	109					0	0	0.003330	0	0
RGS16	6004	broad.mit.edu	37	1	182571103	182571103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182571103C>T	ENST00000367558.5	-	4	533	c.385G>A	c.(385-387)Gag>Aag	p.E129K		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	129	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GCTCTAACCTCTTTAGGGGCC	0.567000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	43					0	0	0.005524	0	0
MANF	7873	broad.mit.edu	37	3	51426367	51426367	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51426367G>A	ENST00000528157.1	+	4	692	c.396G>A	c.(394-396)ctG>ctA	p.L132L	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	132					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						CAGTGGACCTGAAGAAGCTCC	0.527000											OREG0015594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	0.009096	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34831871	34831871	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:34831871C>T	ENST00000192788.5	+	15	3479	c.3308C>T	c.(3307-3309)tCt>tTt	p.S1103F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1103F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1103										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGACGGTATCTCAACAGTCA	0.522000													16	49					0	0	0.008871	0	0
CSPP1	79848	broad.mit.edu	37	8	67976635	67976635	+	Translation_Start_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:67976635T>C	ENST00000262210.5	+	1	33	c.2T>C	c.(1-3)aTg>aCg	p.M1T	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGGTCTGTCATGCTGTTCCCG	0.721000											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0.000602	0	0
PRPH	5630	broad.mit.edu	37	12	49689233	49689233	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49689233G>A	ENST00000257860.4	+	1	1749	c.250G>A	c.(250-252)Gag>Aag	p.E84K	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	84	Head.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CTCCATGGCCGAGGCCCTCAA	0.682000													6	7					0	0	0.001168	0	0
SEC24B	10427	broad.mit.edu	37	4	110384687	110384687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:110384687C>T	ENST00000265175.5	+	2	819	c.764C>T	c.(763-765)tCa>tTa	p.S255L	SEC24B_ENST00000504968.2_Missense_Mutation_p.S286L|SEC24B_ENST00000399100.2_Missense_Mutation_p.S255L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	255					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAAAGTCTTTCAGGATACAGT	0.473000													76	13					0	0	0.014410	0	0
PHB2	11331	broad.mit.edu	37	12	7078670	7078670	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:7078670C>A	ENST00000535923.1	-	3	564	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	PHB2_ENST00000542912.1_Missense_Mutation_p.G95C|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000440277.1_Missense_Mutation_p.G95C|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000399433.2_Missense_Mutation_p.G95C	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	95					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CCTTTGGAGCCTGTAGGGGAG	0.512000													19	48					1.9806e-07	2.04352e-07	0.014323	1	0
C3orf62	375341	broad.mit.edu	37	3	49314209	49314209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49314209C>T	ENST00000343010.3	-	1	1133	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	33										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTAACTCCTTCAAAGGCCCGG	0.527000													35	27					0	0	0.004878	0	0
DDB1	1642	broad.mit.edu	37	11	61067688	61067688	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:61067688C>T	ENST00000301764.7	-	27	3740	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N	DDB1_ENST00000451943.2_Missense_Mutation_p.D102N|DDB1_ENST00000538470.1_Missense_Mutation_p.D162N|DDB1_ENST00000450997.2_Missense_Mutation_p.D426N	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1115	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGCCATCGTCATACTGCAAT	0.592000								Nucleotide excision repair (NER)					5	13					0	0	0.001168	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072879	96072879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:96072879G>T	ENST00000233379.4	+	3	589	c.436G>T	c.(436-438)Gag>Tag	p.E146*	FAHD2A_ENST00000447036.1_Nonsense_Mutation_p.E146*	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	146							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCCTATGATGAGGTGGTCCT	0.562000													10	124					9.05144e-12	9.4692e-12	0.001855	1	0
GCC1	79571	broad.mit.edu	37	7	127224211	127224211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:127224211C>T	ENST00000321407.2	-	1	1450	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	342						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTACCTTTCTCATTTCCTGCT	0.443000													15	45					0	0	0.007413	0	0
HOXB13	10481	broad.mit.edu	37	17	46805665	46805665	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:46805665C>T	ENST00000290295.7	-	1	875	c.291G>A	c.(289-291)ctG>ctA	p.L97L		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CACAGGGTTTCAGCGAGCTCC	0.672000													39	46					0	0	0.009718	0	0
PTPN13	5783	broad.mit.edu	37	4	87653921	87653921	+	Splice_Site	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:87653921T>C	ENST00000436978.1	+	12	2338		c.e12+2		PTPN13_ENST00000411767.2_Splice_Site|PTPN13_ENST00000427191.2_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site|PTPN13_ENST00000511467.1_Splice_Site	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCCTCAAAGGTACCAAGACAT	0.358000													15	19					0	0	0.002450	0	0
MMRN2	79812	broad.mit.edu	37	10	88696506	88696506	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88696506C>T	ENST00000372027.5	-	7	3165	c.2844G>A	c.(2842-2844)aaG>aaA	p.K948K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2		C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GGGTTCAGGTCTTAAACATCA	0.552000													87	65					0	0	0.014410	0	0
DUSP10	11221	broad.mit.edu	37	1	221875931	221875931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:221875931C>T	ENST00000366899.3	-	4	1510	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	DUSP10_ENST00000544095.1_Missense_Mutation_p.M82I|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_Missense_Mutation_p.M82I	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	424	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GAGTGTGCTTCATCAAGTAAG	0.507000													92	59					0	0	0.014410	0	0
NLRX1	79671	broad.mit.edu	37	11	119050897	119050897	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:119050897G>A	ENST00000409109.1	+	7	2754	c.2167G>A	c.(2167-2169)Gga>Aga	p.G723R	NLRX1_ENST00000292199.2_Missense_Mutation_p.G723R|NLRX1_ENST00000525863.1_Missense_Mutation_p.G723R|NLRX1_ENST00000409991.1_Missense_Mutation_p.G723R|NLRX1_ENST00000409265.4_Missense_Mutation_p.G723R	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	723	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCAGCGGAAGGCATGC	0.637000													13	24					0	0	0.002450	0	0
NRAP	4892	broad.mit.edu	37	10	115402797	115402797	+	Splice_Site	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:115402797C>A	ENST00000369358.4	-	12	1355	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	NRAP_ENST00000359988.3_Splice_Site_p.V371L|NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369360.3_Intron			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	371						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTATACTCCACCTTGGAAATC	0.388000													26	85					1.66031e-10	1.73277e-10	0.003954	1	0
OR51D1	390038	broad.mit.edu	37	11	4661061	4661061	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:4661061C>G	ENST00000357605.2	+	1	117	c.41C>G	c.(40-42)tCa>tGa	p.S14*		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCCACTTCAAATGGAAAT	0.473000													29	145					0	0	0.009535	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055453	9055453	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:9055453C>G	ENST00000383836.3	-	16	2314	c.1887G>C	c.(1885-1887)gtG>gtC	p.V629V	SRGAP3_ENST00000360413.3_Silent_p.V605V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	629	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATCTCATGACCACAATGACCA	0.552000			T	RAF1	pilocytic astrocytoma								6	111					0	0	0.004482	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905595	139905595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:139905595C>T	ENST00000297183.6	+	26	4631	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1503S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1503S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTTCCCATAGAACC	0.358000													24	76					0	0	0.002780	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904551	73904551	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73904551C>T	ENST00000342056.2	+	15	2668	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	KCNQ5_ENST00000370398.1_Missense_Mutation_p.T738M|KCNQ5_ENST00000403813.2_Missense_Mutation_p.T729M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.T739M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.T748M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.T738M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.T628M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	738					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAAATAAATACGGCACCCAAG	0.532000													20	22					0	0	0.014323	0	0
YIPF5	81555	broad.mit.edu	37	5	143549462	143549462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:143549462C>T	ENST00000274496.5	-	2	192	c.58G>A	c.(58-60)Gat>Aat	p.D20N	YIPF5_ENST00000513112.1_Intron|YIPF5_ENST00000448443.2_Missense_Mutation_p.D20N	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	20					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTGACTGATCATCGATGCTG	0.358000													82	55					0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49079298	49079298	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:49079298C>T	ENST00000376265.2	-	16	2180		c.e16-1		CACNA1F_ENST00000480889.1_Splice_Site|CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTGTCAGGATCTGGGGGTGGG	0.547000													18	26					0	0	0.007413	0	0
CHSY1	22856	broad.mit.edu	37	15	101718244	101718244	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101718244C>T	ENST00000254190.3	-	3	2233	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	586					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTCTCATCAGTTCAACTT	0.478000													16	45					0	0	0.003163	0	0
RBP7	116362	broad.mit.edu	37	1	10067689	10067689	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:10067689G>A	ENST00000294435.7	+	2	178	c.135G>A	c.(133-135)caG>caA	p.Q45Q		NM_052960.2	NP_443192.1	Q96R05	RET7_HUMAN	retinol binding protein 7, cellular	45						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGATTGAGCAGAATGGGGATT	0.368000													20	62					0	0	0.008871	0	0
AGR2	10551	broad.mit.edu	37	7	16840963	16840963	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:16840963G>A	ENST00000419304.2	-	3	336	c.184C>T	c.(184-186)Cta>Tta	p.L62L	AGR2_ENST00000419572.2_Silent_p.L82L|AGR2_ENST00000401412.1_Silent_p.L62L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	62					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GATTTATATAGAGCTTCTTCA	0.388000													14	55					0	0	0.002450	0	0
FAM179B	23116	broad.mit.edu	37	14	45468596	45468596	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:45468596C>G	ENST00000361462.2	+	3	2417	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	FAM179B_ENST00000382233.2_Missense_Mutation_p.S745C|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.S745C			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	745							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACAAATCTTTCTGGGAAATGT	0.353000													13	102					0	0	0.002450	0	0
SIRPG	55423	broad.mit.edu	37	20	1629746	1629746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:1629746C>T	ENST00000381580.1	-	2	462	c.283G>A	c.(283-285)Gag>Aag	p.E95K	SIRPG_ENST00000303415.3_Missense_Mutation_p.E128K|SIRPG_ENST00000344103.4_Missense_Mutation_p.E128K|SIRPG_ENST00000216927.4_Missense_Mutation_p.E128K|SIRPG_ENST00000381583.2_Missense_Mutation_p.E128K			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	128	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TCCACGTTCTCAGGGCTCCCT	0.488000													47	164					0	0	0.014410	0	0
ELP2	55250	broad.mit.edu	37	18	33722249	33722249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:33722249G>C	ENST00000358232.6	+	7	657	c.594G>C	c.(592-594)caG>caC	p.Q198H	ELP2_ENST00000350494.6_Missense_Mutation_p.Q237H|ELP2_ENST00000442325.2_Missense_Mutation_p.Q263H|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000542824.1_Missense_Mutation_p.Q172H|ELP2_ENST00000351393.6_Missense_Mutation_p.Q172H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	198					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ACTAGTTTCAGAAAGTGCTTT	0.398000													30	60					0	0	0.008361	0	0
UBR4	23352	broad.mit.edu	37	1	19510379	19510379	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:19510379C>T	ENST00000375267.2	-	17	2113	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	UBR4_ENST00000375217.2_Missense_Mutation_p.E704K|UBR4_ENST00000375226.2_Missense_Mutation_p.E704K|UBR4_ENST00000375254.3_Missense_Mutation_p.E704K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	704					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCAAACTCTTCATCTGATGAA	0.443000													15	41					0	0	0.003163	0	0
TACC3	10460	broad.mit.edu	37	4	1746259	1746259	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:1746259G>A	ENST00000313288.4	+	14	2344	c.2238G>A	c.(2236-2238)ctG>ctA	p.L746L		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	746						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGAGTCACTGAAGAAGTGCG	0.607000													9	55					0	0	0.006214	0	0
PCDH17	27253	broad.mit.edu	37	13	58208221	58208221	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:58208221C>T	ENST00000377918.3	+	1	1567	c.1541C>T	c.(1540-1542)tCg>tTg	p.S514L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S514L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCCTGCCCTCGCACATCGGC	0.592000													23	19					0	0	0.003330	0	0
PABPC4	8761	broad.mit.edu	37	1	40041525	40041525	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:40041525G>A	ENST00000372857.3	-	1	891	c.99C>T	c.(97-99)ccC>ccT	p.P33P	PABPC4_ENST00000372856.3_Silent_p.P33P|PABPC4_ENST00000372858.3_Silent_p.P33P|PABPC4_ENST00000372862.3_Silent_p.P33P	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	33	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGGCCCCGCGGGGCTGAACT	0.647000													6	17					0	0	0.001984	0	0
CYC1	1537	broad.mit.edu	37	8	145151087	145151087	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145151087C>T	ENST00000318911.4	+	3	460	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	129	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGACTTCGTGGCCTACC	0.612000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	202					0	0	0.014410	0	0
MATR3	9782	broad.mit.edu	37	5	138661216	138661216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:138661216G>T	ENST00000394800.2	+	17	2929	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*	MATR3_ENST00000394805.3_Nonsense_Mutation_p.E746*|MATR3_ENST00000504203.1_Nonsense_Mutation_p.E408*|MATR3_ENST00000510056.1_Nonsense_Mutation_p.E746*|MATR3_ENST00000361059.2_Nonsense_Mutation_p.E746*|MATR3_ENST00000502929.1_Nonsense_Mutation_p.E794*|MATR3_ENST00000509990.1_Nonsense_Mutation_p.E746*|MATR3_ENST00000502499.1_Nonsense_Mutation_p.E408*|MATR3_ENST00000503811.1_Nonsense_Mutation_p.E458*			P43243	MATR3_HUMAN	matrin 3	746						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.E182Q(1)|p.E746Q(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACCAGGTGCTGAATCTTCTGA	0.408000													18	55					1.33834e-09	1.39207e-09	0.007413	1	0
IQSEC1	9922	broad.mit.edu	37	3	12950806	12950806	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:12950806C>T	ENST00000273221.4	-	11	2803	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	863	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTGGACTTCCGCAATGGAC	0.537000													68	174					0	0	0.014410	0	0
TRABD2A	129293	broad.mit.edu	37	2	85108116	85108116	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85108116G>C	ENST00000335459.5	-	1	253	c.48C>G	c.(46-48)ccC>ccG	p.P16P	TRABD2A_ENST00000409520.2_Silent_p.P16P|TRABD2A_ENST00000409133.1_Silent_p.P16P	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CTGCGCCCGTGGGCAGGAGGC	0.711000													7	3					0	0	0.004482	0	0
RCAN1	1827	broad.mit.edu	37	21	35895867	35895867	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:35895867G>C	ENST00000481448.1	-	3	850	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.L132V|RCAN1_ENST00000399272.1_Missense_Mutation_p.L51V|RCAN1_ENST00000381132.2_Missense_Mutation_p.L77V|RCAN1_ENST00000492600.1_Missense_Mutation_p.L77V|RCAN1_ENST00000381135.3_Missense_Mutation_p.L122V|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_5'UTR			P53805	RCAN1_HUMAN	regulator of calcineurin 1	132					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TCCTTTCCCAGAAACTCAGTC	0.453000													32	53					0	0	0.010818	0	0
POLE	5426	broad.mit.edu	37	12	133226443	133226443	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:133226443C>T	ENST00000320574.5	-	30	3658	c.3615G>A	c.(3613-3615)ccG>ccA	p.P1205P	POLE_ENST00000535270.1_Silent_p.P1178P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1205					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTTGGCCTCGGACTGTCTT	0.587000								DNA polymerases (catalytic subunits)					11	34					0	0	0.008291	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139083368	139083368	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:139083368G>A	ENST00000354926.4	+	3	534	c.180G>A	c.(178-180)ctG>ctA	p.L60L	C7orf55-LUC7L2_ENST00000263545.6_Silent_p.L59L|C7orf55-LUC7L2_ENST00000541170.3_Silent_p.L57L|LUC7L2_ENST00000541515.3_Silent_p.L126L	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2																					GAGAATGTCTGAAAGTCCATG	0.318000													49	52					0	0	0.014410	0	0
MYH9	4627	broad.mit.edu	37	22	36690984	36690984	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:36690984C>T	ENST00000216181.5	-	27	3854	c.3624G>A	c.(3622-3624)acG>acA	p.T1208T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1208					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCACCCGCTTCGTCTGCTCCA	0.662000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				31	74					0	0	0.013726	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773891	100773891	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100773891G>A	ENST00000223095.4	+	3	618	c.461G>A	c.(460-462)aGa>aAa	p.R154K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R139K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	154					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GAGGTGGAGAGAGCCAGATTC	0.527000													120	124					0	0	0.014410	0	0
EDN2	1907	broad.mit.edu	37	1	41949827	41949827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:41949827G>A	ENST00000372587.4	-	2	181	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	EDN2_ENST00000490783.1_Intron	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	38					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTGGGCATGAGATGAGGAC	0.627000													12	22					0	0	0.013537	0	0
CHPT1	56994	broad.mit.edu	37	12	102091702	102091702	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:102091702G>A	ENST00000549872.1	+	1	253	c.63G>A	c.(61-63)ctG>ctA	p.L21L	CHPT1_ENST00000550385.1_Intron|CHPT1_ENST00000229266.3_Silent_p.L21L			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	21					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGAGCCGCTGAGCGCGGCGC	0.791000													4	1					0	0	0.009096	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305506	99305506	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99305506G>C	ENST00000336374.2	-	12	1347	c.1345C>G	c.(1345-1347)Ctc>Gtc	p.L449V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	449					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ATGTTCACGAGAGCAAACCTC	0.403000													112	110					0	0	0.014410	0	0
KRT31	3881	broad.mit.edu	37	17	39551521	39551521	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39551521G>A	ENST00000251645.2	-	5	904	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	284	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.607000													24	80					0	0	0.003954	0	0
PTCD1	26024	broad.mit.edu	37	7	99021515	99021515	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:99021515C>A	ENST00000292478.4	-	7	2053	c.1803G>T	c.(1801-1803)ctG>ctT	p.L601L	PTCD1_ENST00000555673.1_Silent_p.L650L|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L650L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGGTGTAGTTCAGCTTCCTGA	0.527000													26	71					7.92952e-12	8.30348e-12	0.003954	1	0
BIRC6	57448	broad.mit.edu	37	2	32743450	32743450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:32743450C>T	ENST00000421745.2	+	56	11613	c.11479C>T	c.(11479-11481)Cag>Tag	p.Q3827*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3827					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATGTTTCTTCAGTCTCCATG	0.368000													15	79					0	0	0.003163	0	0
MACF1	23499	broad.mit.edu	37	1	39919397	39919397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:39919397G>C	ENST00000564288.1	+	88	21538	c.20761G>C	c.(20761-20763)Gaa>Caa	p.E6921Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E4862Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E4862Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6958Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E4862Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E6820Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5364Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4732Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6931					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)			GAAGAAAGTAGAAGAAAAGCG	0.413000													92	84					0	0	0.014410	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178554964	178554964	+	Silent	SNP	G	G	A	rs145016043	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:178554964G>A	ENST00000251582.7	-	17	2714	c.2613C>T	c.(2611-2613)ggC>ggT	p.G871G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	871	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTCACCTCCGCCACAGGGCT	0.627000													27	75					0	0	0.006320	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33641932	33641932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:33641932C>T	ENST00000504830.1	-	11	2036	c.1701G>A	c.(1699-1701)agG>agA	p.R567R	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.R567R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	567	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTTGCAGAGCCTCTCTGCGC	0.592000										HNSCC(64;0.19)			19	54					0	0	0.010504	0	0
WFDC13	164237	broad.mit.edu	37	20	44330765	44330765	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44330765G>A	ENST00000305479.2	+	1	111	c.3G>A	c.(1-3)atG>atA	p.M1I	WFDC10B_ENST00000330523.5_Intron|WFDC10B_ENST00000335769.2_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	1						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				CTGACACCATGAAGCCTGTGC	0.567000													6	15					0	0	0.001168	0	0
DUS1L	64118	broad.mit.edu	37	17	80019230	80019230	+	Splice_Site	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80019230C>G	ENST00000354321.7	-	7	1183		c.e7-1		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)						tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGGTTGCCCTCTGTGGGAGGA	0.667000													5	24					0	0	0.001168	0	0
WWC3	55841	broad.mit.edu	37	X	10104698	10104698	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:10104698C>T	ENST00000380861.4	+	20	3180	c.2789C>T	c.(2788-2790)tCa>tTa	p.S930L	WWC3_ENST00000454666.1_Missense_Mutation_p.S930L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	930										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCGACAGTTCAACGCTGCCC	0.443000													13	32					0	0	0.001855	0	0
SEPT10	151011	broad.mit.edu	37	2	110332307	110332307	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:110332307C>T	ENST00000356688.4	-	5	766	c.451G>A	c.(451-453)Gag>Aag	p.E151K	SEPT10_ENST00000415095.1_Missense_Mutation_p.E151K|SEPT10_ENST00000397714.2_Missense_Mutation_p.E128K|SEPT10_ENST00000437928.1_Missense_Mutation_p.E136K|SEPT10_ENST00000397712.2_Missense_Mutation_p.E151K|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000334001.6_Missense_Mutation_p.E18K			Q9P0V9	SEP10_HUMAN	septin 10	151					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						AGATAGGCCTCAAACTGAGCA	0.378000													49	67					0	0	0.014410	0	0
MEN1	4221	broad.mit.edu	37	11	64571923	64571923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64571923C>T	ENST00000337652.1	-	10	2234	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	MEN1_ENST00000315422.4_Silent_p.S572S|MEN1_ENST00000443283.1_Silent_p.S577S|MEN1_ENST00000377316.2_Silent_p.S517S|MEN1_ENST00000377326.3_Silent_p.S572S|MEN1_ENST00000377321.1_Silent_p.S537S|MEN1_ENST00000377313.1_Silent_p.S577S|MEN1_ENST00000394376.1_Silent_p.S577S|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Silent_p.S577S|MEN1_ENST00000312049.6_Silent_p.S572S	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	577					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.S573_A574del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGATGGCGCTCGAGTTGATCT	0.562000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				148	159					0	0	0.014410	0	0
CASQ1	844	broad.mit.edu	37	1	160163575	160163575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160163575G>C	ENST00000368079.3	+	3	660	c.385G>C	c.(385-387)Gat>Cat	p.D129H	CASQ1_ENST00000368078.3_Missense_Mutation_p.D135H	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	135						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTCAAGGGAGATGAAGTCAT	0.532000													17	82					0	0	0.010504	0	0
MSI2	124540	broad.mit.edu	37	17	55693406	55693406	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55693406T>C	ENST00000284073.2	+	9	822	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000579180.1_Missense_Mutation_p.Y101H|MSI2_ENST00000442934.2_Missense_Mutation_p.Y144H|MSI2_ENST00000416426.2_Missense_Mutation_p.Y183H|MSI2_ENST00000322684.3_Missense_Mutation_p.Y201H	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	205						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGGACTGCCTTACACCATGGA	0.562000			T	HOXA9	CML								36	106					0	0	0.006230	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213045	43213045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:43213045G>A	ENST00000236040.4	-	14	1993	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	LEPRE1_ENST00000296388.5_Silent_p.F651F|LEPRE1_ENST00000397054.3_Silent_p.F651F|LEPRE1_ENST00000462474.1_5'UTR	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	651	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCTGAAGAGAATCCCACGG	0.592000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	50					0	0	0.007413	0	0
IL9R	3581	broad.mit.edu	37	X	155232652	155232652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:155232652G>A	ENST00000424344.3	+	3	414	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	IL9R_ENST00000369423.2_Missense_Mutation_p.C84Y|IL9R_ENST00000540897.1_Missense_Mutation_p.C74Y|IL9R_ENST00000244174.5_Missense_Mutation_p.C37Y			Q01113	IL9R_HUMAN	interleukin 9 receptor	37					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCTGTGTCTGCTTGGGAGTC	0.597000													24	56					0	0	0.003330	0	0
GPR110	266977	broad.mit.edu	37	6	46977464	46977464	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:46977464G>A	ENST00000371253.2	-	11	1922	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	GPR110_ENST00000283297.5_Silent_p.F372F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	569	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCAATATGGAGAAGGAGGTCA	0.448000													16	67					0	0	0.004990	0	0
TBC1D19	55296	broad.mit.edu	37	4	26750122	26750122	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:26750122G>A	ENST00000264866.4	+	19	1687	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	TBC1D19_ENST00000511789.1_Missense_Mutation_p.G405E	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	470	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGAATCCTAGGATACAACTCT	0.383000													65	132					0	0	0.014410	0	0
RGS12	6002	broad.mit.edu	37	4	3424704	3424704	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3424704C>T	ENST00000336727.3	+	12	4010	c.3106C>T	c.(3106-3108)Cgg>Tgg	p.R1036W	RGS12_ENST00000306648.7_Splice_Site_p.R434W|RGS12_ENST00000344733.5_Splice_Site_p.R1036W|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Splice_Site_p.R1036W|RGS12_ENST00000338806.4_Splice_Site_p.R388W|RGS12_ENST00000538395.1_Splice_Site_p.R378W	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1036	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCTTGTTTCGGTAAGAGGA	0.582000													7	35					0	0	0.003080	0	0
LINS	55180	broad.mit.edu	37	15	101115276	101115276	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:101115276C>T	ENST00000314742.8	-	4	769	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LINS_ENST00000560133.1_Missense_Mutation_p.E64K|LINS_ENST00000561308.1_Missense_Mutation_p.E183K|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	183										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTATTACTCTCAGAGTATTCA	0.313000													31	88					0	0	0.008361	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457910	6457910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:6457910C>T	ENST00000358945.3	-	12	2118	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	SCNN1A_ENST00000360168.3_Missense_Mutation_p.E597K|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E561K|SCNN1A_ENST00000228916.2_Missense_Mutation_p.E538K|SCNN1A_ENST00000540037.1_Missense_Mutation_p.E238K			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	538					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGGGAGACTCAGAATTGGTT	0.522000													25	42					0	0	0.002780	0	0
JAM3	83700	broad.mit.edu	37	11	134014688	134014688	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134014688G>A	ENST00000299106.4	+	5	570	c.411G>A	c.(409-411)gtG>gtA	p.V137V	JAM3_ENST00000441717.3_Splice_Site_p.V86V|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Splice_Site_p.V182V			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	137					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCCCACAGTGAAGCCAGTGA	0.537000													19	48					0	0	0.008871	0	0
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:45266717G>A	ENST00000372201.4	+	3	567	c.328G>A	c.(328-330)Gag>Aag	p.E110K	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	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)					GATCCTAAATGAGATTGAGCT	0.587000													10	15					0	0	0.006214	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808405	93808405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93808405G>A	ENST00000315765.9	+	9	1578	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	524	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACAGTGCCTGAGAGCGTAAG	0.468000													12	21					0	0	0.013537	0	0
FNDC1	84624	broad.mit.edu	37	6	159677606	159677606	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:159677606C>G	ENST00000297267.9	+	18	5317	c.5117C>G	c.(5116-5118)tCc>tGc	p.S1706C	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1643C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1706	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AACAAGTGGTCCACTCAAGCT	0.433000													65	168					0	0	0.014410	0	0
VAV1	7409	broad.mit.edu	37	19	6829860	6829860	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6829860C>T	ENST00000304076.2	+	14	1423	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	VAV1_ENST00000602142.1_Silent_p.L443L|VAV1_ENST00000599806.1_Silent_p.L388L|VAV1_ENST00000539284.1_Silent_p.L346L|VAV1_ENST00000596764.1_Silent_p.L411L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	443	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGACCTCAAGGACTTTG	0.532000													23	86					0	0	0.003330	0	0
C2orf49	79074	broad.mit.edu	37	2	105959589	105959589	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105959589C>T	ENST00000258457.2	+	3	780	c.551C>T	c.(550-552)tCa>tTa	p.S184L	C2orf49_ENST00000437250.2_Missense_Mutation_p.S180L|C2orf49_ENST00000410049.1_Missense_Mutation_p.S142L			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	184						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AAAAGTCCTTCAGGCCCTGTG	0.443000													40	73					0	0	0.005524	0	0
CARD6	84674	broad.mit.edu	37	5	40853853	40853853	+	Missense_Mutation	SNP	C	C	T	rs34452222		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:40853853C>T	ENST00000254691.5	+	3	2618	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	807					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGAGTTGCTCGGGGATGTCA	0.473000													87	300					0	0	0.014410	0	0
MUC1	4582	broad.mit.edu	37	1	155161824	155161824	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:155161824G>A	ENST00000368395.1	-	2	380	c.309C>T	c.(307-309)gtC>gtT	p.V103V	MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000438413.1_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	883						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGGCCTGGTGACTGGGACCG	0.697000			T	IGH@	B-NHL								9	50					0	0	0.004482	0	0
CDHR5	53841	broad.mit.edu	37	11	617418	617418	+	Missense_Mutation	SNP	T	T	A	rs76054644		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:617418T>A	ENST00000358353.3	-	16	2793	c.2471A>T	c.(2470-2472)gAg>gTg	p.E824V	CDHR5_ENST00000349570.7_Missense_Mutation_p.E630V|CDHR5_ENST00000397542.2_Missense_Mutation_p.E824V			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCCCTCGCCCTCATCGCCGCT	0.692000													4	11					0	0	0.000602	0	0
TAF10	6881	broad.mit.edu	37	11	6632654	6632654	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6632654C>T	ENST00000299424.4	-	3	894	c.417G>A	c.(415-417)ctG>ctA	p.L139L	TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	139					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCACGGTTCAGGTAGTAAC	0.502000													18	15					0	0	0.007413	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332454	71332454	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71332454C>T	ENST00000242462.4	-	2	375	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	116	Helix-loop-helix motif.				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						AGCTTCGCGTCGTCTGGGAAG	0.622000													7	21					0	0	0.001984	0	0
CDH4	1002	broad.mit.edu	37	20	60448896	60448896	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60448896G>T	ENST00000360469.5	+	7	1078	c.990G>T	c.(988-990)atG>atT	p.M330I	CDH4_ENST00000543233.1_Missense_Mutation_p.M256I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	330	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCAGAATATGTTCACCATCA	0.642000													22	85					1.64293e-13	1.72457e-13	0.003330	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885315	88885315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:88885315C>G	ENST00000319675.3	-	1	981	c.885G>C	c.(883-885)aaG>aaC	p.K295N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	295										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTCCCACAGCTTGATAGTTC	0.493000													12	81					0	0	0.010729	0	0
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	A	rs144975421	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:3964647G>A	ENST00000545797.2	-	3	648	c.405C>T	c.(403-405)atC>atT	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642000													20	59					0	0	0.014323	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843259	73843259	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:73843259G>A	ENST00000342056.2	+	11	1818	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	KCNQ5_ENST00000370398.1_Missense_Mutation_p.E455K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E446K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E456K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E465K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E455K|KCNQ5_ENST00000414165.2_Intron	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	455					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CATCACAGCCGAGGGCAGTCC	0.592000													22	68					0	0	0.014323	0	0
IRS1	3667	broad.mit.edu	37	2	227662785	227662785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:227662785C>T	ENST00000305123.5	-	1	1690	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGCCCACCTCGATGAAGAAG	0.607000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	27					0	0	0.007413	0	0
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9325375G>C	ENST00000308682.2	-	1	167	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTGACGGCCAGAATGATGAGC	0.557000													14	56					0	0	0.002450	0	0
PROM2	150696	broad.mit.edu	37	2	95940456	95940456	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:95940456C>T	ENST00000317620.9	+	1	256	c.123C>T	c.(121-123)ttC>ttT	p.F41F	PROM2_ENST00000542147.1_Silent_p.F41F|PROM2_ENST00000403131.2_Silent_p.F41F|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Silent_p.F41F	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	41						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACCTGACATTCACCCCAGCAG	0.697000													42	147					0	0	0.013114	0	0
SPEN	23013	broad.mit.edu	37	1	16259289	16259289	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:16259289C>T	ENST00000375759.3	+	11	6758	c.6554C>T	c.(6553-6555)tCt>tTt	p.S2185F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2185	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAGGCCTCTGCCTCTGCT	0.622000													57	62					0	0	0.014410	0	0
GNAI3	2773	broad.mit.edu	37	1	110129467	110129467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:110129467G>C	ENST00000369851.4	+	7	947	c.837G>C	c.(835-837)aaG>aaC	p.K279N		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	279					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AAAAAATAAAGAGGAGTCCGT	0.348000													28	69					0	0	0.004656	0	0
SDAD1	55153	broad.mit.edu	37	4	76895235	76895235	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76895235G>A	ENST00000356260.5	-	7	748	c.630C>T	c.(628-630)gtC>gtT	p.V210V	SDAD1_ENST00000395711.4_Silent_p.V173V	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	210					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCACCTTGGTGACCTTAGAGA	0.418000													24	65					0	0	0.003330	0	0
ZNF704	619279	broad.mit.edu	37	8	81582772	81582772	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:81582772C>T	ENST00000327835.3	-	5	856	c.625G>A	c.(625-627)Ggt>Agt	p.G209S	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	209						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTCTGGATACCTGCTGCAGTG	0.507000													28	161					0	0	0.007291	0	0
PRMT6	55170	broad.mit.edu	37	1	107600219	107600219	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:107600219G>A	ENST00000361318.5	+	1	953	c.705G>A	c.(703-705)gtG>gtA	p.V235V	PRMT6_ENST00000370078.1_Silent_p.V294V	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	294					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GGTTCCAGGTGACCTTCCCTG	0.652000													20	10					0	0	0.008871	0	0
SRRT	51593	broad.mit.edu	37	7	100478981	100478981	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100478981C>T	ENST00000388793.4	+	3	418	c.198C>T	c.(196-198)ttC>ttT	p.F66F	SRRT_ENST00000457580.2_Silent_p.F66F|SRRT_ENST00000347433.4_Silent_p.F66F|SRRT_ENST00000432932.1_Silent_p.F66F	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	66	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGAGCGCTTCTCGCCACCTC	0.597000													23	34					0	0	0.004656	0	0
MCL1	4170	broad.mit.edu	37	1	150550774	150550774	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150550774G>A	ENST00000369026.2	-	2	941	c.882C>T	c.(880-882)atC>atT	p.I294I	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	294					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTCTGTGATACTTTCTG	0.453000													34	266					0	0	0.008740	0	0
ATP10D	57205	broad.mit.edu	37	4	47578955	47578955	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47578955C>G	ENST00000273859.3	+	19	3801	c.3532C>G	c.(3532-3534)Ctg>Gtg	p.L1178V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1178					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTCATGCAACTGCCTGAACT	0.438000													29	119					0	0	0.006320	0	0
SSNA1	8636	broad.mit.edu	37	9	140083657	140083657	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140083657G>A	ENST00000322310.5	+	2	272	c.192G>A	c.(190-192)aaG>aaA	p.K64K	SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	64					G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		TGGCACGCAAGATTGCCTCTC	0.642000													4	25					0	0	0.000602	0	0
KNTC1	9735	broad.mit.edu	37	12	123089504	123089504	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123089504C>G	ENST00000333479.7	+	50	5433	c.5256C>G	c.(5254-5256)ctC>ctG	p.L1752L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.L177L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1752					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAGCTGTGCTCATAGCCCACA	0.438000													10	13					0	0	0.008291	0	0
USPL1	10208	broad.mit.edu	37	13	31211905	31211905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:31211905C>T	ENST00000255304.4	+	5	1235	c.893C>T	c.(892-894)tCa>tTa	p.S298L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	298					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAACTTACCTCAGAAATATTT	0.348000													33	85					0	0	0.009535	0	0
EIF6	3692	broad.mit.edu	37	20	33872046	33872046	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33872046G>A	ENST00000374443.3	-	2	294	c.245C>T	c.(244-246)tCt>tTt	p.S82F	EIF6_ENST00000374436.3_Silent_p.L42L|EIF6_ENST00000374450.3_Silent_p.L42L|EIF6_ENST00000462894.1_5'UTR	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	88					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGTATCGGAGAGCTCGCCCT	0.677000													14	56					0	0	0.003163	0	0
EIF5B	9669	broad.mit.edu	37	2	99976974	99976974	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:99976974C>G	ENST00000289371.6	+	3	410	c.208C>G	c.(208-210)Caa>Gaa	p.Q70E		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGAAGCTCAAGGCATCAA	0.348000													19	44					0	0	0.007413	0	0
PRDM2	7799	broad.mit.edu	37	1	14105194	14105194	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:14105194G>A	ENST00000235372.7	+	8	1760	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	PRDM2_ENST00000311066.5_Missense_Mutation_p.E302K|PRDM2_ENST00000413440.1_Missense_Mutation_p.E101K|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E101K|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	302	Retinoblastoma protein binding.					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)		CATGCCAAATGAAAATTCTGT	0.433000													21	72					0	0	0.008871	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680837	106680837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:106680837G>A	ENST00000526355.2	-	5	2042	c.1574C>T	c.(1573-1575)tCa>tTa	p.S525L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S525L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S546L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2		Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AACAATGTCTGAAAAGAGCAT	0.453000													18	41					0	0	0.006122	0	0
LAMA2	3908	broad.mit.edu	37	6	129796544	129796544	+	Silent	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129796544A>C	ENST00000421865.2	+	53	7498	c.7449A>C	c.(7447-7449)gcA>gcC	p.A2483A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2483	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTATGAAAGCAAGGTAAAATT	0.318000													10	33					0	0	0.008291	0	0
ZNF121	7675	broad.mit.edu	37	19	9677729	9677729	+	Silent	SNP	G	G	A	rs149905678		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:9677729G>A	ENST00000586602.1	-	6	476	c.60C>T	c.(58-60)ttC>ttT	p.F20F	ZNF121_ENST00000320451.6_Silent_p.F20F			P58317	ZN121_HUMAN	zinc finger protein 121	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AGTGTTCACTGAAGATTTCTC	0.383000													22	58					0	0	0.014323	0	0
USP38	84640	broad.mit.edu	37	4	144109040	144109040	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:144109040G>C	ENST00000307017.4	+	2	1250	c.744G>C	c.(742-744)atG>atC	p.M248I	USP38_ENST00000510377.1_Missense_Mutation_p.M248I	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	248					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CTCTTCAGATGATTACAGTTC	0.398000													19	45					0	0	0.006122	0	0
SLC12A7	10723	broad.mit.edu	37	5	1081819	1081819	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1081819C>T	ENST00000264930.5	-	9	1213	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	390					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTTCTTCTCCACAAACGCCC	0.652000													9	35					0	0	0.006214	0	0
BHLHE41	79365	broad.mit.edu	37	12	26277470	26277470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:26277470C>T	ENST00000242728.4	-	2	455	c.108G>A	c.(106-108)atG>atA	p.M36I		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	36					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CGTCTCGTTTCATGCTCCTTT	0.478000													35	19					0	0	0.003755	0	0
MALAT1	378938	broad.mit.edu	37	11	65270172	65270172	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65270172G>A	ENST00000534336.1	+	0	4940					NR_002819.2																						TAGATGCAGAGAAAACAGCTC	0.383000													30	33					0	0	0.009535	0	0
KLF15	28999	broad.mit.edu	37	3	126071555	126071555	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:126071555C>T	ENST00000296233.3	-	2	441	c.211G>A	c.(211-213)Gag>Aag	p.E71K	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	71						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TCCTGGCTCTCGGTGCCCAGG	0.652000													3	2					0	0	0.004672	0	0
CHD8	57680	broad.mit.edu	37	14	21862166	21862166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21862166C>T	ENST00000399982.2	-	31	5852	c.5788G>A	c.(5788-5790)Gat>Aat	p.D1930N	CHD8_ENST00000430710.3_Missense_Mutation_p.D1651N|CHD8_ENST00000557364.1_Missense_Mutation_p.D1930N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1930					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTCCCCATCATGCCGAACA	0.552000													14	20					0	0	0.001855	0	0
RAB23	51715	broad.mit.edu	37	6	57075078	57075078	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:57075078A>C	ENST00000317483.3	-	2	720	c.101T>G	c.(100-102)tTt>tGt	p.F34C	RAB23_ENST00000468148.1_Missense_Mutation_p.F34C	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	34					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTCTTTTGTAAAAATGCCTTT	0.373000													42	137					0	0	0.006999	0	0
TNIK	23043	broad.mit.edu	37	3	170786662	170786662	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:170786662G>A	ENST00000436636.2	-	30	4018	c.3674C>T	c.(3673-3675)tCt>tTt	p.S1225F	TNIK_ENST00000284483.8_Missense_Mutation_p.S1217F|TNIK_ENST00000369326.5_Missense_Mutation_p.S1203F|TNIK_ENST00000475336.1_Missense_Mutation_p.S1133F|TNIK_ENST00000357327.5_Missense_Mutation_p.S1196F|TNIK_ENST00000488470.1_Missense_Mutation_p.S1170F|TNIK_ENST00000538048.1_Missense_Mutation_p.S1177F|TNIK_ENST00000470834.1_Missense_Mutation_p.S1188F|TNIK_ENST00000341852.6_Missense_Mutation_p.S1141F|TNIK_ENST00000460047.1_Missense_Mutation_p.S1162F	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1225	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GATATCATAAGAGTTTCCTGA	0.378000													10	49					0	0	0.006214	0	0
FSCN2	25794	broad.mit.edu	37	17	79503670	79503670	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:79503670C>G	ENST00000417245.2	+	4	1264	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	FSCN2_ENST00000334850.7_Silent_p.L400L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	376					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGTTCACCCTCAAGCTCATCA	0.701000													2	2					0	0	0.000602	0	0
DACH1	1602	broad.mit.edu	37	13	72134058	72134058	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:72134058G>T	ENST00000305425.4	-	5	1757	c.1335C>A	c.(1333-1335)gcC>gcA	p.A445A	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Silent_p.A497A|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	495					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCAGAGAGGGGGCAGGTGAGG	0.542000													5	13					0.00116845	0.00118866	0.001168	1	0
MFSD7	84179	broad.mit.edu	37	4	676629	676629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:676629C>T	ENST00000322224.4	-	9	1515	c.1202G>A	c.(1201-1203)cGa>cAa	p.R401Q	MFSD7_ENST00000404286.2_Missense_Mutation_p.R402Q|MFSD7_ENST00000347950.5_Missense_Mutation_p.R283Q|MFSD7_ENST00000515118.1_Missense_Mutation_p.R305Q|MFSD7_ENST00000503156.1_Missense_Mutation_p.R337Q			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	402					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CTCCGAGCGTCGCACAGTCAG	0.652000													4	6					0	0	0.009096	0	0
SETD8	387893	broad.mit.edu	37	12	123868753	123868753	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:123868753G>A	ENST00000402868.3	+	1	434	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SETD8_ENST00000330479.4_Missense_Mutation_p.R3K			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	46					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GCCATGGCTAGAGGTATTTGC	0.662000													5	12					0	0	0.000602	0	0
SYT10	341359	broad.mit.edu	37	12	33592424	33592424	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:33592424G>A	ENST00000228567.3	-	1	330	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	12						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCTGGCACAGACTGTTCACT	0.552000													44	100					0	0	0.014410	0	0
TMEM145	284339	broad.mit.edu	37	19	42827892	42827892	+	Missense_Mutation	SNP	C	C	G	rs149140216		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42827892C>G	ENST00000301204.3	+	14	1393	c.1352C>G	c.(1351-1353)tCg>tGg	p.S451W		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	451						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ATCAGCGACTCGGTGCCCAAC	0.682000													11	46					0	0	0.010729	0	0
HEXA	3073	broad.mit.edu	37	15	72668266	72668266	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:72668266G>A	ENST00000268097.5	-	1	551	c.48C>T	c.(46-48)ttC>ttT	p.F16F	HEXA_ENST00000566304.1_Silent_p.F16F|HEXA_ENST00000567159.1_Silent_p.F16F|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	16					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCCGTCCTGCGAACGCTGCCG	0.627000													28	18					0	0	0.009535	0	0
PCDH19	57526	broad.mit.edu	37	X	99661856	99661856	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:99661856G>C	ENST00000373034.4	-	1	3415	c.1740C>G	c.(1738-1740)aaC>aaG	p.N580K	PCDH19_ENST00000420881.2_Missense_Mutation_p.N580K|PCDH19_ENST00000255531.7_Missense_Mutation_p.N580K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	580	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTATGCCAGAGTTGCGGGGTA	0.587000													17	12					0	0	0.006122	0	0
CENPT	80152	broad.mit.edu	37	16	67865789	67865789	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67865789C>G	ENST00000562787.1	-	8	939	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.E131Q|CENPT_ENST00000440851.2_Missense_Mutation_p.E131Q|CENPT_ENST00000219172.3_Missense_Mutation_p.E131Q|CENPT_ENST00000445712.2_Missense_Mutation_p.E28Q	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	131					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGTTGCAGCTCCAGGCTATAA	0.557000													6	13					0	0	0.001168	0	0
TASP1	55617	broad.mit.edu	37	20	13550189	13550189	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:13550189C>T	ENST00000337743.4	-	7	653	c.533G>A	c.(532-534)gGa>gAa	p.G178E	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	178					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGGGTATTCCATGATCTAC	0.333000													21	98					0	0	0.005443	0	0
GANAB	23193	broad.mit.edu	37	11	62406471	62406471	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62406471C>T	ENST00000346178.4	-	4	379	c.364G>A	c.(364-366)Gat>Aat	p.D122N	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.D25N|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.D122N	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	122					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						ATTGGTGGATCAGCCACCAAA	0.483000													20	28					0	0	0.007413	0	0
PGBD4	161779	broad.mit.edu	37	15	34395021	34395021	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:34395021G>A	ENST00000397766.2	+	1	748	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	97										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAGAAAAGTCGATGTCAGTGA	0.433000													36	33					0	0	0.013726	0	0
EPPK1	83481	broad.mit.edu	37	8	144940699	144940699	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144940699C>T	ENST00000525985.1	-	2	6794	c.6723G>A	c.(6721-6723)gaG>gaA	p.E2241E				P58107	EPIPL_HUMAN	epiplakin 1	2241						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTCATCTTCTCCTGGCGGC	0.697000													5	83					0	0	0.000602	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994197	57994197	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57994197G>C	ENST00000354947.5	+	7	806	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.E246Q|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.E264Q|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.E216Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	264	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AATATTTCTGGAGAAGCTGAA	0.403000													13	46					0	0	0.013537	0	0
IGHG4	3503	broad.mit.edu	37	14	106091497	106091497	+	RNA	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:106091497T>A	ENST00000390543.2	-	0	396																											GTCCGGGAGATCATGAGAGTG	0.597000													25	93					0	0	0.003954	0	0
FOXJ3	22887	broad.mit.edu	37	1	42671497	42671497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42671497C>T	ENST00000372572.1	-	8	877	c.566G>A	c.(565-567)gGa>gAa	p.G189E	FOXJ3_ENST00000361776.1_Intron|FOXJ3_ENST00000545068.1_Missense_Mutation_p.G189E|FOXJ3_ENST00000372573.1_Missense_Mutation_p.G189E|FOXJ3_ENST00000361346.1_Missense_Mutation_p.G189E	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	189					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACACTCCATTCCCAAAGAATC	0.318000													33	38					0	0	0.004289	0	0
BUB1B	701	broad.mit.edu	37	15	40505608	40505608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40505608G>A	ENST00000287598.6	+	20	2806	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E885K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	871	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GACAATAGTGGAGATGCTACA	0.378000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				28	74					0	0	0.005443	0	0
RNF32	140545	broad.mit.edu	37	7	156437437	156437437	+	Missense_Mutation	SNP	C	C	G	rs138495614		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:156437437C>G	ENST00000392741.2	+	2	348	c.260C>G	c.(259-261)cCg>cGg	p.P87R	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000405335.1_Missense_Mutation_p.P87R|RNF32_ENST00000317955.5_Missense_Mutation_p.P87R|RNF32_ENST00000392740.1_Missense_Mutation_p.P87R|RNF32_ENST00000432459.2_Missense_Mutation_p.P87R|RNF32_ENST00000392743.2_Missense_Mutation_p.P87R|RNF32_ENST00000311822.8_Missense_Mutation_p.P87R|RNF32_ENST00000343665.4_Missense_Mutation_p.P87R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	87						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CCCAAACCGCCGCCGTTGACT	0.348000													14	51					0	0	0.003163	0	0
IFNL3	282617	broad.mit.edu	37	19	39734518	39734518	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:39734518C>G	ENST00000413851.2	-	4	476	c.438G>C	c.(436-438)agG>agC	p.R146S		NM_172139.2	NP_742151.2			interferon, lambda 3																		GGCCCCGGGTCCTGGGCCCTG	0.687000													6	8					0	0	0.013537	0	0
ACP5	54	broad.mit.edu	37	19	11687879	11687879	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:11687879C>G	ENST00000592828.1	-	4	656	c.254G>C	c.(253-255)aGg>aCg	p.R85T	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R85T|ACP5_ENST00000218758.5_Missense_Mutation_p.R85T|ACP5_ENST00000433365.2_Missense_Mutation_p.R85T	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	85					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GACCTGGAACCTCTTGTCATT	0.562000													10	39					0	0	0.010729	0	0
AURKC	6795	broad.mit.edu	37	19	57743573	57743573	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:57743573G>C	ENST00000302804.7	+	3	463	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	AURKC_ENST00000415300.2_Missense_Mutation_p.E74Q|AURKC_ENST00000598785.1_Missense_Mutation_p.E59Q|AURKC_ENST00000448930.1_Missense_Mutation_p.E59Q|AURKC_ENST00000599062.1_Missense_Mutation_p.E90Q	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	93	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCGGGAAATTGAGATCCAGGC	0.507000													8	97					0	0	0.004482	0	0
PPEF2	5470	broad.mit.edu	37	4	76781894	76781894	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76781894C>T	ENST00000286719.7	-	17	2544	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	730					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCATCGCCCTCTGGGCAGGAT	0.507000													24	48					0	0	0.002780	0	0
NEK7	140609	broad.mit.edu	37	1	198288556	198288556	+	Silent	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:198288556T>G	ENST00000367385.4	+	10	1155	c.813T>G	c.(811-813)gtT>gtG	p.V271V	NEK7_ENST00000538004.1_Silent_p.V271V	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	271	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GACAGTTAGTTAATATGTGCA	0.383000													11	35					0	0	0.008291	0	0
MAN1A2	10905	broad.mit.edu	37	1	117910898	117910898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:117910898G>C	ENST00000356554.3	+	1	828	c.93G>C	c.(91-93)ttG>ttC	p.L31F	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	31					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GGGCTACCTTGAGACTTTCTG	0.493000													29	90					0	0	0.006320	0	0
MST1	4485	broad.mit.edu	37	3	49724697	49724697	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49724697A>T	ENST00000449682.2	-	5	853	c.492T>A	c.(490-492)aaT>aaA	p.N164K	MST1_ENST00000545762.1_Missense_Mutation_p.M112K|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.N89K	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	150	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTTCCAGGCCATTCCGGAGAG	0.612000													15	22					0	0	0.003163	0	0
ZNF507	22847	broad.mit.edu	37	19	32845546	32845546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:32845546G>A	ENST00000311921.4	+	2	2002	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	ZNF507_ENST00000544431.1_Missense_Mutation_p.D604N|ZNF507_ENST00000355898.5_Missense_Mutation_p.D604N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAACGCTTCAGACGATGACAT	0.468000													6	41					0	0	0.001984	0	0
DAPP1	27071	broad.mit.edu	37	4	100756843	100756843	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:100756843C>T	ENST00000296414.7	+	2	246	c.165C>T	c.(163-165)gaC>gaT	p.D55D	DAPP1_ENST00000512369.1_Silent_p.D55D			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	55	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		ATGGATGTGACGGCAGCTACC	0.547000													48	65					0	0	0.013114	0	0
HSF5	124535	broad.mit.edu	37	17	56565211	56565211	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56565211A>C	ENST00000323777.3	-	1	534	c.425T>G	c.(424-426)cTg>cGg	p.L142R		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	142						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCACCTCCAGGCCGGCCGC	0.726000													2	0					0	0	0.004672	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405538	23405538	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:23405538C>T	ENST00000418100.1	-	4	1626	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGTAGGGTTTCTCTCCAGTAT	0.373000													11	57					0	0	0.008291	0	0
DOT1L	84444	broad.mit.edu	37	19	2208972	2208972	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2208972C>T	ENST00000398665.3	+	12	1038	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCAAAACTCAGGGTAAGTT	0.443000													26	48					0	0	0.004656	0	0
WEE1	7465	broad.mit.edu	37	11	9597434	9597434	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9597434G>A	ENST00000299613.6	+	2	689		c.e2-1		WEE1_ENST00000450114.2_Splice_Site	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase						blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCTTTCCCTAGAGTTTGCTCT	0.413000													10	56					0	0	0.006214	0	0
FGF13	2258	broad.mit.edu	37	X	138286239	138286239	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:138286239C>T	ENST00000370603.3	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K	FGF13_ENST00000541469.1_Missense_Mutation_p.E11K			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCATCTTTCTCCTCTTTGGGC	0.622000													11	6					0	0	0.008291	0	0
OSTF1	26578	broad.mit.edu	37	9	77732450	77732450	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77732450C>T	ENST00000346234.6	+	2	215	c.65C>T	c.(64-66)aCg>aTg	p.T22M		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	22	SH3.				ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						GCCCTGTATACGTTTGAACCC	0.328000													14	96					0	0	0.002450	0	0
FZD1	8321	broad.mit.edu	37	7	90894810	90894810	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90894810C>T	ENST00000287934.2	+	1	1028	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	205	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGAACAAGTTCGGCTTCCAGT	0.692000													13	28					0	0	0.001855	0	0
S100A6	6277	broad.mit.edu	37	1	153507246	153507246	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:153507246C>T	ENST00000368720.2	-	4	501	c.199G>A	c.(199-201)Gag>Aag	p.E67K	BX470102.3_ENST00000420695.1_RNA|S100A6_ENST00000496817.1_Missense_Mutation_p.E67K|S100A6_ENST00000368719.4_Missense_Mutation_p.E67K			P06703	S10A6_HUMAN	S100 calcium binding protein A6	67	EF-hand 2.				axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGTTCACCTCCTGGTCCTTG	0.478000													112	95					0	0	0.014410	0	0
LYPLA1	10434	broad.mit.edu	37	8	54965251	54965251	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:54965251G>A	ENST00000316963.3	-	7	619	c.426C>T	c.(424-426)ctC>ctT	p.L142L	LYPLA1_ENST00000343231.6_Silent_p.L126L|LYPLA1_ENST00000522007.1_Intron	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	142					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GCCAGCAACTGAGTGCAGTGA	0.458000													8	46					0	0	0.006214	0	0
KMT2E	55904	broad.mit.edu	37	7	104752302	104752302	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:104752302C>G	ENST00000334877.4	+	26	4507	c.3973C>G	c.(3973-3975)Caa>Gaa	p.Q1325E	KMT2E_ENST00000311117.3_Missense_Mutation_p.Q1367E|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.Q422E|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1367E					lysine (K)-specific methyltransferase 2E																		AATTCCTGCTCAAGCACACGG	0.408000													13	60					0	0	0.002450	0	0
CUL5	8065	broad.mit.edu	37	11	107968457	107968457	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:107968457C>T	ENST00000393094.2	+	17	2616	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	667					cell cycle arrest|cell proliferation|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|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCCTCTTCTCAGTGAACCAG	0.348000													23	47					0	0	0.003330	0	0
LIPI	149998	broad.mit.edu	37	21	15561684	15561684	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:15561684C>T	ENST00000344577.2	-	2	191	c.166G>A	c.(166-168)Gat>Aat	p.D56N	LIPI_ENST00000536861.1_Missense_Mutation_p.D35N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	35					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAATCTCTGAAGGAA	0.353000													40	153					0	0	0.009718	0	0
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						20	118					0	0	0.007413	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608600	108608600	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:108608600G>A	ENST00000264047.2	+	3	493	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SLC5A7_ENST00000409059.1_Missense_Mutation_p.E73K|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	73					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGCACAGCTGAAGCAGTTTA	0.448000													34	53					0	0	0.003755	0	0
ARFRP1	10139	broad.mit.edu	37	20	62338434	62338434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:62338434G>C	ENST00000440854.1	-	2	147	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	ARFRP1_ENST00000359715.5_Missense_Mutation_p.L4V|ARFRP1_ENST00000324228.2_Missense_Mutation_p.L4V|ARFRP1_ENST00000607873.1_Intron|ARFRP1_ENST00000609142.1_Missense_Mutation_p.L4V	NM_001134758.2|NM_001267544.1|NM_001267545.1|NM_001267547.1|NM_001267549.1|NM_003224.4	NP_001128230.1|NP_001254473.1|NP_001254474.1|NP_001254476.1|NP_001254478.1|NP_003215.1	Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	4					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCCGACAGCAGCGTGTACATC	0.612000													5	7					0	0	0.001984	0	0
ZNF347	84671	broad.mit.edu	37	19	53656992	53656992	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:53656992G>A	ENST00000452676.2	-	2	435	c.9C>T	c.(7-9)ctC>ctT	p.L3L	ZNF347_ENST00000601804.1_5'UTR|ZNF347_ENST00000601469.2_Silent_p.L3L|ZNF347_ENST00000334197.7_Silent_p.L3L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TTACCTGGGTGAGAGCCATGC	0.398000													28	238					0	0	0.010818	0	0
HSPG2	3339	broad.mit.edu	37	1	22173050	22173050	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:22173050G>A	ENST00000374695.3	-	63	8286	c.8207C>T	c.(8206-8208)tCa>tTa	p.S2736L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2736	Ig-like C2-type 13.				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)	GGCCACGTGTGAGGAGGATGA	0.622000													18	67					0	0	0.006122	0	0
ZXDA	7789	broad.mit.edu	37	X	57935505	57935505	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:57935505G>A	ENST00000358697.4	-	1	1562	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	450	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGTCACAAAGGAAAGGTCTCT	0.512000													17	24					0	0	0.010504	0	0
SDR9C7	121214	broad.mit.edu	37	12	57328012	57328012	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57328012G>A	ENST00000293502.1	-	1	177	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	12						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTGAACCAGCGATACATAAAT	0.547000													10	52					0	0	0.006214	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197670	142197670	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:142197670G>A	ENST00000471935.1	-	0	307																											GCAGAAAATCGATCCTTAGGC	0.498000													30	84					0	0	0.007291	0	0
NOL4	8715	broad.mit.edu	37	18	31523073	31523073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:31523073C>T	ENST00000261592.5	-	9	1795	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	NOL4_ENST00000538587.1_Missense_Mutation_p.E426K|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.E215K|NOL4_ENST00000535475.1_Missense_Mutation_p.E281K|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	500						nucleolus	RNA binding	p.E500*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTCTACTCTCACTCTCACAA	0.428000													21	32					0	0	0.010504	0	0
CMTR1	23070	broad.mit.edu	37	6	37419600	37419600	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:37419600G>C	ENST00000373451.4	+	6	720	c.556G>C	c.(556-558)Gat>Cat	p.D186H		NM_015050.2	NP_055865.1			cap methyltransferase 1	186																	GATTATTGAAGATGAAACAGA	0.423000													22	62					0	0	0.002780	0	0
CHST14	113189	broad.mit.edu	37	15	40763862	40763862	+	Silent	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:40763862C>G	ENST00000306243.5	+	1	703	c.450C>G	c.(448-450)ctC>ctG	p.L150L	CHST14_ENST00000559991.1_Intron	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	150					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		ACCGCTTCCTCTACTGCTACG	0.662000													17	36					0	0	0.004990	0	0
LCP1	3936	broad.mit.edu	37	13	46701847	46701847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:46701847G>C	ENST00000398576.2	-	19	2151	c.1763C>G	c.(1762-1764)tCt>tGt	p.S588C	LCP1_ENST00000435666.2_Missense_Mutation_p.S157C|LCP1_ENST00000323076.2_Missense_Mutation_p.S588C			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	588	Actin-binding 2.|CH 4.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.S588F(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGGCCATAGAGATGGCATA	0.493000			T	BCL6	NHL								59	36					0	0	0.014410	0	0
FGR	2268	broad.mit.edu	37	1	27939500	27939500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27939500G>C	ENST00000374005.3	-	13	1803	c.1515C>G	c.(1513-1515)ttC>ttG	p.F505L	FGR_ENST00000399173.1_Missense_Mutation_p.F505L|FGR_ENST00000374004.1_Missense_Mutation_p.F505L|FGR_ENST00000545953.1_Missense_Mutation_p.F439L	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	505	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGGTACTCGAAGGTAGGCC	0.622000													8	36					0	0	0.004482	0	0
N4BP2	55728	broad.mit.edu	37	4	40144375	40144375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:40144375G>A	ENST00000261435.6	+	15	5284	c.4868G>A	c.(4867-4869)aGa>aAa	p.R1623K		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1623						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GATGACTACAGAGCAGAGGCT	0.413000													28	91					0	0	0.007291	0	0
ACPL2	92370	broad.mit.edu	37	3	141006166	141006166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:141006166C>T	ENST00000508812.1	+	4	2256	c.349C>T	c.(349-351)Cac>Tac	p.H117Y	ACPL2_ENST00000393010.2_Missense_Mutation_p.H126Y|ACPL2_ENST00000286353.4_Missense_Mutation_p.H126Y|ACPL2_ENST00000393007.1_Missense_Mutation_p.H110Y|ACPL2_ENST00000504264.1_Missense_Mutation_p.H109Y|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.H88Y			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	126						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAAACCGTATCACCCAAAACT	0.463000													36	119					0	0	0.004289	0	0
FAM169A	26049	broad.mit.edu	37	5	74101053	74101053	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:74101053C>T	ENST00000389156.4	-	7	817	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.E183K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	243										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CCAACACCTTCAACTTCCCAA	0.388000													24	67					0	0	0.014323	0	0
LHPP	64077	broad.mit.edu	37	10	126301921	126301921	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:126301921G>C	ENST00000368842.5	+	7	833	c.805G>C	c.(805-807)Gac>Cac	p.D269H	LHPP_ENST00000368839.1_3'UTR|LHPP_ENST00000482963.1_Intron	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	269					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GCAGCACGCCGACAAGTGATG	0.672000													22	26					0	0	0.003330	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584349	101584349	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:101584349T>C	ENST00000536262.2	-	6	1288	c.730A>G	c.(730-732)Aca>Gca	p.T244A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	244					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAATAATTGTCCAGAAGGTG	0.373000													30	96					0	0	0.006320	0	0
SUOX	6821	broad.mit.edu	37	12	56397731	56397731	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56397731G>C	ENST00000394109.3	+	3	1282	c.558G>C	c.(556-558)ctG>ctC	p.L186L	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Silent_p.L186L|SUOX_ENST00000356124.4_Silent_p.L186L|SUOX_ENST00000266971.3_Silent_p.L186L|SUOX_ENST00000394115.2_Silent_p.L186L			P51687	SUOX_HUMAN	sulfite oxidase	186	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACCCAGCCCTGAAGGTCAACA	0.547000													25	24					0	0	0.003954	0	0
XKR7	343702	broad.mit.edu	37	20	30556321	30556321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30556321G>A	ENST00000562532.2	+	1	517	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTTCGTCTACGACTACTCGGA	0.642000													8	10					0	0	0.003080	0	0
CHUK	1147	broad.mit.edu	37	10	101959727	101959727	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101959727C>T	ENST00000370397.7	-	16	1816		c.e16+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AAGTGTCTTACCTGAAGGTCT	0.348000													24	96					0	0	0.014323	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508401	37508401	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:37508401C>T	ENST00000374660.1	+	40	4049	c.3950C>T	c.(3949-3951)tCt>tTt	p.S1317F	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1198F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1198F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAACCACTTTCTGAAGCTCAA	0.373000													55	43					0	0	0.014410	0	0
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:24406673C>T	ENST00000330966.7	-	20	2584	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.D807N|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.D807N			Q5VTT5	MYOM3_HUMAN	myomesin 3	807	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.602000													15	33					0	0	0.004990	0	0
UNC45A	55898	broad.mit.edu	37	15	91488214	91488214	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91488214C>G	ENST00000394275.2	+	12	1910	c.1075C>G	c.(1075-1077)Ctc>Gtc	p.L359V	UNC45A_ENST00000418476.2_Missense_Mutation_p.L374V	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	374					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGCCTCTATTCTCCTCAGCAA	0.498000													12	66					0	0	0.010729	0	0
ZNF616	90317	broad.mit.edu	37	19	52618287	52618287	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52618287G>A	ENST00000600228.1	-	4	2391	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCAGTGTGGATTCTCTGGT	0.398000													50	362					0	0	0.014410	0	0
RCHY1	25898	broad.mit.edu	37	4	76434446	76434446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:76434446G>A	ENST00000324439.5	-	2	549	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	RCHY1_ENST00000512706.1_Nonsense_Mutation_p.Q29*|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000451788.1_Nonsense_Mutation_p.Q51*|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.Q51*|RCHY1_ENST00000380840.2_Intron	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	51					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGATCTAGTTGATGATCTTCA	0.348000													29	15					0	0	0.008361	0	0
NBEAL1	65065	broad.mit.edu	37	2	204055050	204055050	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:204055050G>C	ENST00000449802.1	+	45	7105	c.6772G>C	c.(6772-6774)Gaa>Caa	p.E2258Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2258	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGATGAGAAAGAAAGAAAAGC	0.353000													34	83					0	0	0.003755	0	0
COPA	1314	broad.mit.edu	37	1	160261692	160261692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160261692C>T	ENST00000241704.7	-	30	3404	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	COPA_ENST00000368069.3_Missense_Mutation_p.E1068K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1059					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAATGTACTCACGGCAAATG	0.522000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	367	115					0	0	0.014410	0	0
ATG5	9474	broad.mit.edu	37	6	106649864	106649864	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:106649864G>A	ENST00000369076.3	-	7	997	c.674C>T	c.(673-675)tCt>tTt	p.S225F	ATG5_ENST00000343245.3_Missense_Mutation_p.S225F|ATG5_ENST00000360666.4_3'UTR|ATG5_ENST00000475645.1_5'UTR|ATG5_ENST00000369070.1_Missense_Mutation_p.S147F	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	225					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATCAATAGCAGAAGGACAAAC	0.378000													53	58					0	0	0.014410	0	0
RLIM	51132	broad.mit.edu	37	X	73812835	73812835	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:73812835G>A	ENST00000332687.6	-	4	533	c.315C>T	c.(313-315)gtC>gtT	p.V105V	RLIM_ENST00000349225.2_Silent_p.V105V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	105					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTTTGTCTGACAGAGTTAA	0.428000													39	22					0	0	0.006230	0	0
TLR7	51284	broad.mit.edu	37	X	12906158	12906158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:12906158C>A	ENST00000380659.3	+	3	2670	c.2531C>A	c.(2530-2532)tCa>tAa	p.S844*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	844					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATTCTGTTCTCACTTTCCATA	0.453000													144	34					6.73184e-63	7.17711e-63	0.014410	1	0
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130027210G>A	ENST00000373387.4	+	1	406	c.54G>A	c.(52-54)ctG>ctA	p.L18L	GARNL3_ENST00000314904.5_Silent_p.L18L|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTATAATACTGATGAAGCATT	0.453000													45	179					0	0	0.011902	0	0
TRPC1	7220	broad.mit.edu	37	3	142509894	142509894	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:142509894A>G	ENST00000273482.6	+	7	1620	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C	TRPC1_ENST00000476941.1_Missense_Mutation_p.Y444C	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	444					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGACTCTGGTATGAAGGGTTG	0.328000													18	68					0	0	0.008871	0	0
TRAV35	28647	broad.mit.edu	37	14	22690301	22690301	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:22690301G>A	ENST00000390462.1	+	0	260																											GGTATAACCAGAAAGGACAGC	0.488000													31	58					0	0	0.009535	0	0
GAS2	2620	broad.mit.edu	37	11	22707331	22707331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:22707331C>T	ENST00000454584.2	+	3	568	c.263C>T	c.(262-264)aCa>aTa	p.T88I	GAS2_ENST00000278187.3_Missense_Mutation_p.T88I|GAS2_ENST00000433790.1_Missense_Mutation_p.T88I|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	88	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AACAAGCCCACAAAGGTAAAA	0.358000													29	32					0	0	0.006320	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503092	45503092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45503092C>T	ENST00000291574.4	+	14	2322	c.2147C>T	c.(2146-2148)tCa>tTa	p.S716L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	716					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAGATGCCCTCAGGGGTGGCT	0.567000													79	91					0	0	0.014410	0	0
OR52A1	23538	broad.mit.edu	37	11	5173165	5173165	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5173165C>G	ENST00000380367.1	-	2	852	c.435G>C	c.(433-435)caG>caC	p.Q145H	OR52A1_ENST00000328942.1_Missense_Mutation_p.Q145H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	145					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTTCCTATCTGAATGACAA	0.483000													23	51					0	0	0.002780	0	0
GRIN1	2902	broad.mit.edu	37	9	140062241	140062241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140062241G>A	ENST00000315048.3	+	20	3813	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	GRIN1_ENST00000371553.3_Missense_Mutation_p.D927N|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371546.4_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.D890N|GRIN1_ENST00000371559.4_Missense_Mutation_p.D869N|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371555.4_3'UTR			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCATCCCACTGATATCACGGG	0.667000													6	30					0	0	0.001984	0	0
PIK3R6	146850	broad.mit.edu	37	17	8725949	8725949	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8725949G>A	ENST00000311434.9	-	16	1982	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	581					platelet activation	cytosol											CCTCAGCCACGCCTCTCCTCC	0.607000													11	22					0	0	0.010729	0	0
ZNF544	27300	broad.mit.edu	37	19	58773587	58773587	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58773587C>G	ENST00000269829.4	+	7	2089	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	ZNF544_ENST00000600220.1_Missense_Mutation_p.Q511E|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.Q539E|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q397E|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q511E|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q511E|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TATTACGCATCAGCGAATTCA	0.443000													57	52					0	0	0.014410	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525365	154525365	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:154525365C>T	ENST00000409663.3	+	25	3250	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	KIAA0922_ENST00000409959.3_Silent_p.F1067F|KIAA0922_ENST00000440693.1_Silent_p.F983F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1066						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAATTGTTTTCAGTAATCCTT	0.358000													25	54					0	0	0.002780	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62892235	62892235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:62892235C>T	ENST00000584306.1	-	3	1671	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E381K|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	381						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGGGGTCTCCTGCTGGGTC	0.517000													82	153					0	0	0.014410	0	0
FNDC3B	64778	broad.mit.edu	37	3	172061911	172061911	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:172061911G>A	ENST00000336824.4	+	19	2212	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E705K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E705K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	705	Fibronectin type-III 5.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGAGGTCTCAGAGTACAGCGT	0.527000													12	111					0	0	0.002450	0	0
GABRR1	2569	broad.mit.edu	37	6	89888585	89888585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:89888585C>G	ENST00000435811.1	-	9	1747	c.1293G>C	c.(1291-1293)atG>atC	p.M431I	GABRR1_ENST00000369451.3_Missense_Mutation_p.M361I|GABRR1_ENST00000454853.2_Missense_Mutation_p.M448I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGTCGATTCTCATGCTCACAT	0.463000													44	173					0	0	0.014410	0	0
IER2	9592	broad.mit.edu	37	19	13264058	13264058	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:13264058C>T	ENST00000588173.1	+	1	1270	c.58C>T	c.(58-60)Cac>Tac	p.H20Y	CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Missense_Mutation_p.H20Y|IER2_ENST00000292433.3_Missense_Mutation_p.H20Y			Q9BTL4	IER2_HUMAN	immediate early response 2	20										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GAAGATGTATCACTCCCGCAT	0.667000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5					0	0	0.000602	0	0
CCDC63	160762	broad.mit.edu	37	12	111290763	111290763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:111290763C>T	ENST00000308208.5	+	2	247	c.5C>T	c.(4-6)tCt>tTt	p.S2F	CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Intron|CCDC63_ENST00000552694.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	2										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TTCAAGATGTCTGTGGTAGGT	0.537000													27	32					0	0	0.004656	0	0
LRCH4	4034	broad.mit.edu	37	7	100180050	100180050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:100180050C>T	ENST00000310300.6	-	2	305	c.253G>A	c.(253-255)Gag>Aag	p.E85K	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	85					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACGCCGCCTCGGGCACCTCG	0.647000													16	23					0	0	0.004007	0	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													15	55					0	0	0.008361	0	0
CDK14	5218	broad.mit.edu	37	7	90528612	90528612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:90528612G>A	ENST00000406263.1	+	6	950	c.508G>A	c.(508-510)Gat>Aat	p.D170N	CDK14_ENST00000265741.3_Missense_Mutation_p.D198N|CDK14_ENST00000436577.2_Missense_Mutation_p.D87N|CDK14_ENST00000380050.3_Missense_Mutation_p.D216N			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	216	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CTAGCACACTGATTTATGTCA	0.363000													12	31					0	0	0.013537	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150532646	150532646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:150532646G>A	ENST00000271643.4	+	19	3435	c.3199G>A	c.(3199-3201)Gag>Aag	p.E1067K	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E1090K|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E1067K	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1067					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACATGTCCTGGAGCGGTCTCC	0.627000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	83	24					0	0	0.014410	0	0
TRPM2	7226	broad.mit.edu	37	21	45789113	45789113	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:45789113G>A	ENST00000397928.1	+	5	1103	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TRPM2_ENST00000397932.2_Missense_Mutation_p.E220K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E220K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E220K	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	220						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGGTAGGCGAGGCGGTGCG	0.682000													5	9					0	0	0.001168	0	0
NASP	4678	broad.mit.edu	37	1	46073665	46073665	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:46073665C>T	ENST00000350030.3	+	6	1169	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.S297L|NASP_ENST00000402363.3_Missense_Mutation_p.S363L|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	361	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGGCTGGATCAGAAGTCTCT	0.527000													7	80					0	0	0.008291	0	0
FTL	2512	broad.mit.edu	37	19	49469600	49469600	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:49469600G>T	ENST00000331825.6	+	3	519	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	104	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TGGCCCTGGAGAAAAAGCTGA	0.537000													26	31					9.86323e-18	1.04288e-17	0.003954	1	0
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:160681499G>A	ENST00000368045.3	-	1	94	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	CD48_ENST00000368046.3_Silent_p.L19L			P09326	CD48_HUMAN	CD48 molecule	19					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532000													52	14					0	0	0.014410	0	0
TRIP10	9322	broad.mit.edu	37	19	6746547	6746547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6746547G>C	ENST00000600428.1	+	10	1391	c.745G>C	c.(745-747)Gaa>Caa	p.E249Q	TRIP10_ENST00000596758.1_Missense_Mutation_p.E357Q|TRIP10_ENST00000313244.9_Missense_Mutation_p.E413Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.E357Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	406	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						ACGCAGTCGTGAACTTCAGAA	0.478000													7	14					0	0	0.001984	0	0
KRT25	147183	broad.mit.edu	37	17	38910644	38910644	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:38910644C>G	ENST00000312150.4	-	2	566	c.506G>C	c.(505-507)aGa>aCa	p.R169T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	169	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTACTTGAGTCTGAAATCATC	0.378000													23	54					0	0	0.003954	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43571884	43571884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:43571884C>T	ENST00000409746.5	-	12	975	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.Q269Q	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	302						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						AAGTTAGGCCCTGTAGCCTTT	0.408000													17	28					0	0	0.004007	0	0
ITCH	83737	broad.mit.edu	37	20	33077105	33077105	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:33077105G>A	ENST00000374864.4	+	21	2341	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	ITCH_ENST00000535650.1_Missense_Mutation_p.E600K|ITCH_ENST00000262650.6_Missense_Mutation_p.E751K	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	751	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCGAGGTGTTGAAGAACAGAC	0.348000													29	92					0	0	0.009535	0	0
ABCA10	10349	broad.mit.edu	37	17	67170479	67170479	+	Silent	SNP	T	T	C	rs143503638	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67170479T>C	ENST00000269081.4	-	26	4014	c.3105A>G	c.(3103-3105)tcA>tcG	p.S1035S	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1035					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAAGATGAATGAAAGCACAT	0.338000													32	130					0	0	0.003755	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891976	45891976	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:45891976G>A	ENST00000007414.3	-	14	1453	c.1262C>T	c.(1261-1263)tCa>tTa	p.S421L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S421L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	421					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCTCCTCTGAGCCCTGGGC	0.642000													6	22					0	0	0.001168	0	0
AARS	16	broad.mit.edu	37	16	70301626	70301626	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:70301626G>A	ENST00000261772.8	-	9	1301	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	386					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCCTCTGCTGAGAGTCTTGA	0.517000											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37					0	0	0.006122	0	0
ADRA1D	146	broad.mit.edu	37	20	4202235	4202235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:4202235C>T	ENST00000379453.4	-	2	1770	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	552				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GTGGCGCCCTCGGCCACCTCG	0.682000													7	34					0	0	0.001984	0	0
RUNX1	861	broad.mit.edu	37	21	36252962	36252962	+	Missense_Mutation	SNP	C	C	G	rs74315451		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:36252962C>G	ENST00000344691.4	-	2	1896	c.319G>C	c.(319-321)Gct>Cct	p.A107P	RUNX1_ENST00000325074.5_Missense_Mutation_p.A122P|RUNX1_ENST00000486278.2_Missense_Mutation_p.A110P|RUNX1_ENST00000437180.1_Missense_Mutation_p.A134P|RUNX1_ENST00000300305.3_Missense_Mutation_p.A134P|RUNX1_ENST00000399240.1_Missense_Mutation_p.A107P|RUNX1_ENST00000358356.5_Missense_Mutation_p.A107P	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	107	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCATTGCCAGCCATCACAGTG	0.488000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								19	20					0	0	0.007413	0	0
WNT2	7472	broad.mit.edu	37	7	116962989	116962989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:116962989G>A	ENST00000265441.3	-	1	354	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	19					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCGGGGGTGAGCCAGGTCAAG	0.607000													5	25					0	0	0.001168	0	0
PCNX	22990	broad.mit.edu	37	14	71575342	71575342	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:71575342C>T	ENST00000304743.2	+	34	6769	c.6323C>T	c.(6322-6324)tCt>tTt	p.S2108F	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.S1997F|PCNX_ENST00000238570.5_Missense_Mutation_p.S2036F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2108	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGCTCTCACTCTGTGCAGTCG	0.532000													21	30					0	0	0.012319	0	0
SCPEP1	59342	broad.mit.edu	37	17	55074400	55074400	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:55074400C>G	ENST00000262288.3	+	9	919	c.864C>G	c.(862-864)ttC>ttG	p.F288L		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	288					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTAGAATTCACACAGAGCC	0.368000													13	54					0	0	0.002450	0	0
FGR	2268	broad.mit.edu	37	1	27950351	27950351	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950351C>A	ENST00000374005.3	-	3	365	c.77G>T	c.(76-78)aGa>aTa	p.R26I	FGR_ENST00000468038.1_5'UTR|FGR_ENST00000399173.1_Missense_Mutation_p.R26I|FGR_ENST00000374004.1_Missense_Mutation_p.R26I|FGR_ENST00000545953.1_Missense_Mutation_p.R26I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	26					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGTAGCTTCTGAAGTCCCC	0.587000													13	25					4.3838e-07	4.51451e-07	0.001855	1	0
LOC81691	81691	broad.mit.edu	37	16	20835811	20835811	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:20835811G>A	ENST00000261377.6	+	7	876	c.667G>A	c.(667-669)Gca>Aca	p.A223T	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.A223T|AC004381.6_ENST00000567297.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.A223T	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGGTTCTATAGCAGACAATAG	0.348000													10	68					0	0	0.008291	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18162455	18162455	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:18162455C>T	ENST00000435364.3	+	7	2114	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	CSRP2BP_ENST00000377681.3_Silent_p.S590S|CSRP2BP_ENST00000489634.2_Silent_p.S463S	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTATTGTCAGCCCTTATACCT	0.458000													20	114					0	0	0.007413	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													6	11					0	0	0.003080	0	0
CPT1A	1374	broad.mit.edu	37	11	68527743	68527743	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:68527743C>G	ENST00000265641.5	-	17	2246	c.2092G>C	c.(2092-2094)Gac>Cac	p.D698H	CPT1A_ENST00000540367.1_Missense_Mutation_p.D698H|CPT1A_ENST00000539743.1_Missense_Mutation_p.D698H|CPT1A_ENST00000376618.2_Missense_Mutation_p.D698H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	698					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTCTCCAAGTCAAACAGCTCC	0.557000													16	16					0	0	0.003163	0	0
FOXM1	2305	broad.mit.edu	37	12	2968485	2968485	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:2968485C>T	ENST00000342628.2	-	10	1838	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	FOXM1_ENST00000361953.3_Silent_p.E522E|FOXM1_ENST00000359843.3_Silent_p.E537E|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	537					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCTCCCTCCTCTCCCTGTGTT	0.577000													30	49					0	0	0.012213	0	0
NOD2	64127	broad.mit.edu	37	16	50745896	50745896	+	Missense_Mutation	SNP	G	G	A	rs143782684		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:50745896G>A	ENST00000300589.2	+	4	2179	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	692					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTGCTGGCTGAGTGCCAGAC	0.672000													15	34					0	0	0.004007	0	0
CSE1L	1434	broad.mit.edu	37	20	47675013	47675013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:47675013G>A	ENST00000262982.2	+	2	136	c.13G>A	c.(13-15)Gat>Aat	p.D5N	CSE1L_ENST00000396192.3_Missense_Mutation_p.D5N|CSE1L_ENST00000542325.1_De_novo_Start_InFrame	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	5					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGAACTCAGCGATGCAAATCT	0.333000													19	101					0	0	0.008871	0	0
DHX9	1660	broad.mit.edu	37	1	182845653	182845653	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:182845653C>T	ENST00000367549.3	+	18	2211	c.2101C>T	c.(2101-2103)Cca>Tca	p.P701S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	701	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGTGTTTGATCCAGTACCAGT	0.403000													28	38					0	0	0.006320	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813421	106813421	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:106813421G>A	ENST00000407775.2	+	8	1361	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G102S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G239S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G239S|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	371					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGCCATTTCGGCTTCCAGAC	0.512000													43	193					0	0	0.014410	0	0
BCL2L1	598	broad.mit.edu	37	20	30309932	30309932	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30309932C>T	ENST00000307677.4	-	2	500	c.90G>A	c.(88-90)gtG>gtA	p.V30V	BCL2L1_ENST00000376055.4_Silent_p.V30V|BCL2L1_ENST00000420653.1_Silent_p.V30V|BCL2L1_ENST00000376062.2_Silent_p.V30V	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	30					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TGTTCTCTTCCACATCACTAA	0.527000													61	77					0	0	0.014410	0	0
TRAF4	9618	broad.mit.edu	37	17	27076569	27076569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27076569G>A	ENST00000262395.5	+	7	1516	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Missense_Mutation_p.E188K	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	463					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TGCTGCTGTTGAACTGCCCCG	0.557000													22	52					0	0	0.003330	0	0
RTTN	25914	broad.mit.edu	37	18	67715352	67715352	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:67715352G>A	ENST00000255674.6	-	40	5682	c.5396C>T	c.(5395-5397)tCt>tTt	p.S1799F	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1799							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAAGAGAACAGAAAGGAATTG	0.448000													20	29					0	0	0.008871	0	0
MARK2	2011	broad.mit.edu	37	11	63668428	63668428	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:63668428G>A	ENST00000402010.2	+	11	1567		c.e11-1		MARK2_ENST00000513765.2_Splice_Site|MARK2_ENST00000377809.4_Splice_Site|MARK2_ENST00000508192.1_Splice_Site|MARK2_ENST00000509502.2_Splice_Site|MARK2_ENST00000315032.8_Splice_Site|MARK2_ENST00000350490.7_Splice_Site|MARK2_ENST00000408948.3_Splice_Site|MARK2_ENST00000377810.3_Splice_Site|MARK2_ENST00000361128.5_Splice_Site|MARK2_ENST00000413835.2_Splice_Site|MARK2_ENST00000502399.3_Splice_Site|MARK2_ENST00000425897.2_Splice_Site	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2						cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCCTGTGCAGAGCTGATGGT	0.577000													49	57					0	0	0.014410	0	0
IPO7	10527	broad.mit.edu	37	11	9424908	9424908	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9424908G>C	ENST00000379719.3	+	2	298	c.156G>C	c.(154-156)gtG>gtC	p.V52V	IPO7_ENST00000533680.1_3'UTR	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	52	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATTTACCTGTGAGACAGGCAG	0.378000													18	49					0	0	0.007413	0	0
DTX1	1840	broad.mit.edu	37	12	113532921	113532921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113532921G>A	ENST00000257600.3	+	7	1964	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	487					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGGGAAGATGGAGTTCCACC	0.642000													21	33					0	0	0.010504	0	0
TLK1	9874	broad.mit.edu	37	2	171913057	171913057	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:171913057G>C	ENST00000442919.2	-	6	944	c.329C>G	c.(328-330)tCa>tGa	p.S110*	TLK1_ENST00000431350.2_Nonsense_Mutation_p.S158*|TLK1_ENST00000360843.3_Nonsense_Mutation_p.S179*|TLK1_ENST00000521943.1_Nonsense_Mutation_p.S110*|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Nonsense_Mutation_p.S62*	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	158					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TACTGGACTTGAGCCATTTCC	0.373000													25	54					0	0	0.006320	0	0
WBSCR22	114049	broad.mit.edu	37	7	73107716	73107716	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:73107716G>T	ENST00000265758.2	+	8	626	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	WBSCR22_ENST00000423166.2_3'UTR|WBSCR22_ENST00000423497.1_Missense_Mutation_p.D190Y	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	190						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CATGGTGGTAGACTACCCTAA	0.602000													7	12					0.00198382	0.00201155	0.001984	1	0
TMEM80	283232	broad.mit.edu	37	11	702971	702971	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:702971G>A	ENST00000608174.1	+	5	465	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TMEM80_ENST00000397510.3_Missense_Mutation_p.E158K|TMEM80_ENST00000397512.3_Missense_Mutation_p.E102K	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAGAGGCTGAGAGGCCGCT	0.692000													11	36					0	0	0.010729	0	0
NUP205	23165	broad.mit.edu	37	7	135329649	135329649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:135329649C>T	ENST00000285968.6	+	40	5592	c.5566C>T	c.(5566-5568)Cag>Tag	p.Q1856*		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1856					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTAGTTGTGTCAGTCTGTGAT	0.383000													29	99					0	0	0.006320	0	0
GGA2	23062	broad.mit.edu	37	16	23492071	23492071	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:23492071C>T	ENST00000309859.4	-	10	983	c.901G>A	c.(901-903)Gac>Aac	p.D301N	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	301	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTGAGGAGGTCATTTGCCTGG	0.493000													265	46					0	0	0.014410	0	0
ZMYM1	79830	broad.mit.edu	37	1	35575944	35575944	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35575944C>T	ENST00000373330.1	+	8	1031	c.857C>T	c.(856-858)tCa>tTa	p.S286L	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S286L|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	286						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAAGCCCTCAGATGAAATG	0.353000													34	118					0	0	0.012213	0	0
FRYL	285527	broad.mit.edu	37	4	48525073	48525073	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:48525073C>T	ENST00000537810.1	-	54	7970	c.7366G>A	c.(7366-7368)Gac>Aac	p.D2456N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.D2456N|FRYL_ENST00000358350.4_Missense_Mutation_p.D2456N			O94915	FRYL_HUMAN	FRY-like	2456					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAATACTGTCCAGTGAGCGC	0.483000													40	55					0	0	0.007835	0	0
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62767306C>T	ENST00000336232.2	-	4	581	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_ENST00000430500.2_Missense_Mutation_p.R149H|SLC22A8_ENST00000535878.1_Missense_Mutation_p.R26H|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.R58H|SLC22A8_ENST00000311438.8_Missense_Mutation_p.R149H	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	149			R -> S (complete loss of function; dbSNP:rs45566039).		response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GATGGGCCTGCGGCCAAACCT	0.627000													4	22					0	0	0.000602	0	0
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:56015534C>T	ENST00000327381.6	+	1	586	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652000													30	27					0	0	0.008361	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40828484	40828484	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40828484C>T	ENST00000293349.6	-	1	528	c.98G>A	c.(97-99)gGg>gAg	p.G33E	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.G33E|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G33E			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	33					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCCTCGTCCCCGTCCCCGCT	0.672000													4	9					0	0	0.009096	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657952	72657952	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:72657952G>A	ENST00000425256.1	-	0	1959																											tggatgacatgaaggagtcga	0.498000													39	103					0	0	0.014410	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168624	142168624	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:142168624C>T	ENST00000454561.2	-	0	299																											GCTGTCCTCTCGTTTTGATCA	0.552000													10	48					0	0	0.008291	0	0
CYB5R4	51167	broad.mit.edu	37	6	84618805	84618805	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:84618805G>A	ENST00000369681.5	+	4	548	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CYB5R4_ENST00000369679.4_Silent_p.L102L	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4						cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CTGCTGTTCTGAAAGGTAAGT	0.393000													10	54					0	0	0.006214	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143223	42143223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:42143223G>A	ENST00000444063.1	+	1	171	c.39G>A	c.(37-39)atG>atA	p.M13I	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.M13I|L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.M13I|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	13					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ACTCCGAGATGGGTCAAGGAC	0.632000													5	7					0	0	0.000602	0	0
SHROOM4	57477	broad.mit.edu	37	X	50370665	50370665	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:50370665C>G	ENST00000376020.2	-	5	2931	c.2906G>C	c.(2905-2907)gGg>gCg	p.G969A	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G969A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G853A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	969					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTTGTCCCCAGGAAATTC	0.493000													19	18					0	0	0.006122	0	0
TFE3	7030	broad.mit.edu	37	X	48891000	48891000	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:48891000G>C	ENST00000315869.7	-	8	1375	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	372	Helix-loop-helix motif.				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						ACTTAGGGATGAGAGTGCCCA	0.567000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								7	17					0	0	0.001984	0	0
LRP5L	91355	broad.mit.edu	37	22	25747768	25747768	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:25747768A>T	ENST00000402859.2	-	6	1280	c.757T>A	c.(757-759)Tga>Aga	p.*253R	LRP5L_ENST00000444995.3_Silent_p.A223A|LRP5L_ENST00000402785.2_Nonstop_Mutation_p.*253R	NM_001135772.1	NP_001129244.1	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	0										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CATGTCACTCAGCAGTTCCAG	0.577000													18	49					0	0	0.008871	0	0
INSR	3643	broad.mit.edu	37	19	7184523	7184523	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:7184523G>A	ENST00000341500.5	-	3	817	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	INSR_ENST00000302850.5_Silent_p.L260L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	260	Cys-rich.		L -> P (in LEPRCH; Geldeimalsen).		activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCGTCCAGGTAGAAGTTG	0.637000													3	13					0	0	0.009096	0	0
EHF	26298	broad.mit.edu	37	11	34680084	34680084	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:34680084G>A	ENST00000257831.3	+	8	733	c.612G>A	c.(610-612)ccG>ccA	p.P204P	EHF_ENST00000531794.1_Silent_p.P226P|EHF_ENST00000530286.1_Silent_p.P204P|EHF_ENST00000533754.1_Silent_p.P204P|EHF_ENST00000450654.2_Silent_p.P181P	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	204					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P204P(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CATCAGACCCGAGAGGGACTC	0.468000													50	33					0	0	0.014410	0	0
LHX1	3975	broad.mit.edu	37	17	35297719	35297719	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:35297719C>T	ENST00000254457.5	+	2	1714	c.303C>T	c.(301-303)ggC>ggT	p.G101G	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	101	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TCTCCACTGGCGAGGAACTCT	0.522000													6	18					0	0	0.001984	0	0
RAD54L2	23132	broad.mit.edu	37	3	51672281	51672281	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:51672281G>A	ENST00000409535.2	+	11	1929	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	RAD54L2_ENST00000296477.3_Missense_Mutation_p.G296S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCGGGACTGTGGTAGCAGCGG	0.522000											OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	27					0	0	0.003954	0	0
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:7870910G>A	ENST00000264668.2	+	2	114	c.84G>A	c.(82-84)atG>atA	p.M28I	MTRR_ENST00000440940.2_Start_Codon_SNP_p.M1I|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Start_Codon_SNP_p.M1I	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	28					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.M28I(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403000													56	52					0	0	0.014410	0	0
PRDX3	10935	broad.mit.edu	37	10	120928689	120928689	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:120928689C>T	ENST00000298510.2	-	6	759	c.717G>A	c.(715-717)acG>acA	p.T239T	PRDX3_ENST00000356951.3_Splice_Site_p.T221T|PRDX3_ENST00000494433.1_5'UTR	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	239					cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		AAAAACCTACCGTAGGAGAAT	0.512000													26	73					0	0	0.005443	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990348	39990348	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:39990348C>T	ENST00000332312.3	-	4	2053	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	621						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CGTTCCCGCTCATCCAGGGAC	0.592000													29	35					0	0	0.008361	0	0
SH2D6	284948	broad.mit.edu	37	2	85662187	85662187	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:85662187G>A	ENST00000340326.2	+	1	270	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SH2D6_ENST00000481426.2_Splice_Site|SH2D6_ENST00000389938.2_Splice_Site	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	37										central_nervous_system(1)|lung(2)	3						GCTTCTTCTAGAAGGAAGGAA	0.632000													10	23					0	0	0.006214	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489431	201489431	+	RNA	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:201489431C>T	ENST00000441932.1	+	0	1601				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						TGATTACCTTCATCTGCCCTC	0.537000													5	9					0	0	0.001168	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972601	35972601	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:35972601G>C	ENST00000325722.3	-	3	512	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	93	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGCAGGCAGAGTCCTGGCA	0.562000													7	29					0	0	0.010729	0	0
ISG20	3669	broad.mit.edu	37	15	89182687	89182687	+	Silent	SNP	C	C	T	rs144037981		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89182687C>T	ENST00000306072.5	+	2	448	c.90C>T	c.(88-90)ctC>ctT	p.L30L	ISG20_ENST00000379224.5_Silent_p.L30L|ISG20_ENST00000560741.1_Silent_p.L30L	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	30					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GTTGCAGCCTCGTGAACGTCC	0.647000											OREG0023441	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.010729	0	0
GRHL1	29841	broad.mit.edu	37	2	10101494	10101494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:10101494C>T	ENST00000324907.9	+	4	734	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	GRHL1_ENST00000324883.5_Silent_p.L36L|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.Q200*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	200					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CTCTGGTGCTCAAGCCCCAAA	0.522000													40	143					0	0	0.009718	0	0
GTF2A2	2958	broad.mit.edu	37	15	59942969	59942969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:59942969G>A	ENST00000396060.2	-	3	257	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396064.3_Nonsense_Mutation_p.Q26*|GTF2A2_ENST00000396063.1_Nonsense_Mutation_p.Q26*|GTF2A2_ENST00000484743.1_Intron|GTF2A2_ENST00000396061.1_Nonsense_Mutation_p.Q26*|AC092755.4_ENST00000441746.1_RNA	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	26					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						GTGATCTGTTGAGACTGAGAA	0.368000													26	33					0	0	0.004656	0	0
MYH15	22989	broad.mit.edu	37	3	108139937	108139937	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108139937C>G	ENST00000273353.3	-	29	3943	c.3887G>C	c.(3886-3888)aGt>aCt	p.S1296T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1296						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTACTTACCACTCTCACTCCA	0.463000													34	133					0	0	0.013726	0	0
RET	5979	broad.mit.edu	37	10	43612094	43612094	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43612094C>T	ENST00000355710.3	+	12	2431	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RET_ENST00000340058.5_Silent_p.G733G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	733	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TAGGAGAAGGCGAATTTGGAA	0.527000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				41	256					0	0	0.014410	0	0
ARL14	80117	broad.mit.edu	37	3	160395402	160395402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:160395402G>A	ENST00000320767.2	+	1	455	c.268G>A	c.(268-270)Gac>Aac	p.D90N		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	90					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GTATGTTGTGGACAGTACAGA	0.433000													12	82					0	0	0.001855	0	0
RCBTB2	1102	broad.mit.edu	37	13	49085972	49085972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:49085972G>A	ENST00000544492.1	-	5	508	c.38C>T	c.(37-39)tCg>tTg	p.S13L	RCBTB2_ENST00000430805.2_Silent_p.L244L|RCBTB2_ENST00000344532.3_Silent_p.L239L|RCBTB2_ENST00000544904.1_Silent_p.L215L			O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	466							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACTGTTGCCGAGTCCAAGCT	0.527000													12	31					0	0	0.013537	0	0
KERA	11081	broad.mit.edu	37	12	91445283	91445283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:91445283G>A	ENST00000266719.3	-	3	1146	c.899C>T	c.(898-900)tCt>tTt	p.S300F		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	300					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ACATATTACAGAGACATTCAC	0.428000													31	39					0	0	0.009535	0	0
SLC9A3	6550	broad.mit.edu	37	5	475147	475147	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:475147C>T	ENST00000264938.3	-	16	2361	c.2352G>A	c.(2350-2352)tcG>tcA	p.S784S	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S775S	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	784						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGGCCCTCTGCGAGGGGACCA	0.672000													7	11					0	0	0.003080	0	0
C19orf40	91442	broad.mit.edu	37	19	33467474	33467474	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33467474C>T	ENST00000588258.1	+	5	644	c.534C>T	c.(532-534)ctC>ctT	p.L178L	C19orf40_ENST00000590281.1_Silent_p.L178L|C19orf40_ENST00000590179.1_Silent_p.L83L|C19orf40_ENST00000589646.1_Silent_p.L83L	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	178	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					CCCTTCTCCTCCAGAAGTTTC	0.542000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	114					0	0	0.006320	0	0
LEAP2	116842	broad.mit.edu	37	5	132209663	132209663	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:132209663G>C	ENST00000296877.2	+	2	1452	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	LEAP2_ENST00000485457.1_3'UTR	NM_052971.2	NP_443203.1	Q969E1	LEAP2_HUMAN	liver expressed antimicrobial peptide 2	27					defense response to bacterium	extracellular region				NS(1)|endometrium(1)	2		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAATACCAGAAGTGAGTTC	0.512000													34	20					0	0	0.003271	0	0
BFSP1	631	broad.mit.edu	37	20	17479526	17479526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:17479526G>A	ENST00000377873.3	-	6	934	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	BFSP1_ENST00000377868.2_Nonsense_Mutation_p.Q174*|BFSP1_ENST00000536626.1_Nonsense_Mutation_p.Q160*|BFSP1_ENST00000544874.1_Nonsense_Mutation_p.Q160*	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	299	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGTTTGCTGGGCGACCGCC	0.547000													19	24					0	0	0.007413	0	0
DOT1L	84444	broad.mit.edu	37	19	2194543	2194543	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:2194543G>A	ENST00000398665.3	+	7	654	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	206						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGTGGATGAAATGGTATG	0.597000													17	40					0	0	0.007413	0	0
GJD4	219770	broad.mit.edu	37	10	35894525	35894525	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:35894525C>T	ENST00000321660.1	+	1	188	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	10					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGGGTTTCTCATCATCACAT	0.517000													12	34					0	0	0.001855	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245448	33245448	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:33245448G>C	ENST00000451237.1	+	1	532	c.252G>C	c.(250-252)ctG>ctC	p.L84L		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	84					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CGGAGAACCTGAACCAGAGAA	0.667000													36	82					0	0	0.004289	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061947	40061947	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40061947C>T	ENST00000336649.4	+	26	4058	c.4058C>T	c.(4057-4059)tCg>tTg	p.S1353L	CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1347L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1347L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1312L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1312L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1312L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1347					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCAACCGCTCGGACTGCATG	0.597000													8	23					0	0	0.004482	0	0
ZNF608	57507	broad.mit.edu	37	5	124036909	124036909	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036909G>A	ENST00000306315.5	-	2	1395	c.960C>T	c.(958-960)ctC>ctT	p.L320L	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512000													14	50					0	0	0.010504	0	0
SPIDR	23514	broad.mit.edu	37	8	48508407	48508407	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:48508407G>A	ENST00000297423.4	+	9	1516	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SPIDR_ENST00000541342.1_Missense_Mutation_p.V308I|SPIDR_ENST00000518074.1_Missense_Mutation_p.V318I|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		AAGTTGCCCTGTTATTCTGAA	0.388000													58	53					0	0	0.014410	0	0
CDK16	5127	broad.mit.edu	37	X	47083092	47083092	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:47083092G>A	ENST00000457458.2	+	2	574	c.154G>A	c.(154-156)Gag>Aag	p.E52K	CDK16_ENST00000276052.6_Missense_Mutation_p.E120K|CDK16_ENST00000518022.1_Missense_Mutation_p.E46K|CDK16_ENST00000357227.4_Missense_Mutation_p.E46K	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	46							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGACCCTGGAGAGGCCCCCAC	0.627000													8	2					0	0	0.004482	0	0
PCF11	51585	broad.mit.edu	37	11	82877695	82877695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:82877695G>A	ENST00000298281.4	+	5	2208	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	586					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GGAGAATGTAGAAAACTGGCA	0.393000													62	45					0	0	0.014410	0	0
CCNJL	79616	broad.mit.edu	37	5	159682612	159682612	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:159682612C>T	ENST00000393977.3	-	6	1116	c.831G>A	c.(829-831)caG>caA	p.Q277Q	CCNJL_ENST00000541762.1_Silent_p.Q228Q|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.Q229Q|CCNJL_ENST00000519673.1_Silent_p.Q229Q	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	277						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGATCCTCTGCAGGTCTC	0.507000													76	78					0	0	0.014410	0	0
FAM160B1	57700	broad.mit.edu	37	10	116593033	116593033	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:116593033C>T	ENST00000369248.4	+	3	501	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	FAM160B1_ENST00000369246.1_Silent_p.L56L|FAM160B1_ENST00000369250.3_Silent_p.L56L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	56										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCCATCGCATCTGGAACAGAT	0.353000													23	67					0	0	0.012319	0	0
JAK3	3718	broad.mit.edu	37	19	17942579	17942579	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17942579C>T	ENST00000458235.1	-	20	2808	c.2709G>A	c.(2707-2709)gaG>gaA	p.E903E	JAK3_ENST00000527670.1_Silent_p.E903E|JAK3_ENST00000534444.1_Silent_p.E903E	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	903	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGGGCAGGTACTCCATGACCA	0.662000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								7	16					0	0	0.004482	0	0
TRIM11	81559	broad.mit.edu	37	1	228582712	228582712	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228582712C>T	ENST00000493030.2	-	5	4435	c.726G>A	c.(724-726)gaG>gaA	p.E242E	TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.E367E|RP11-245P10.8_ENST00000602963.1_RNA			Q96F44	TRI11_HUMAN	tripartite motif containing 11	367					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCGCCCTTCTCCTTCCTGT	0.647000													22	19					0	0	0.003954	0	0
ESYT1	23344	broad.mit.edu	37	12	56531079	56531079	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56531079G>A	ENST00000394048.5	+	17	2124	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	ESYT1_ENST00000541590.1_Silent_p.E630E|ESYT1_ENST00000267113.4_Silent_p.E630E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	620						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGACAGTGAGAATCCCCAGA	0.532000													34	59					0	0	0.006230	0	0
PLD1	5337	broad.mit.edu	37	3	171338225	171338225	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:171338225G>C	ENST00000356327.5	-	23	2635	c.2565C>G	c.(2563-2565)atC>atG	p.I855M	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.I893M|PLD1_ENST00000340989.4_Missense_Mutation_p.I893M	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	893	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTGGACATAGATAAGCTCAG	0.353000													16	116					0	0	0.006122	0	0
CCNH	902	broad.mit.edu	37	5	86703827	86703827	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:86703827T>G	ENST00000508855.1	-	3	321	c.269A>C	c.(268-270)tAc>tCc	p.Y90S	CCNH_ENST00000256897.4_Missense_Mutation_p.Y164S|CCNH_ENST00000504878.1_Missense_Mutation_p.Y90S|CCNH_ENST00000513499.1_Intron			P51946	CCNH_HUMAN	cyclin H	164					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AAATGGTCTGTAAGGATTGTG	0.363000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					27	48					0	0	0.006320	0	0
GALM	130589	broad.mit.edu	37	2	38960689	38960689	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:38960689C>T	ENST00000272252.5	+	7	1263	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GALM_ENST00000410063.1_Silent_p.F189F	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	337					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCACCTGGTTCAAGTTTTCTG	0.527000													88	104					0	0	0.014410	0	0
TULP4	56995	broad.mit.edu	37	6	158924726	158924726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:158924726G>A	ENST00000367097.3	+	13	5388	c.4031G>A	c.(4030-4032)cGa>cAa	p.R1344Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1344					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)		CTGGACAGCCGAGCAGAAGAA	0.537000													9	47					0	0	0.004482	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267782	66267782	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:66267782C>T	ENST00000327268.4	-	6	683	c.519G>A	c.(517-519)ctG>ctA	p.L173L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L173L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	173						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCGCTCCTTCAGAGCCATGA	0.448000													25	24					0	0	0.008361	0	0
DTX1	1840	broad.mit.edu	37	12	113531504	113531504	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:113531504G>C	ENST00000257600.3	+	4	1667	c.1164G>C	c.(1162-1164)aaG>aaC	p.K388N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	388					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACCTTAAAAAGAGTACGCCCT	0.582000													11	17					0	0	0.013537	0	0
MYH15	22989	broad.mit.edu	37	3	108102561	108102561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:108102561G>A	ENST00000273353.3	-	41	5763	c.5707C>T	c.(5707-5709)Caa>Taa	p.Q1903*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1903						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAAGGTATTGATTGGCTTGT	0.333000													28	102					0	0	0.005443	0	0
NCOR2	9612	broad.mit.edu	37	12	124979754	124979754	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:124979754G>A	ENST00000356219.3	-	2	199	c.44C>T	c.(43-45)aCt>aTt	p.T15I	NCOR2_ENST00000405201.1_Missense_Mutation_p.T15I|NCOR2_ENST00000429285.2_Missense_Mutation_p.T15I|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.T15I|NCOR2_ENST00000404621.1_Missense_Mutation_p.T15I	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	15					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGGCTCAGTGGCCCTCCA	0.642000													7	34					0	0	0.003080	0	0
GNG4	2786	broad.mit.edu	37	1	235747067	235747067	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:235747067C>G	ENST00000391854.2	-	3	525	c.72G>C	c.(70-72)aaG>aaC	p.K24N	GNG4_ENST00000450593.1_Missense_Mutation_p.K24N|GNG4_ENST00000366598.4_Missense_Mutation_p.K24N|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Missense_Mutation_p.K24N	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	24					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	p.K24N(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			AGGCTTCCATCTTTAGCTGCT	0.512000													79	69					0	0	0.014410	0	0
KANTR	102723508	broad.mit.edu	37	X	53172528	53172528	+	RNA	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:53172528G>T	ENST00000604849.1	+	0	1091																											GGATCTTCATGAGGTAGTTGG	0.592000													6	1					0.00198382	0.00201155	0.001984	1	0
DCHS1	8642	broad.mit.edu	37	11	6661224	6661224	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:6661224C>T	ENST00000299441.3	-	2	2032	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGAGGTTCCAACTCATAG	0.572000													11	33					0	0	0.002450	0	0
ABCA10	10349	broad.mit.edu	37	17	67149526	67149526	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:67149526C>A	ENST00000269081.4	-	35	4965	c.4056G>T	c.(4054-4056)ctG>ctT	p.L1352L	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1352	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCAGGATGCTCAGCACAAAGC	0.562000													36	110					4.11147e-13	4.3116e-13	0.003755	1	0
ZBTB18	10472	broad.mit.edu	37	1	244218572	244218572	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:244218572G>C	ENST00000358704.4	+	2	1645	c.1496G>C	c.(1495-1497)tGt>tCt	p.C499S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		AAGTTCCACTGTGAGTTGGTG	0.547000													21	71					0	0	0.014323	0	0
CEBPA	1050	broad.mit.edu	37	19	33792440	33792440	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33792440A>T	ENST00000498907.2	-	1	1030	c.881T>A	c.(880-882)aTc>aAc	p.I294N	CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	294					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.R291_S299>H*(1)|p.I294fs*25(1)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCGCACCGCGATGTTGTTGCG	0.672000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				8	27					0	0	0.004482	0	0
NBAS	51594	broad.mit.edu	37	2	15415689	15415689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:15415689C>T	ENST00000281513.5	-	44	5668	c.5643G>A	c.(5641-5643)atG>atA	p.M1881I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1761I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1881										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAAGTACTTCATGCAGACAT	0.448000													65	25					0	0	0.014410	0	0
GFI1	2672	broad.mit.edu	37	1	92941706	92941706	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:92941706G>A	ENST00000370332.1	-	7	1467	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	GFI1_ENST00000427103.1_Silent_p.L383L|GFI1_ENST00000294702.5_Silent_p.L383L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	383					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGGGTGATGAGGTTGGAGC	0.597000													6	10					0	0	0.003080	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965042	26965042	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:26965042C>G	ENST00000528896.2	-	14	1657	c.1583G>C	c.(1582-1584)cGa>cCa	p.R528P	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R385P|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R385P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	528						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGAAGTCCTCGAATGGTACA	0.502000													22	31					0	0	0.014323	0	0
ABCA12	26154	broad.mit.edu	37	2	215852376	215852376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:215852376G>A	ENST00000272895.7	-	27	4190	c.3971C>T	c.(3970-3972)tCt>tTt	p.S1324F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1006F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1324					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTACTGGCAGATGGGTTGGT	0.408000													22	38					0	0	0.005443	0	0
HES1	3280	broad.mit.edu	37	3	193854434	193854434	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:193854434G>A	ENST00000232424.3	+	2	373	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	46					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GAGAAAAGACGAAGAGCAAGA	0.408000													10	14					0	0	0.008291	0	0
RNF168	165918	broad.mit.edu	37	3	196214289	196214289	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:196214289C>G	ENST00000318037.3	-	3	1133	c.539G>C	c.(538-540)aGa>aCa	p.R180T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	180					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTTAGCTTTCTTGCCAGTTC	0.473000													90	290					0	0	0.014410	0	0
STK4	6789	broad.mit.edu	37	20	43623860	43623860	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:43623860G>A	ENST00000372806.3	+	6	750	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	STK4_ENST00000372801.1_Missense_Mutation_p.E219K|STK4_ENST00000499879.2_Missense_Mutation_p.E164K|STK4_ENST00000396731.4_Missense_Mutation_p.E219K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	219	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGAAATGGCTGAAGGAAAGCC	0.443000													20	73					0	0	0.008871	0	0
SLC26A6	65010	broad.mit.edu	37	3	48671065	48671065	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48671065C>T	ENST00000420764.2	-	2	116	c.27G>A	c.(25-27)ccG>ccA	p.P9P	SLC26A6_ENST00000383733.3_Silent_p.P9P|SLC26A6_ENST00000455886.2_Silent_p.P9P|SLC26A6_ENST00000358747.6_5'UTR|SLC26A6_ENST00000337000.8_Silent_p.P9P|SLC26A6_ENST00000395550.2_Silent_p.P9P|SLC26A6_ENST00000482282.1_5'UTR	NM_022911.2|NM_134263.2	NP_075062.2|NP_599025.2			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGTGTCCCTCGGTCTGGGGT	0.577000													63	71					0	0	0.014410	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436813	20436813	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:20436813C>T	ENST00000377252.4	+	6	1606	c.765C>T	c.(763-765)atC>atT	p.I255I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.I206I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATGGACGAATCATCTTTGGAT	0.453000													21	48					0	0	0.014323	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420746	1420746	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:1420746C>T	ENST00000270349.9	-	6	992	c.865G>A	c.(865-867)Gga>Aga	p.G289R	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G289R	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	289					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTATGGCTCCAGGGAGGGTG	0.597000													19	77					0	0	0.007413	0	0
RBM25	58517	broad.mit.edu	37	14	73577788	73577788	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:73577788A>T	ENST00000261973.7	+	15	2227	c.1942A>T	c.(1942-1944)Att>Ttt	p.I648F	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.I648F	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	648					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGGTATTATTATTCCTCATGA	0.468000													11	42					0	0	0.013537	0	0
PRC1	9055	broad.mit.edu	37	15	91517833	91517833	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:91517833C>G	ENST00000361188.5	-	10	2543	c.1332G>C	c.(1330-1332)gaG>gaC	p.E444D	PRC1_ENST00000394249.3_Missense_Mutation_p.E444D|PRC1_ENST00000442656.2_Missense_Mutation_p.E403D|PRC1_ENST00000361919.3_Missense_Mutation_p.E444D|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	444	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTTGGCTCTCTCTTTCTCCA	0.463000													140	127					0	0	0.014410	0	0
VPS13B	157680	broad.mit.edu	37	8	100454826	100454826	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100454826G>A	ENST00000395996.1	+	23	3519	c.3408G>A	c.(3406-3408)gaG>gaA	p.E1136E	VPS13B_ENST00000358544.2_Silent_p.E1136E|VPS13B_ENST00000357162.2_Silent_p.E1136E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1136					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTGCAGGAGATTCCATTTG	0.393000													13	52					0	0	0.013537	0	0
DNAJC11	55735	broad.mit.edu	37	1	6696217	6696217	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:6696217C>T	ENST00000377577.5	-	15	1737	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.V448V|DNAJC11_ENST00000294401.7_Silent_p.V486V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.V500V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	538					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACCATCACCTGATGCA	0.597000													27	36					0	0	0.004656	0	0
EPRS	2058	broad.mit.edu	37	1	220146632	220146632	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:220146632C>G	ENST00000366923.3	-	29	4461	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1398	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AGTTTAGTCTCTGCCTCATTT	0.433000													42	60					0	0	0.008740	0	0
GLS	2744	broad.mit.edu	37	2	191792056	191792056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:191792056G>A	ENST00000320717.3	+	12	1531	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	GLS_ENST00000409626.1_5'UTR|GLS_ENST00000338435.4_Missense_Mutation_p.E425K	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	425					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTGACTTGTGAATCAGCCAG	0.383000													13	28					0	0	0.004990	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147003	65147003	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:65147003G>A	ENST00000417511.2	-	8	1191	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC25A45_ENST00000534028.1_Silent_p.F37F|SLC25A45_ENST00000527174.1_Silent_p.F61F|SLC25A45_ENST00000526432.1_Intron|SLC25A45_ENST00000360662.3_Silent_p.F37F|SLC25A45_ENST00000398802.1_Silent_p.F61F|SLC25A45_ENST00000377152.2_Intron|SLC25A45_ENST00000294187.6_Silent_p.F19F	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	61					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGGCAATGGGGAAGCTCATTC	0.622000													17	41					0	0	0.004007	0	0
DCT	1638	broad.mit.edu	37	13	95104879	95104879	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:95104879T>C	ENST00000446125.1	-	7	1643	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S	DCT_ENST00000377028.5_Intron	NM_001129889.1	NP_001123361.1	P40126	TYRP2_HUMAN	dopachrome tautomerase	394					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ttcaaggatgtttgttgtagc	0.274000													18	11					0	0	0.010504	0	0
AQR	9716	broad.mit.edu	37	15	35189812	35189812	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:35189812C>T	ENST00000156471.5	-	21	2563	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	780						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACATGGGGCTCAACAATTAAG	0.368000													22	91					0	0	0.012319	0	0
NUP88	4927	broad.mit.edu	37	17	5322700	5322700	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:5322700C>T	ENST00000573584.1	-	1	780	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	91					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCGGGCTCTTCGCCGCCGCCG	0.602000													20	27					0	0	0.007413	0	0
ADAM10	102	broad.mit.edu	37	15	58904123	58904123	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:58904123C>T	ENST00000260408.3	-	12	2022	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.D226N	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	527	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CAGTCTGAATCATCCCGACAC	0.428000													23	57					0	0	0.003330	0	0
HSPA2	3306	broad.mit.edu	37	14	65009223	65009223	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:65009223C>T	ENST00000247207.6	+	1	2038	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	HSPA2_ENST00000394709.1_Silent_p.I552I	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	552					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCTACAACATCAAGCAGACGG	0.552000													25	51					0	0	0.003330	0	0
ATP11A	23250	broad.mit.edu	37	13	113508799	113508799	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:113508799C>T	ENST00000487903.1	+	19	2286	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	ATP11A_ENST00000283558.8_Missense_Mutation_p.T733M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T733M|ATP11A_ENST00000375645.3_Missense_Mutation_p.T733M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	733					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGCAAGACGGTCCTGCGC	0.657000													13	11					0	0	0.001855	0	0
NUPL2	11097	broad.mit.edu	37	7	23240239	23240239	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:23240239G>C	ENST00000258742.5	+	7	1406	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	383	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding	p.D383Y(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTGCAACAGATAATGTGTT	0.393000													28	174					0	0	0.006320	0	0
NT5C3B	115024	broad.mit.edu	37	17	39981850	39981850	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39981850C>G	ENST00000269534.8	-	9	905	c.804G>C	c.(802-804)gaG>gaC	p.E268D	NT5C3B_ENST00000521789.1_Missense_Mutation_p.E176D|NT5C3B_ENST00000435506.2_Missense_Mutation_p.E276D	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		CATCCAGAGTCTCGTCCTTCT	0.637000													51	42					0	0	0.014410	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562000													7	13					0	0	0.004482	0	0
LRRC16B	90668	broad.mit.edu	37	14	24532014	24532014	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24532014G>A	ENST00000342740.5	+	29	2819	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	889										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCGGAACCATGACCATGAGGA	0.627000													7	39					0	0	0.004482	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791126	91791126	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91791126C>T	ENST00000389857.6	-	12	1425	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	447					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TACCTACCGTCTGACAAGTCT	0.602000													9	20					0	0	0.004482	0	0
SLC24A3	57419	broad.mit.edu	37	20	19565642	19565642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:19565642G>A	ENST00000328041.6	+	5	648	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	151						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGATGTGGCTGGGGCCACATT	0.552000													16	54					0	0	0.003330	0	0
KIF23	9493	broad.mit.edu	37	15	69721528	69721528	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:69721528G>A	ENST00000260363.4	+	10	1165	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	KIF23_ENST00000395392.2_Missense_Mutation_p.E350K|KIF23_ENST00000558585.1_Missense_Mutation_p.E167K|KIF23_ENST00000352331.4_Missense_Mutation_p.E350K|KIF23_ENST00000559279.1_Missense_Mutation_p.E350K|KIF23_ENST00000537891.1_Missense_Mutation_p.E167K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	350	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GACCAGAGCAGAAGGGAACAG	0.368000													11	4					0	0	0.008291	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226866	43226866	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:43226866C>T	ENST00000332499.2	+	1	2183	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	103					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGCGACTTCCCGCCGCCGG	0.672000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	8					0	0	0.001984	0	0
CEBPA	1050	broad.mit.edu	37	19	33792439	33792439	+	Silent	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:33792439G>T	ENST00000498907.2	-	1	1031	c.882C>A	c.(880-882)atC>atA	p.I294I	CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	294					cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter		sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.R291_S299>H*(1)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TGCGCACCGCGATGTTGTTGC	0.672000			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation				9	25					0.00621372	0.00629471	0.006214	1	0
RTN4RL2	349667	broad.mit.edu	37	11	57243799	57243799	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:57243799C>T	ENST00000335099.3	+	3	995	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	226					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGCGGCCTCAGCCGCCTCA	0.706000													6	8					0	0	0.001855	0	0
ZNF230	7773	broad.mit.edu	37	19	44514653	44514653	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:44514653C>G	ENST00000429154.2	+	5	690	c.462C>G	c.(460-462)atC>atG	p.I154M		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	154	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I154M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATGTTGCCATCTTTGATCCTC	0.448000													33	146					0	0	0.010818	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989728	64989728	+	Missense_Mutation	SNP	T	T	G	rs142978553	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64989728T>G	ENST00000358738.3	+	2	1897	c.1506T>G	c.(1504-1506)gaT>gaG	p.D502E	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D502E|ZBTB1_ENST00000554015.1_Missense_Mutation_p.D502E	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AAATAAGAGATATGTTTGTTG	0.398000													38	97					0	0	0.004289	0	0
SLX4	84464	broad.mit.edu	37	16	3640211	3640211	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:3640211G>A	ENST00000294008.3	-	12	4068	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1143	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTTCAGTTTGGATGAAGATTT	0.448000								Direct reversal of damage					65	24					0	0	0.014410	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000													26	170					0	0	0.005443	0	0
ZNF574	64763	broad.mit.edu	37	19	42584118	42584118	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:42584118G>C	ENST00000600245.1	+	2	2015	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	ZNF574_ENST00000222339.7_Missense_Mutation_p.E544Q|ZNF574_ENST00000359044.4_Missense_Mutation_p.E454Q|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCTGTGTCTGAGGAGACCTC	0.637000													38	40					0	0	0.004289	0	0
CEP350	9857	broad.mit.edu	37	1	180080149	180080149	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:180080149G>A	ENST00000367607.3	+	38	9625	c.9207G>A	c.(9205-9207)gaG>gaA	p.E3069E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3069						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCTCCATGAGGAGGAGGCAC	0.413000													17	59					0	0	0.007413	0	0
UBE2N	7334	broad.mit.edu	37	12	93804976	93804976	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:93804976C>T	ENST00000318066.2	-	2	507	c.130G>A	c.(130-132)Gat>Aat	p.D44N	UBE2N_ENST00000552442.1_Missense_Mutation_p.D44N|UBE2N_ENST00000550657.1_Missense_Mutation_p.D44N|UBE2N_ENST00000549833.1_5'UTR	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	44					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						AAGGGGGAATCCTGAGGGCCA	0.478000								Direct reversal of damage;Rad6 pathway					51	92					0	0	0.014410	0	0
SURF2	6835	broad.mit.edu	37	9	136226921	136226921	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:136226921C>T	ENST00000371964.4	+	4	474	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	145							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		TGACGGGCCTCGCCCGCGGGA	0.627000													19	11					0	0	0.008871	0	0
DUOX1	53905	broad.mit.edu	37	15	45445633	45445633	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:45445633C>T	ENST00000321429.4	+	27	3887	c.3480C>T	c.(3478-3480)ctC>ctT	p.L1160L	DUOX1_ENST00000559221.1_3'UTR|DUOX1_ENST00000389037.3_Silent_p.L1160L|DUOX1_ENST00000561166.1_Silent_p.L806L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1160	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCAGCCCCCTCAGCGTCCTCT	0.537000													29	101					0	0	0.009535	0	0
PAN2	9924	broad.mit.edu	37	12	56716974	56716974	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56716974C>T	ENST00000425394.2	-	17	2753	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	PAN2_ENST00000257931.5_Missense_Mutation_p.E792K|PAN2_ENST00000440411.3_Missense_Mutation_p.E789K|PAN2_ENST00000548043.1_Missense_Mutation_p.E793K	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	793					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCACACCCTCTGGACTCCCT	0.463000													100	150					0	0	0.014410	0	0
NIPA2	81614	broad.mit.edu	37	15	23012428	23012428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:23012428G>A	ENST00000337451.3	-	7	911	c.299C>T	c.(298-300)tCt>tTt	p.S100F	NIPA2_ENST00000398013.3_Missense_Mutation_p.S100F|NIPA2_ENST00000398014.2_Missense_Mutation_p.S100F|NIPA2_ENST00000359727.4_Missense_Mutation_p.S81F|NIPA2_ENST00000539711.2_Missense_Mutation_p.S81F	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	100						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AAAGTATGAAGAAAGAATGGC	0.318000													59	101					0	0	0.014410	0	0
DEFB123	245936	broad.mit.edu	37	20	30037947	30037947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:30037947C>A	ENST00000376309.3	+	2	354	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	58					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCCCAAGTACCAGCCAAAAG	0.423000													15	77					5.01169e-05	5.11753e-05	0.004990	1	0
BCL2	596	broad.mit.edu	37	18	60985642	60985642	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:60985642G>A	ENST00000398117.1	-	1	1719	c.258C>T	c.(256-258)ctC>ctT	p.L86L	BCL2_ENST00000444484.1_Silent_p.L86L|BCL2_ENST00000333681.4_Silent_p.L86L|BCL2_ENST00000589955.1_Silent_p.L86L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	86					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	GCACCGGGCTGAGCGCAggcc	0.771000			T	IGH@	"""NHL, CLL"""								3	6					0	0	0.004672	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226989	1226989	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:1226989G>A	ENST00000338555.2	+	15	3060	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*	SCNN1D_ENST00000325425.8_Silent_p.*705*|SCNN1D_ENST00000400928.3_Silent_p.*639*|SCNN1D_ENST00000379116.5_Silent_p.*803*					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTGGACACCTGAACCAGACCT	0.677000													29	17					0	0	0.012213	0	0
SMAD3	4088	broad.mit.edu	37	15	67473685	67473685	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67473685G>A	ENST00000327367.4	+	6	1075	c.765G>A	c.(763-765)atG>atA	p.M255I	SMAD3_ENST00000540846.2_Missense_Mutation_p.M150I|SMAD3_ENST00000537194.2_Missense_Mutation_p.M60I|SMAD3_ENST00000439724.3_Missense_Mutation_p.M211I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	255	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGCCATCCATGACTGTGGATG	0.597000													7	22					0	0	0.004482	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662285	40662285	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40662285C>G	ENST00000454349.2	+	5	2262	c.2051C>G	c.(2050-2052)tCa>tGa	p.S684*	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.S684*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	684					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGGGAGCTCTCAGCCTCTACA	0.552000													3	4					0	0	0.004672	0	0
YARS	8565	broad.mit.edu	37	1	33252626	33252626	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:33252626C>T	ENST00000373477.4	-	7	1643	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	245					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGGCCTTCTTCAGTTTTTTCT	0.443000													57	45					0	0	0.014410	0	0
ABCC2	1244	broad.mit.edu	37	10	101594192	101594192	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101594192G>A	ENST00000370449.4	+	24	3427	c.3314G>A	c.(3313-3315)tGc>tAc	p.C1105Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1105	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGATTACATGCTTCCTGGGG	0.473000													87	96					0	0	0.014410	0	0
CCDC60	160777	broad.mit.edu	37	12	119954484	119954484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:119954484G>A	ENST00000327554.2	+	8	1405	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	314										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCACAATAGAAAATGGGAT	0.468000													16	58					0	0	0.004007	0	0
RPL7	6129	broad.mit.edu	37	8	74205835	74205835	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:74205835C>T	ENST00000352983.2	-	1	298	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_Intron|RPL7_ENST00000396466.1_Intron			P18124	RL7_HUMAN	ribosomal protein L7	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GCAACTCACTCTACACCCTCC	0.502000													5	28					0	0	0.000602	0	0
SLC27A1	376497	broad.mit.edu	37	19	17608118	17608118	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:17608118G>A	ENST00000252595.7	+	7	1148	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E351K|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E172K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	351	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCGGTGCGCGAGGCGGAGAG	0.687000													3	10					0	0	0.001984	0	0
CLCN6	1185	broad.mit.edu	37	1	11882771	11882771	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:11882771G>A	ENST00000346436.6	+	6	418	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.Q122Q|CLCN6_ENST00000376487.3_Silent_p.Q100Q|CLCN6_ENST00000312413.6_Silent_p.Q122Q	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	122					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGCCAGAAAGGCTGCC	0.547000													42	93					0	0	0.007835	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622908	65622908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:65622908G>A	ENST00000327987.4	-	10	1984	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	578	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGGTTGTAGGAGGAGACGGT	0.667000													25	36					0	0	0.003954	0	0
C1orf56	54964	broad.mit.edu	37	1	151021023	151021023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151021023C>T	ENST00000368926.5	+	1	808	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	234						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGCGCCTTCGAGTTGGGGC	0.657000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	206	86					0	0	0.014410	0	0
ABI3BP	25890	broad.mit.edu	37	3	100471769	100471769	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:100471769C>G	ENST00000471714.1	-	65	5066	c.4957G>C	c.(4957-4959)Gaa>Caa	p.E1653Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.E905Q|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E951Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	951						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAGGGTCTTTCAGTCCAGATG	0.373000													36	40					0	0	0.004878	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709337	128709337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:128709337G>A	ENST00000392665.2	-	2	946	c.802C>T	c.(802-804)Ctc>Ttc	p.L268F	KCNJ1_ENST00000324036.3_Missense_Mutation_p.L268F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L268F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.L268F|KCNJ1_ENST00000392664.2_Missense_Mutation_p.L287F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	287					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TCCTGCTGGAGAAGGGTCTCC	0.483000													53	49					0	0	0.014410	0	0
HNRNPC	3183	broad.mit.edu	37	14	21699232	21699232	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:21699232C>T	ENST00000430246.2	-	3	3193		c.e3-1		HNRNPC_ENST00000420743.2_Splice_Site|HNRNPC_ENST00000336053.6_Splice_Site|HNRNPC_ENST00000449098.1_Splice_Site|HNRNPC_ENST00000555309.1_Splice_Site|HNRNPC_ENST00000553753.1_Splice_Site|HNRNPC_ENST00000555883.1_Splice_Site|HNRNPC_ENST00000556142.1_Splice_Site|HNRNPC_ENST00000320084.7_Splice_Site|HNRNPC_ENST00000556897.1_Splice_Site|HNRNPC_ENST00000556513.1_Splice_Site|HNRNPC_ENST00000554969.1_Splice_Site|HNRNPC_ENST00000553300.1_Splice_Site|HNRNPC_ENST00000554455.1_Splice_Site|HNRNPC_ENST00000555914.1_Splice_Site|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000557201.1_Splice_Site			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)							catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGGTTAATATCTGAAAAACAA	0.383000													19	39					0	0	0.007413	0	0
ANO7	50636	broad.mit.edu	37	2	242162689	242162689	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242162689G>A	ENST00000274979.8	+	22	2675	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	ANO7_ENST00000402430.3_Missense_Mutation_p.E857K	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	858						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CATTGTGTTTGAGGTAGCCGA	0.577000													47	14					0	0	0.014410	0	0
LRRC1	55227	broad.mit.edu	37	6	53660187	53660187	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:53660187G>C	ENST00000370888.1	+	1	410	c.133G>C	c.(133-135)Gcc>Ccc	p.A45P	LRRC1_ENST00000370882.1_Missense_Mutation_p.A45P	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	45						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCTGCTGGACGCCAACCAGCT	0.667000													12	13					0	0	0.004007	0	0
GALNT11	63917	broad.mit.edu	37	7	151818704	151818704	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:151818704C>T	ENST00000434507.1	+	14	2206	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	GALNT11_ENST00000452146.2_Missense_Mutation_p.S509F|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Missense_Mutation_p.S590F|GALNT11_ENST00000320311.2_Missense_Mutation_p.S590F			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	590	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAGAAGGGCTCTGTCGCCATG	0.517000													18	41					0	0	0.004990	0	0
UBR1	197131	broad.mit.edu	37	15	43307928	43307928	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:43307928G>A	ENST00000290650.4	-	29	3245	c.3167C>T	c.(3166-3168)tCa>tTa	p.S1056L	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1056					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGCATTTCTGATGTATTGTC	0.353000													57	189					0	0	0.014410	0	0
LRP2	4036	broad.mit.edu	37	2	170148823	170148823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:170148823G>A	ENST00000263816.3	-	7	994	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.Q237*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	237	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCCAGTTTTGATAAATGCAT	0.453000													18	49					0	0	0.004990	0	0
ZNF330	27309	broad.mit.edu	37	4	142155060	142155060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:142155060G>A	ENST00000262990.4	+	10	1108	c.880G>A	c.(880-882)Gag>Aag	p.E294K	ZNF330_ENST00000421169.2_Missense_Mutation_p.E234K	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	294						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTCAGATACTGAGTCATCAGA	0.438000													20	43					0	0	0.010504	0	0
MED1	5469	broad.mit.edu	37	17	37576107	37576107	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:37576107C>G	ENST00000300651.6	-	14	1383	c.1160G>C	c.(1159-1161)aGt>aCt	p.S387T	MED1_ENST00000394287.3_Missense_Mutation_p.S387T	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	387	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCCTGTAGACTTCGGCCATC	0.483000										HNSCC(31;0.082)			23	68					0	0	0.012319	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187526	58187526	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:58187526C>A	ENST00000318203.5	+	3	710	c.13C>A	c.(13-15)Cta>Ata	p.L5I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	5					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTTTAGATCTAAGAACCAT	0.398000													19	116					2.94398e-08	3.04473e-08	0.007413	1	0
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:55846762C>T	ENST00000322678.1	+	1	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423000													32	167					0	0	0.009535	0	0
KCNIP2	30819	broad.mit.edu	37	10	103588903	103588903	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:103588903G>A	ENST00000358038.3	-	3	574	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	KCNIP2_ENST00000461105.1_Silent_p.L108L|KCNIP2_ENST00000370046.1_Silent_p.L43L|KCNIP2_ENST00000356640.2_Silent_p.L93L|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Silent_p.L43L|KCNIP2_ENST00000353068.3_Silent_p.L43L|KCNIP2_ENST00000348850.5_Silent_p.L48L	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	93				D -> V (in Ref. 2; BAA96741).	clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		AGCTGCTCCAGACCCTCAGGC	0.617000													5	22					0	0	0.001168	0	0
DOCK2	1794	broad.mit.edu	37	5	169122855	169122855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:169122855C>T	ENST00000256935.8	+	10	972	c.892C>T	c.(892-894)Caa>Taa	p.Q298*		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	298					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGATTTGTCAAATAGTCCG	0.473000													52	45					0	0	0.014410	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884334	24884334	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24884334G>A	ENST00000382554.3	+	9	3697	c.3379G>A	c.(3379-3381)Gac>Aac	p.D1127N		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCAGAAGCCTGACTGGCAGTG	0.622000													12	14					0	0	0.010729	0	0
DCPS	28960	broad.mit.edu	37	11	126215464	126215464	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:126215464G>A	ENST00000263579.4	+	6	1299	c.970G>A	c.(970-972)Gac>Aac	p.D324N	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	324					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CCTCAGGGCTGACGACCCCCT	0.607000													30	81					0	0	0.013726	0	0
RIN1	9610	broad.mit.edu	37	11	66099733	66099733	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:66099733C>T	ENST00000424433.2	-	10	1905	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	RIN1_ENST00000311320.4_3'UTR|RIN1_ENST00000530056.1_3'UTR			Q13671	RIN1_HUMAN	Ras and Rab interactor 1	0	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						AATGACCCTTCTGGCCACTTC	0.642000													49	97					0	0	0.014410	0	0
SNX22	79856	broad.mit.edu	37	15	64445458	64445458	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64445458G>A	ENST00000325881.4	+	4	338	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	93	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCCTGTACCTGAACCAGGAGG	0.567000													43	29					0	0	0.011902	0	0
COL27A1	85301	broad.mit.edu	37	9	116925054	116925054	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:116925054G>A	ENST00000356083.3	+	2	513	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	41					cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCACCCAAGGAGCTCCTGAA	0.557000													80	61					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141359032	141359032	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:141359032C>T	ENST00000389484.3	-	42	7947	c.6976G>A	c.(6976-6978)Gat>Aat	p.D2326N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2326					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACATTCATCCAAGGCTAGC	0.378000										TSP Lung(27;0.18)			38	10					0	0	0.005524	0	0
SOX15	6665	broad.mit.edu	37	17	7492785	7492785	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7492785C>T	ENST00000250055.2	-	1	703	c.210G>A	c.(208-210)caG>caA	p.Q70Q	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Silent_p.Q70Q|SOX15_ENST00000570788.1_Silent_p.Q70Q	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	70				QQ -> HE (in Ref. 5; CAA51520).	chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|prostate(1)	2						TCTTGGGGTTCTGCTGCGCCA	0.682000											OREG0024139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	9					0	0	0.001855	0	0
SSFA2	6744	broad.mit.edu	37	2	182766801	182766801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:182766801C>T	ENST00000431877.2	+	8	1200	c.1021C>T	c.(1021-1023)Caa>Taa	p.Q341*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.Q341*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.Q188*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.Q341*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	341						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAAAAACGATCAAAAGTCTCA	0.358000													14	43					0	0	0.003163	0	0
DTNA	1837	broad.mit.edu	37	18	32391936	32391936	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:32391936G>A	ENST00000283365.9	+	7	813	c.462G>A	c.(460-462)atG>atA	p.M154I	DTNA_ENST00000348997.5_Missense_Mutation_p.M154I|DTNA_ENST00000554864.3_Missense_Mutation_p.M154I|DTNA_ENST00000269190.7_Missense_Mutation_p.M154I|DTNA_ENST00000598334.1_Missense_Mutation_p.M154I|DTNA_ENST00000444659.1_Missense_Mutation_p.M154I|DTNA_ENST00000399113.3_Missense_Mutation_p.M154I|DTNA_ENST00000598774.1_Missense_Mutation_p.M154I|DTNA_ENST00000596745.1_Missense_Mutation_p.M154I|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598142.1_Missense_Mutation_p.M154I|DTNA_ENST00000399121.5_Missense_Mutation_p.M154I|DTNA_ENST00000315456.6_Missense_Mutation_p.M154I|DTNA_ENST00000597599.1_Missense_Mutation_p.M154I|DTNA_ENST00000269191.6_Missense_Mutation_p.M154I|DTNA_ENST00000595022.1_Missense_Mutation_p.M154I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	154	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTCTCAATGATTTCTGACT	0.368000													21	43					0	0	0.003330	0	0
CROCC	9696	broad.mit.edu	37	1	17257888	17257888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:17257888G>A	ENST00000375541.5	+	8	1021	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	318					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.E318K(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GATGTTCACTGAGAGGTGAGG	0.587000													79	60					0	0	0.014410	0	0
MPDZ	8777	broad.mit.edu	37	9	13143491	13143491	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:13143491C>T	ENST00000319217.7	-	27	4061	c.3814G>A	c.(3814-3816)Gac>Aac	p.D1272N	MPDZ_ENST00000546205.1_Missense_Mutation_p.D1286N|MPDZ_ENST00000447879.1_Intron|MPDZ_ENST00000536827.1_Intron|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1272N|MPDZ_ENST00000538841.1_Intron|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1272N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D1272N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1272					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTAGAGAGTCAGCAAATGGG	0.428000													82	52					0	0	0.014410	0	0
TAF4B	6875	broad.mit.edu	37	18	23866219	23866219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:23866219C>T	ENST00000269142.5	+	7	2344	c.1346C>T	c.(1345-1347)tCa>tTa	p.S449L	TAF4B_ENST00000578121.1_Missense_Mutation_p.S449L|TAF4B_ENST00000400466.2_Missense_Mutation_p.S449L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	449					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACCACGGTCTCACTGCAACCT	0.488000													25	37					0	0	0.003330	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796691	93796691	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:93796691G>A	ENST00000315765.9	+	3	441	c.433G>A	c.(433-435)Gga>Aga	p.G145R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	145	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATACCCAGATGGAACATCTGG	0.418000													6	7					0	0	0.001168	0	0
PI4KB	5298	broad.mit.edu	37	1	151288752	151288752	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151288752G>A	ENST00000368875.2	-	3	822	c.242C>T	c.(241-243)tCt>tTt	p.S81F	PI4KB_ENST00000368872.1_Missense_Mutation_p.S69F|PI4KB_ENST00000368874.4_Missense_Mutation_p.S69F|PI4KB_ENST00000368873.1_Missense_Mutation_p.S69F|PI4KB_ENST00000271657.5_Missense_Mutation_p.S81F|PI4KB_ENST00000529142.1_Intron	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	69					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTGCTAGAGACTGCCAC	0.572000													15	137					0	0	0.004007	0	0
DNM1	1759	broad.mit.edu	37	9	130981398	130981398	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130981398C>T	ENST00000341179.7	+	4	548	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM1_ENST00000475805.1_Silent_p.I152I|DNM1_ENST00000486160.1_Silent_p.I152I|DNM1_ENST00000393594.3_Silent_p.I152I|DNM1_ENST00000372923.3_Silent_p.I152I	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	152					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCCCGACATCGAGTTCCAGA	0.617000													37	115					0	0	0.003755	0	0
GSTA5	221357	broad.mit.edu	37	6	52701150	52701150	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:52701150G>A	ENST00000370989.2	-	3	185	c.156C>T	c.(154-156)ttC>ttT	p.F52F	GSTA5_ENST00000284562.2_Silent_p.F52F|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GTACTTGCTGGAACAGCAAAC	0.403000													30	149					0	0	0.008361	0	0
MYH10	4628	broad.mit.edu	37	17	8508259	8508259	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:8508259C>A	ENST00000360416.3	-	3	525	c.387G>T	c.(385-387)aaG>aaT	p.K129N	MYH10_ENST00000396239.1_Missense_Mutation_p.K129N|MYH10_ENST00000269243.4_Missense_Mutation_p.K129N|MYH10_ENST00000379980.4_Missense_Mutation_p.K129N	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	129	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTGGAAGATTCTTGTAAGGGT	0.328000													17	65					9.16793e-09	9.50878e-09	0.004990	1	0
FAM86EP	348926	broad.mit.edu	37	4	3944359	3944359	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3944359G>A	ENST00000313946.8	-	0	1972																											GCCAGAAGCTGAAATGACGGC	0.562000													4	10					0	0	0.009096	0	0
TNIP2	79155	broad.mit.edu	37	4	2746669	2746669	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:2746669C>T	ENST00000510267.1	-	4	767	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	TNIP2_ENST00000315423.7_Missense_Mutation_p.E221K|TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	221						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAGGTCTTCAACCTGAAGA	0.582000													8	35					0	0	0.004482	0	0
MCM8	84515	broad.mit.edu	37	20	5935298	5935298	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:5935298G>C	ENST00000378896.3	+	4	675	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	MCM8_ENST00000265187.4_Missense_Mutation_p.E100Q|MCM8_ENST00000378883.1_Missense_Mutation_p.E100Q|MCM8_ENST00000378886.2_Missense_Mutation_p.E100Q	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	100					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCAAGCATTTGAAAAATTTTT	0.363000													17	73					0	0	0.004990	0	0
MUC2	4583	broad.mit.edu	37	11	1081800	1081800	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:1081800G>A	ENST00000441003.2	+	13	1755	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	MUC2_ENST00000359061.5_Silent_p.L576L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	576	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCTCCCTGAACATCGAGA	0.677000													16	20					0	0	0.006122	0	0
PRDM9	56979	broad.mit.edu	37	5	23522739	23522739	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:23522739G>C	ENST00000296682.3	+	8	809	c.627G>C	c.(625-627)caG>caC	p.Q209H		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	209					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATGTGTCAGAACTTCTTCA	0.488000										HNSCC(3;0.000094)			9	24					0	0	0.006214	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579748	140579748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:140579748C>T	ENST00000354757.3	+	1	401	c.401C>T	c.(400-402)tCg>tTg	p.S134L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		134					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCATCTTCTCGGAAAAACAA	0.428000													43	151					0	0	0.009718	0	0
AXDND1	126859	broad.mit.edu	37	1	179339182	179339182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:179339182G>A	ENST00000367618.3	+	4	730	c.343G>A	c.(343-345)Gac>Aac	p.D115N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D115N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	115										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACCTGATTGACCATCCCGT	0.413000													9	31					0	0	0.008291	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187358	6187358	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:6187358G>A	ENST00000588304.1	+	12	1901	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K	ACSBG2_ENST00000586696.1_Silent_p.K535K|ACSBG2_ENST00000252669.5_Silent_p.K535K|ACSBG2_ENST00000591403.1_Silent_p.K535K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Silent_p.K348K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	535					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTTAAGAAGAAGATCCCCA	0.468000													19	80					0	0	0.003330	0	0
ZHX1	11244	broad.mit.edu	37	8	124266210	124266210	+	Silent	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:124266210C>A	ENST00000395571.3	-	3	2594	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G	ZHX1_ENST00000522655.1_Silent_p.G659G|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.G659G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	659					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCTGTACTCCCTGACTTAG	0.438000													16	161					1.99824e-07	2.06074e-07	0.004990	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651198	43651198	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:43651198G>A	ENST00000374466.3	+	2	936	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E201K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	201					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGATGAACAAGAAGATGAGGA	0.363000													37	90					0	0	0.005524	0	0
SCUBE2	57758	broad.mit.edu	37	11	9088303	9088303	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:9088303C>A	ENST00000457346.2	-	6	775	c.701G>T	c.(700-702)gGc>gTc	p.G234V	SCUBE2_ENST00000450649.2_Missense_Mutation_p.G234V|SCUBE2_ENST00000520467.1_Missense_Mutation_p.G234V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.G234V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	234	EGF-like 5 (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCACTCTGGGCCATCGGCTGT	0.537000													16	10					5.35267e-07	5.50965e-07	0.007413	1	0
PRPF40B	25766	broad.mit.edu	37	12	50036100	50036100	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:50036100G>A	ENST00000261897.1	+	19	2413	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R634Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R656Q|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	634					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCTGCCTTTCGAAGCATGCTG	0.642000													45	55					0	0	0.014410	0	0
C15orf54	400360	broad.mit.edu	37	15	39544580	39544580	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:39544580C>G	ENST00000318578.3	+	2	612	c.244C>G	c.(244-246)Caa>Gaa	p.Q82E	C15orf54_ENST00000561223.1_Missense_Mutation_p.Q82E|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	82										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GACATCACATCAAATCATCCA	0.448000													40	150					0	0	0.005524	0	0
FAM219B	57184	broad.mit.edu	37	15	75198699	75198699	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:75198699G>A	ENST00000357635.5	-	2	542	c.222C>T	c.(220-222)caC>caT	p.H74H	FAM219B_ENST00000457294.2_Silent_p.H74H|FAM219B_ENST00000563119.1_Silent_p.H74H|FAM219B_ENST00000565772.1_5'UTR	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN	family with sequence similarity 219, member B	74							cytochrome-c oxidase activity										CCAGGTCCCGGTGCTTCTCTG	0.642000													4	14					0	0	0.009096	0	0
FAM83D	81610	broad.mit.edu	37	20	37576605	37576605	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:37576605G>A	ENST00000217429.4	+	3	869	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	246					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAGTTCACGTTGATTGATG	0.438000													19	108					0	0	0.006122	0	0
GADD45G	10912	broad.mit.edu	37	9	92220696	92220696	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:92220696C>T	ENST00000252506.6	+	3	379	c.270C>T	c.(268-270)atC>atT	p.I90I	GADD45G_ENST00000375769.1_Silent_p.I72I|GADD45G_ENST00000494726.1_3'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	90					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						AGAACGACATCGACATAGTGC	0.647000													13	33					0	0	0.001855	0	0
FCRLB	127943	broad.mit.edu	37	1	161695648	161695648	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:161695648C>T	ENST00000367948.2	+	6	560	c.345C>T	c.(343-345)ttC>ttT	p.F115F	FCRLB_ENST00000367944.3_Silent_p.F108F|FCRLB_ENST00000336830.5_Silent_p.F115F|FCRLB_ENST00000367946.3_Silent_p.F115F|FCRLB_ENST00000392158.1_Silent_p.F115F|FCRLB_ENST00000367945.1_Silent_p.F108F			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	115	Ig-like C2-type 2.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGCCAGTGTTCGAGGGTGAGC	0.592000													4	52					0	0	0.001984	0	0
ICT1	3396	broad.mit.edu	37	17	73016661	73016661	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:73016661G>A	ENST00000301585.5	+	5	458	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	149					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAATCTGGCAGATTGCCTGCA	0.453000													14	41					0	0	0.004007	0	0
WDFY3	23001	broad.mit.edu	37	4	85672802	85672802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:85672802C>G	ENST00000322366.6	-	36	6214	c.5807G>C	c.(5806-5808)gGg>gCg	p.G1936A	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1936A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1936						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTGTTCATCCCTGTGTCTGC	0.443000													28	142					0	0	0.007291	0	0
OAZ3	51686	broad.mit.edu	37	1	151743617	151743617	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:151743617C>T	ENST00000479764.1	+	4	3599	c.83C>T	c.(82-84)tCc>tTc	p.S28F	OAZ3_ENST00000321531.5_Silent_p.L165L|OAZ3_ENST00000453029.2_Silent_p.L178L|OAZ3_ENST00000400999.1_Missense_Mutation_p.S28F|OAZ3_ENST00000315067.8_Silent_p.L165L			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	99					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	ACCCTGCCCTCCCTCCCTTGG	0.512000													234	68					0	0	0.014410	0	0
MRPL41	64975	broad.mit.edu	37	9	140446923	140446923	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:140446923C>T	ENST00000371443.5	+	2	1178	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	130					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TCTTCCAGCTCTACCCCAGGA	0.557000													23	16					0	0	0.014323	0	0
DMXL1	1657	broad.mit.edu	37	5	118533569	118533569	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:118533569C>T	ENST00000311085.8	+	32	7743	c.7663C>T	c.(7663-7665)Cat>Tat	p.H2555Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.H2555Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2555										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATCGCAAGTCATACCGCCGA	0.428000													30	117					0	0	0.009535	0	0
FAM65C	140876	broad.mit.edu	37	20	49212713	49212713	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:49212713C>T	ENST00000327979.2	-	15	2277	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L	FAM65C_ENST00000535356.1_Silent_p.L626L|FAM65C_ENST00000045083.2_Silent_p.L622L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	622										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTGTACCATCAGCAGCACGT	0.597000													41	52					0	0	0.007835	0	0
ZNF608	57507	broad.mit.edu	37	5	124036770	124036770	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:124036770C>G	ENST00000306315.5	-	2	1534	c.1099G>C	c.(1099-1101)Ggg>Cgg	p.G367R	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	367						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCACAGGGCCCAAGACACTCT	0.453000													15	66					0	0	0.004007	0	0
ZBBX	79740	broad.mit.edu	37	3	167045793	167045793	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:167045793T>A	ENST00000392766.2	-	11	1139	c.799A>T	c.(799-801)Agt>Tgt	p.S267C	ZBBX_ENST00000307529.5_Missense_Mutation_p.S267C|ZBBX_ENST00000392764.1_Missense_Mutation_p.S238C|ZBBX_ENST00000455345.2_Missense_Mutation_p.S267C|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.S267C	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	267						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCCATTGACTTAACACTTCC	0.373000													49	178					0	0	0.014410	0	0
ZNF836	162962	broad.mit.edu	37	19	52659824	52659824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:52659824G>A	ENST00000322146.8	-	5	1633	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.S371F	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACAAGATTAGAATTCTGCCT	0.403000													34	79					0	0	0.013726	0	0
WDR73	84942	broad.mit.edu	37	15	85186742	85186742	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:85186742G>A	ENST00000434634.2	-	8	1156	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	366										cervix(1)|large_intestine(1)|lung(1)	3						CACACATGCAGAGAGGCATCA	0.552000													9	13					0	0	0.004482	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799256	133799256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:133799256G>A	ENST00000372338.4	-	4	966	c.724C>T	c.(724-726)Cga>Tga	p.R242*	FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.R84*|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.R242*|FIBCD1_ENST00000253018.4_Nonsense_Mutation_p.R84*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	242	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AGACAGTCTCGGGGCCGGGAG	0.632000													13	33					0	0	0.004007	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907799	10907799	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:10907799C>G	ENST00000283141.6	+	10	997	c.701C>G	c.(700-702)tCt>tGt	p.S234C	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.S75C	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	234						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTTGCTATTTCTGAAGCGCTG	0.348000													38	45					0	0	0.006230	0	0
FLNA	2316	broad.mit.edu	37	X	153580262	153580262	+	Silent	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:153580262G>C	ENST00000422373.1	-	41	7121	c.6873C>G	c.(6871-6873)gtC>gtG	p.V2291V	FLNA_ENST00000360319.4_Silent_p.V2291V|FLNA_ENST00000369856.3_Silent_p.V432V|FLNA_ENST00000344736.4_Silent_p.V2259V|FLNA_ENST00000369850.3_Silent_p.V2299V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2299					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGGCTCCTGGACCACATAAG	0.637000													9	7					0	0	0.004482	0	0
ZNF251	90987	broad.mit.edu	37	8	145947214	145947214	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:145947214G>T	ENST00000292562.7	-	5	2106	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACCTGATGTTGAATAAGGGTT	0.478000													48	33					3.05275e-18	3.23249e-18	0.013114	1	0
ANO6	196527	broad.mit.edu	37	12	45781986	45781986	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:45781986T>C	ENST00000320560.8	+	11	1410	c.1208T>C	c.(1207-1209)cTt>cCt	p.L403P	ANO6_ENST00000441606.2_Missense_Mutation_p.L385P|ANO6_ENST00000435642.1_Missense_Mutation_p.L403P|ANO6_ENST00000423947.3_Missense_Mutation_p.L424P|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.L403P	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	403					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAGGCAGAACTTGAGTATGAA	0.423000													76	135					0	0	0.014410	0	0
TENM2	57451	broad.mit.edu	37	5	167655045	167655045	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:167655045G>A	ENST00000519204.1	+	24	5185	c.5067G>A	c.(5065-5067)ctG>ctA	p.L1689L	TENM2_ENST00000403607.2_Silent_p.L1634L|TENM2_ENST00000545108.1_Silent_p.L1809L|TENM2_ENST00000518659.1_Silent_p.L1810L|TENM2_ENST00000520394.1_Silent_p.L1571L					teneurin transmembrane protein 2																		ACATCTCCCTGCCTATGGAGA	0.527000													10	4					0	0	0.010729	0	0
ZMYND12	84217	broad.mit.edu	37	1	42921666	42921666	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:42921666C>T	ENST00000372565.3	-	1	272	c.3G>A	c.(1-3)atG>atA	p.M1I	ZMYND12_ENST00000433602.2_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	1						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATCACATTCATGGTGCAGC	0.637000													4	16					0	0	0.009096	0	0
LDB3	11155	broad.mit.edu	37	10	88439133	88439133	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:88439133G>A	ENST00000429277.2	+	3	248	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	LDB3_ENST00000310944.6_Missense_Mutation_p.G35S|LDB3_ENST00000352360.5_Missense_Mutation_p.G35S|LDB3_ENST00000372066.3_Missense_Mutation_p.G35S|LDB3_ENST00000361373.4_Missense_Mutation_p.G35S|LDB3_ENST00000372056.4_Missense_Mutation_p.G35S|LDB3_ENST00000263066.6_Missense_Mutation_p.G35S|LDB3_ENST00000458213.2_Missense_Mutation_p.G35S|LDB3_ENST00000542786.1_Missense_Mutation_p.G35S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	35	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATCACACCAGGCAGCAAGGC	0.587000													26	27					0	0	0.005443	0	0
CDKAL1	54901	broad.mit.edu	37	6	21231097	21231097	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:21231097G>A	ENST00000274695.4	+	16	1734	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Missense_Mutation_p.G432R|CDKAL1_ENST00000378610.1_Missense_Mutation_p.G523R	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	523					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.G523R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AAATGGGCTTGGGAACCAGCT	0.463000													20	327					0	0	0.010504	0	0
ZNF493	284443	broad.mit.edu	37	19	21607496	21607496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:21607496C>G	ENST00000392288.2	+	4	2144	c.2035C>G	c.(2035-2037)Cat>Gat	p.H679D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H551D	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H551Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCATACTGAAGA	0.348000													7	36					0	0	0.001984	0	0
ARG2	384	broad.mit.edu	37	14	68114822	68114822	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:68114822C>T	ENST00000261783.3	+	7	961	c.781C>T	c.(781-783)Cca>Tca	p.P261S	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	261					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TACACTGGCTCCAGCCACAGG	0.398000													14	37					0	0	0.002450	0	0
GLI1	2735	broad.mit.edu	37	12	57858641	57858641	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:57858641G>A	ENST00000228682.2	+	4	470	c.379G>A	c.(379-381)Ggc>Agc	p.G127S	GLI1_ENST00000546141.1_Missense_Mutation_p.G86S|GLI1_ENST00000543426.1_5'UTR	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	127					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCTCTCCATTGGCACCATGAG	0.557000													15	57					0	0	0.003163	0	0
SHCBP1	79801	broad.mit.edu	37	16	46649952	46649952	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:46649952G>A	ENST00000303383.3	-	4	768	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	168										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TGCTCCTTCAGATCAAGGAGC	0.517000													19	50					0	0	0.014323	0	0
MASP1	5648	broad.mit.edu	37	3	186969425	186969425	+	Silent	SNP	C	C	T	rs116595107	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:186969425C>T	ENST00000337774.5	-	7	1397	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	MASP1_ENST00000169293.6_Silent_p.L336L|MASP1_ENST00000296280.6_Silent_p.L336L|MASP1_ENST00000392472.2_Silent_p.L223L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.L310L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	336	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTGCACCTTCAGCACTTTGT	0.552000													60	50					0	0	0.014410	0	0
DDN	23109	broad.mit.edu	37	12	49391911	49391911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:49391911G>A	ENST00000421952.2	-	2	769	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	250						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTGGGCACCTGAGAGTTCCCG	0.657000													14	69					0	0	0.001855	0	0
TRPM6	140803	broad.mit.edu	37	9	77354857	77354857	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:77354857A>G	ENST00000451710.3	-	33	5518	c.5281T>C	c.(5281-5283)Tct>Cct	p.S1761P	TRPM6_ENST00000360774.1_Missense_Mutation_p.S1757P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1752P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1752P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S712P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1761P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S594P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1757	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGACCAAGAGGACATGCTT	0.493000													37	50					0	0	0.004878	0	0
ZNF646	9726	broad.mit.edu	37	16	31090756	31090756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:31090756C>T	ENST00000394979.2	+	1	3534	c.3111C>T	c.(3109-3111)tgC>tgT	p.C1037C	ZNF646_ENST00000300850.5_Silent_p.C1037C			O15015	ZN646_HUMAN	zinc finger protein 646	1037					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACAGCCTCTGCATCCAGGGTG	0.597000													37	104					0	0	0.006999	0	0
TRIM6	117854	broad.mit.edu	37	11	5624476	5624476	+	Splice_Site	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:5624476G>A	ENST00000380097.3	+	2	260	c.18G>A	c.(16-18)agG>agA	p.R6R	TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000380107.1_5'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000278302.5_5'UTR|TRIM6_ENST00000445329.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.R6R|HBG2_ENST00000380259.2_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCTACCTAGGATTCTACAGG	0.473000													25	39					0	0	0.003954	0	0
RGS12	6002	broad.mit.edu	37	4	3344756	3344756	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3344756C>T	ENST00000336727.3	+	3	2878	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	RGS12_ENST00000306648.7_Silent_p.I56I|RGS12_ENST00000382788.3_Silent_p.I658I|RGS12_ENST00000344733.5_Silent_p.I658I|RGS12_ENST00000543385.1_Silent_p.I658I	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	658						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTCAGTATCACTCGCTCCC	0.433000													16	65					0	0	0.004007	0	0
UTRN	7402	broad.mit.edu	37	6	145160371	145160371	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:145160371G>A	ENST00000367545.3	+	71	10128	c.10128G>A	c.(10126-10128)ctG>ctA	p.L3376L	UTRN_ENST00000367526.4_Silent_p.L931L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3376					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTCTGCACTGAGCTACTCGC	0.537000													28	60					0	0	0.008361	0	0
CYTH4	27128	broad.mit.edu	37	22	37688736	37688736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:37688736G>A	ENST00000248901.6	+	2	281	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CYTH4_ENST00000439667.1_3'UTR|CYTH4_ENST00000405206.3_Missense_Mutation_p.D32N|CYTH4_ENST00000402997.1_Missense_Mutation_p.D32N	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	32					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCTCCTGGAGGACATCCAGGT	0.617000													23	22					0	0	0.014323	0	0
FGR	2268	broad.mit.edu	37	1	27950343	27950343	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:27950343C>T	ENST00000374005.3	-	3	373	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	FGR_ENST00000468038.1_5'UTR|FGR_ENST00000399173.1_Missense_Mutation_p.G29R|FGR_ENST00000374004.1_Missense_Mutation_p.G29R|FGR_ENST00000545953.1_Missense_Mutation_p.G29R	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	29					platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGCTGCCCCGTAGCTTCTG	0.587000													12	26					0	0	0.010729	0	0
ATP10D	57205	broad.mit.edu	37	4	47565643	47565643	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:47565643C>T	ENST00000273859.3	+	15	2983	c.2714C>T	c.(2713-2715)tCt>tTt	p.S905F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	905					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S905F(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTCCCTGAATCTATAGAAGCT	0.473000													15	50					0	0	0.002450	0	0
LGI2	55203	broad.mit.edu	37	4	25005740	25005740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:25005740G>A	ENST00000382114.4	-	8	1156	c.971C>T	c.(970-972)tCc>tTc	p.S324F		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	324						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATTGGGCTTGGAAATGCGAGA	0.473000													120	78					0	0	0.014410	0	0
BMP5	653	broad.mit.edu	37	6	55739327	55739327	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:55739327T>C	ENST00000370830.3	-	1	1035	c.337A>G	c.(337-339)Aga>Gga	p.R113G	BMP5_ENST00000446683.2_Missense_Mutation_p.R113G	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	113					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATCCCTTTCTTGCCCCTCTG	0.522000													21	92					0	0	0.012319	0	0
ACAN	176	broad.mit.edu	37	15	89401276	89401276	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:89401276G>A	ENST00000439576.2	+	12	5834	c.5460G>A	c.(5458-5460)acG>acA	p.T1820T	ACAN_ENST00000352105.7_Silent_p.T1820T|ACAN_ENST00000559004.1_Silent_p.T1820T|ACAN_ENST00000561243.1_Silent_p.T1820T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1820					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGTACCACGAGTGGCAGCG	0.522000													5	26					0	0	0.001168	0	0
GARNL3	84253	broad.mit.edu	37	9	130083018	130083018	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:130083018G>A	ENST00000373387.4	+	6	880	c.528G>A	c.(526-528)gaG>gaA	p.E176E	GARNL3_ENST00000314904.5_Silent_p.E176E|GARNL3_ENST00000435213.2_Silent_p.E154E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	176					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACAAATTTGAGAAAGGCCCCA	0.358000													8	62					0	0	0.004482	0	0
VPS13B	157680	broad.mit.edu	37	8	100883099	100883099	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:100883099C>T	ENST00000358544.2	+	60	11665	c.11554C>T	c.(11554-11556)Cat>Tat	p.H3852Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.H3827Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3852					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAAACAGCCATGTCAAATA	0.433000													17	60					0	0	0.006122	0	0
QARS	5859	broad.mit.edu	37	3	49137494	49137494	+	Missense_Mutation	SNP	C	C	T	rs143072084	by1000genomes	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49137494C>T	ENST00000306125.6	-	14	1532	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	QARS_ENST00000414533.1_Missense_Mutation_p.E388K			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	399					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTGTGGCCTCGCCCTCTGAA	0.557000													20	82					0	0	0.012319	0	0
CCNC	892	broad.mit.edu	37	6	99994315	99994315	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:99994315C>G	ENST00000520429.1	-	10	1079	c.634G>C	c.(634-636)Gat>Cat	p.D212H	CCNC_ENST00000518714.1_Missense_Mutation_p.D212H|CCNC_ENST00000523799.1_Missense_Mutation_p.D127H|CCNC_ENST00000520371.1_Missense_Mutation_p.D212H|CCNC_ENST00000523985.1_Missense_Mutation_p.D127H|CCNC_ENST00000369220.4_Missense_Mutation_p.D211H	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	212					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TGCCTGGCATCTTTCTGCTGT	0.358000													17	102					0	0	0.008871	0	0
LPA	4018	broad.mit.edu	37	6	160998217	160998217	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:160998217A>G	ENST00000447678.1	-	29	4702	c.4582T>C	c.(4582-4584)Tct>Cct	p.S1528P	LPA_ENST00000316300.5_Missense_Mutation_p.S1528P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4036	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTATCATAGATGACCAAGAT	0.463000													37	144					0	0	0.004878	0	0
OR5T2	219464	broad.mit.edu	37	11	56000467	56000467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:56000467G>C	ENST00000313264.4	-	1	270	c.195C>G	c.(193-195)atC>atG	p.I65M		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GGAAGAAGAAGATAGTCTGCA	0.388000													32	46					0	0	0.008361	0	0
GABARAP	11337	broad.mit.edu	37	17	7145647	7145647	+	Translation_Start_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7145647C>T	ENST00000302386.5	-	1	442	c.3G>A	c.(1-3)atG>atA	p.M1I	GABARAP_ENST00000573928.1_Start_Codon_SNP_p.M1I|CTD-2545G14.7_ENST00000570760.2_Intron	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	1	Interaction with beta-tubulin.				protein targeting|synaptic transmission	autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane	beta-tubulin binding|GABA receptor binding			breast(1)|lung(2)	3						ACACGAACTTCATCCTCCCGG	0.672000													32	7					0	0	0.008361	0	0
EVC2	132884	broad.mit.edu	37	4	5567045	5567045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:5567045C>G	ENST00000310917.2	-	21	4090	c.3359G>C	c.(3358-3360)cGa>cCa	p.R1120P	EVC2_ENST00000344408.5_Missense_Mutation_p.R1200P|EVC2_ENST00000344938.1_Missense_Mutation_p.R1200P	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1200						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGATCTCCTCGCAGTTTGCC	0.507000													7	107					0	0	0.004482	0	0
PMM2	5373	broad.mit.edu	37	16	8941604	8941604	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:8941604C>T	ENST00000268261.4	+	8	729	c.663C>T	c.(661-663)ttC>ttT	p.F221F	RP11-152P23.2_ENST00000567942.1_RNA|PMM2_ENST00000566983.1_Silent_p.F194F|PMM2_ENST00000539622.1_Silent_p.F138F|PMM2_ENST00000537352.1_Silent_p.F96F|PMM2_ENST00000569958.1_Silent_p.F130F	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	221					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATGAGATCTTCACAGACCCCA	0.597000													36	17					0	0	0.004289	0	0
RP1L1	94137	broad.mit.edu	37	8	10465561	10465561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:10465561G>A	ENST00000382483.3	-	4	6270	c.6047C>T	c.(6046-6048)gCc>gTc	p.A2016V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2016					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTGGCTGGGCCTCCTCTTC	0.607000													37	57					0	0	0.004878	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843464	131843464	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:131843464C>T	ENST00000372546.4	+	1	86	c.54C>T	c.(52-54)ctC>ctT	p.L18L	DOLPP1_ENST00000406974.3_Silent_p.L18L|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	18					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CGGTGACCCTCACCCACGTCG	0.682000													8	38					0	0	0.010729	0	0
ABCC1	4363	broad.mit.edu	37	16	16215927	16215927	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:16215927C>T	ENST00000399408.2	+	25	3691	c.3516C>T	c.(3514-3516)gtC>gtT	p.V1172V	ABCC1_ENST00000349029.5_Silent_p.V1047V|ABCC1_ENST00000399410.3_Silent_p.V1162V|ABCC1_ENST00000345148.5_Silent_p.V1162V|ABCC1_ENST00000346370.5_Silent_p.V1106V|ABCC1_ENST00000351154.5_Silent_p.V1103V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1162	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGCTGGGGGTCAGCGTCATTC	0.607000													13	50					0	0	0.013537	0	0
NEFH	4744	broad.mit.edu	37	22	29886470	29886470	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:29886470G>C	ENST00000310624.6	+	4	2874	c.2841G>C	c.(2839-2841)aaG>aaC	p.K947N		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	953	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGCAGAGAAGAAGGAGGCAG	0.512000													15	31					0	0	0.002450	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045930	26045930	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26045930G>A	ENST00000540144.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGAGGCTTGTGAGGCCTACCT	0.577000													15	27					0	0	0.002450	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31946862	31946862	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:31946862G>C	ENST00000357886.4	-	15	1946	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S584C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S507C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.S494C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	598					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCAATATGCAGAAGAGTCCCT	0.517000													15	85					0	0	0.002450	0	0
DUS1L	64118	broad.mit.edu	37	17	80018633	80018633	+	Silent	SNP	C	C	T	rs150777513		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80018633C>T	ENST00000354321.7	-	9	1451	c.966G>A	c.(964-966)gcG>gcA	p.A322A	DUS1L_ENST00000306796.5_Silent_p.A322A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	322					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGTGGGCTTCGCTCCCTCCT	0.687000													5	11					0	0	0.000602	0	0
NUP62	23636	broad.mit.edu	37	19	50412045	50412045	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:50412045C>A	ENST00000596217.1	-	2	2907	c.1020G>T	c.(1018-1020)tgG>tgT	p.W340C	NUP62_ENST00000413454.1_Missense_Mutation_p.W340C|NUP62_ENST00000422090.2_Missense_Mutation_p.W340C|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.W340C|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.W340C			P37198	NUP62_HUMAN	nucleoporin 62kDa	340					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTCCAGGCTCCATTTGTTGA	0.647000													66	99					2.73361e-28	2.90305e-28	0.014410	1	0
PRRC2B	84726	broad.mit.edu	37	9	134340375	134340375	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:134340375G>A	ENST00000357304.4	+	11	1685	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.E544K|PRRC2B_ENST00000405995.1_Missense_Mutation_p.E544K	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	544							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAAGGCAGGTGAGGCCCGGAA	0.612000													5	30					0	0	0.000602	0	0
EN1	2019	broad.mit.edu	37	2	119604241	119604241	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:119604241G>A	ENST00000295206.6	-	1	1013	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	168					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCACAGGAGCGAGGCAGCGCC	0.756000													8	4					0	0	0.003080	0	0
ATRIP	84126	broad.mit.edu	37	3	48506933	48506933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48506933C>G	ENST00000412052.1	+	13	2539	c.2077C>G	c.(2077-2079)Ccc>Gcc	p.P693A	ATRIP_ENST00000346691.4_Missense_Mutation_p.P759A|ATRIP_ENST00000357105.6_Missense_Mutation_p.P659A|TREX1_ENST00000296443.9_5'UTR|ATRIP_ENST00000320211.3_Missense_Mutation_p.P786A	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	786					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTGGAAGACCCCGAGGTGGA	0.587000								Other conserved DNA damage response genes			OREG0015557	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	27					0	0	0.001855	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89545055	89545055	+	RNA	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:89545055G>A	ENST00000468494.1	-	0	24																											CTCATTGTGAGAAGGTGAACT	0.507000													7	40					0	0	0.003080	0	0
TRMT112	51504	broad.mit.edu	37	11	64084577	64084577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:64084577C>T	ENST00000544844.1	-	3	780	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TRMT112_ENST00000535750.1_Missense_Mutation_p.E31K|TRMT112_ENST00000308774.2_Missense_Mutation_p.E70K|TRMT112_ENST00000535126.1_3'UTR|TRMT112_ENST00000539854.1_Missense_Mutation_p.E75K			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	75	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCATTCTCCTCATATCCCTCA	0.617000													27	29					0	0	0.009535	0	0
PAN2	9924	broad.mit.edu	37	12	56720612	56720612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:56720612C>T	ENST00000425394.2	-	7	1427	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	PAN2_ENST00000257931.5_Missense_Mutation_p.E351K|PAN2_ENST00000440411.3_Missense_Mutation_p.E351K|PAN2_ENST00000548043.1_Missense_Mutation_p.E351K	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	351					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACACAGCCCTCAGAATCCCCA	0.562000													28	115					0	0	0.007291	0	0
TMEM214	54867	broad.mit.edu	37	2	27258840	27258840	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:27258840G>A	ENST00000238788.9	+	5	702	c.640G>A	c.(640-642)Gag>Aag	p.E214K	TMEM214_ENST00000404032.3_Missense_Mutation_p.E169K	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	214						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCTCCAGGGGAGTCACTACA	0.527000													12	81					0	0	0.002450	0	0
APEH	327	broad.mit.edu	37	3	49718651	49718651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49718651G>C	ENST00000296456.5	+	15	1817	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	APEH_ENST00000438011.1_Missense_Mutation_p.E473Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	473					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACCCCCAGAGCAAGAGAA	0.617000													26	27					0	0	0.006320	0	0
UPB1	51733	broad.mit.edu	37	22	24917979	24917979	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:24917979C>T	ENST00000413389.2	+	8	2288	c.695C>T	c.(694-696)tCg>tTg	p.S232L	UPB1_ENST00000326010.5_Missense_Mutation_p.S300L|UPB1_ENST00000498140.1_Intron			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	300	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GAGTTTACCTCGGGAGATGGA	0.522000											OREG0026411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	0.003080	0	0
SGSM3	27352	broad.mit.edu	37	22	40805700	40805700	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr22:40805700G>A	ENST00000248929.9	+	22	2376	c.2187G>A	c.(2185-2187)ctG>ctA	p.L729L		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	729					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AGCAGCCCCTGAAGGAGGGCG	0.662000													16	38					0	0	0.010504	0	0
PLEC	5339	broad.mit.edu	37	8	144991306	144991306	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144991306G>A	ENST00000322810.4	-	32	13263	c.13094C>T	c.(13093-13095)tCc>tTc	p.S4365F	PLEC_ENST00000527096.1_Missense_Mutation_p.S4251F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4214F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4255F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4228F|PLEC_ENST00000398774.2_Missense_Mutation_p.S4196F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4232F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4228F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4206F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4365	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGTGATGGAGAGCGTGCC	0.667000													6	33					0	0	0.001168	0	0
RPS4X	6191	broad.mit.edu	37	X	71494974	71494974	+	Missense_Mutation	SNP	C	C	G	rs113141010		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:71494974C>G	ENST00000316084.6	-	4	393	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	RPS4X_ENST00000373626.3_Missense_Mutation_p.E97Q|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	97	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CGGAAATTCTCTCCCGTCTTG	0.483000													10	6					0	0	0.008291	0	0
TXNDC16	57544	broad.mit.edu	37	14	52936858	52936858	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:52936858C>T	ENST00000281741.4	-	16	1886	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	505					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289000													13	83					0	0	0.013537	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952287	144952287	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:144952287C>T	ENST00000369359.4	-	7	881	c.843G>A	c.(841-843)ctG>ctA	p.L281L	PDE4DIP_ENST00000369349.3_Silent_p.L144L|PDE4DIP_ENST00000530740.1_Silent_p.L281L|PDE4DIP_ENST00000369347.4_Silent_p.L144L|PDE4DIP_ENST00000369351.3_Silent_p.L144L|PDE4DIP_ENST00000369356.4_Silent_p.L144L|PDE4DIP_ENST00000313382.9_Silent_p.L210L|PDE4DIP_ENST00000369348.3_Silent_p.L281L|PDE4DIP_ENST00000369354.3_Silent_p.L144L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	144					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGACTCCCTTCAGTTTCTCTG	0.542000			T	PDGFRB	MPD								8	101					0	0	0.010504	0	0
CCL21	6366	broad.mit.edu	37	9	34709845	34709845	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34709845C>G	ENST00000259607.2	-	2	174	c.117G>C	c.(115-117)aaG>aaC	p.K39N	CCL21_ENST00000378792.1_Missense_Mutation_p.K39N	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	39					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGCGGGAATCTTCCTTTGGC	0.592000													61	23					0	0	0.014410	0	0
TCTA	6988	broad.mit.edu	37	3	49449866	49449866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:49449866G>T	ENST00000273590.3	+	1	228	c.7G>T	c.(7-9)Gag>Tag	p.E3*	TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	3						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTCATGGCGGAGTCCTGGTC	0.706000													14	16					1.62849e-17	1.72103e-17	0.004007	1	0
HMCN1	83872	broad.mit.edu	37	1	185703957	185703957	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:185703957C>G	ENST00000271588.4	+	1	275	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	HMCN1_ENST00000367492.2_Missense_Mutation_p.L16V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	16					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTTTGCTCTTCTTTATTCTTC	0.488000													106	108					0	0	0.014410	0	0
DDX20	11218	broad.mit.edu	37	1	112299299	112299299	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:112299299G>A	ENST00000369702.4	+	2	953	c.333G>A	c.(331-333)ggG>ggA	p.G111G	DDX20_ENST00000536167.1_Silent_p.G111G	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	111	Helicase ATP-binding.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCACCGGGAAAACCTGTG	0.428000													21	75					0	0	0.010504	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408667	105408667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:105408667C>T	ENST00000333244.5	-	7	13240	c.13121G>A	c.(13120-13122)gGa>gAa	p.G4374E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4374						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)			GAGGCCGGCTCCCTCATGCAC	0.587000													87	63					0	0	0.014410	0	0
HSF4	3299	broad.mit.edu	37	16	67203215	67203215	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:67203215G>C	ENST00000264009.8	+	14	2253	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	HSF4_ENST00000421453.1_Missense_Mutation_p.E400Q|HSF4_ENST00000521374.1_Missense_Mutation_p.E430Q|HSF4_ENST00000584272.1_Missense_Mutation_p.E400Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	430					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGGTGAGCCTGAGCTGGCGGT	0.597000													6	13					0	0	0.001168	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214971	134214971	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:134214971C>A	ENST00000535456.2	+	4	585	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	GLB1L2_ENST00000339772.7_Missense_Mutation_p.L133M|GLB1L2_ENST00000389881.3_Missense_Mutation_p.L133M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	133					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGGGTGATTCTGCGTCCAGG	0.637000													4	10					0.00909568	0.00920996	0.009096	1	0
KRT39	390792	broad.mit.edu	37	17	39116576	39116576	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:39116576C>G	ENST00000355612.2	-	6	1209	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	392	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGGTAATCTCACATTCCAGC	0.468000													37	90					0	0	0.005524	0	0
RBL2	5934	broad.mit.edu	37	16	53514621	53514621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:53514621C>G	ENST00000262133.6	+	20	3161	c.3024C>G	c.(3022-3024)ttC>ttG	p.F1008L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1008	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATTCAGTTCTACAACAACA	0.453000													94	45					0	0	0.014410	0	0
CDH13	1012	broad.mit.edu	37	16	83817067	83817067	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr16:83817067C>T	ENST00000566620.1	+	13	2414	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	CDH13_ENST00000268613.10_Silent_p.F755F|CDH13_ENST00000428848.3_Silent_p.F669F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	708					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCAGCCTCTTCAGCTTAGCTT	0.522000													29	41					0	0	0.010818	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158626	26158626	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:26158626G>A	ENST00000289316.2	+	1	253	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E77K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E77K(2)|p.E77Q(1)		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						CATCGCAGGCGAGGCTTCCCG	0.612000													45	94					0	0	0.014410	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528701	65528701	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:65528701C>T	ENST00000310193.3	-	3	570	c.397G>A	c.(397-399)Gac>Aac	p.D133N		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	133					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATTCATGTCATGATTTTTT	0.318000													19	121					0	0	0.008871	0	0
SVIL	6840	broad.mit.edu	37	10	29811369	29811369	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:29811369G>A	ENST00000375398.2	-	18	3808	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	SVIL_ENST00000535393.1_Missense_Mutation_p.S18L|SVIL_ENST00000355867.4_Missense_Mutation_p.S1120L|SVIL_ENST00000375400.3_Missense_Mutation_p.S694L			O95425	SVIL_HUMAN	supervillin	1120					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTGCTGGGTGAGTCAAGAAG	0.468000													32	30					0	0	0.013726	0	0
MRPL43	84545	broad.mit.edu	37	10	102746534	102746534	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:102746534C>T	ENST00000318325.2	-	3	490	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000299179.5_Missense_Mutation_p.R146Q|MRPL43_ENST00000342071.1_Missense_Mutation_p.R146Q|MRPL43_ENST00000318364.8_Missense_Mutation_p.R146Q|MRPL43_ENST00000370234.4_Missense_Mutation_p.R146Q|MRPL43_ENST00000370241.3_Missense_Mutation_p.R146Q|MRPL43_ENST00000370236.1_Missense_Mutation_p.R146Q|MRPL43_ENST00000370242.4_Missense_Mutation_p.R146Q	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	146					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CTGAACCTCTCGGGGGCGTAG	0.627000													12	39					0	0	0.001855	0	0
LAMA5	3911	broad.mit.edu	37	20	60908290	60908290	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:60908290G>A	ENST00000252999.3	-	26	3204	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1046	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTGTGTAGAGGAGGCAGC	0.716000													8	18					0	0	0.003080	0	0
CCDC96	257236	broad.mit.edu	37	4	7044015	7044015	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:7044015C>T	ENST00000310085.4	-	1	713	c.651G>A	c.(649-651)caG>caA	p.Q217Q	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	217										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTGCAGCTTCTGGACCTCCT	0.632000													36	22					0	0	0.004289	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860800	34860800	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr21:34860800G>C	ENST00000314399.3	-	2	1339	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	DNAJC28_ENST00000381947.3_Missense_Mutation_p.Q301E|DNAJC28_ENST00000402202.1_Missense_Mutation_p.Q301E	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	301							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						ATGTTTTCTTGAAACTGCTCA	0.353000													103	125					0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58109098	58109098	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:58109098A>T	ENST00000357272.4	+	21	3570	c.3405A>T	c.(3403-3405)aaA>aaT	p.K1135N	FLNB_ENST00000429972.2_Missense_Mutation_p.K1135N|FLNB_ENST00000419752.2_Missense_Mutation_p.K966N|FLNB_ENST00000358537.3_Missense_Mutation_p.K1135N|FLNB_ENST00000493452.1_Missense_Mutation_p.K966N|FLNB_ENST00000295956.4_Missense_Mutation_p.K1135N|FLNB_ENST00000348383.5_Missense_Mutation_p.K1135N|FLNB_ENST00000490882.1_Missense_Mutation_p.K1135N			O75369	FLNB_HUMAN	filamin B, beta	1135	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCCCTCTAAAGTCGTGGCAT	0.592000													73	58					0	0	0.014410	0	0
DLGAP5	9787	broad.mit.edu	37	14	55642735	55642735	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:55642735C>T	ENST00000247191.2	-	9	1267	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	DLGAP5_ENST00000395425.2_Splice_Site_p.D351N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	351					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGACTCATCACTAAAAACA	0.313000													19	60					0	0	0.006122	0	0
PLXNB1	5364	broad.mit.edu	37	3	48447188	48447188	+	Silent	SNP	G	G	A	rs143335184		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48447188G>A	ENST00000358536.4	-	37	6515	c.6246C>T	c.(6244-6246)ctC>ctT	p.L2082L	PLXNB1_ENST00000358459.4_Silent_p.L1899L|PLXNB1_ENST00000456774.1_Silent_p.L1899L|PLXNB1_ENST00000448774.2_Silent_p.L693L|PLXNB1_ENST00000296440.6_Silent_p.L2082L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2082					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCGCGCCCCGAGGTCTCCGG	0.617000													7	17					0	0	0.003080	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713633	138713633	+	Silent	SNP	G	G	A	rs138126670		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:138713633G>A	ENST00000389532.4	-	11	2938	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.L680L|CAMSAP1_ENST00000409386.3_Silent_p.L969L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	958						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTCCTTCACGAGAAAGTCTT	0.562000													115	41					0	0	0.014410	0	0
TYSND1	219743	broad.mit.edu	37	10	71902546	71902546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:71902546G>A	ENST00000287078.6	-	3	1360	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	TYSND1_ENST00000335494.5_Intron|TYSND1_ENST00000494143.1_5'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	454	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						AAGGATGCCTGAGGTCACCGA	0.642000													6	20					0	0	0.001168	0	0
AQP11	282679	broad.mit.edu	37	11	77301461	77301461	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:77301461G>A	ENST00000313578.3	+	1	782	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	142						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTGGAGCTTGGGTCTGACCCA	0.602000													20	29					0	0	0.008871	0	0
MFSD2B	388931	broad.mit.edu	37	2	24236211	24236211	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:24236211G>A	ENST00000338315.4	+	2	153	c.153G>A	c.(151-153)ggG>ggA	p.G51G	MFSD2B_ENST00000406420.3_Silent_p.G51G			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	51					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCATTGGTGGGGTCCCCAACC	0.547000													5	19					0	0	0.000602	0	0
ANO7	50636	broad.mit.edu	37	2	242135138	242135138	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:242135138G>T	ENST00000274979.8	+	4	452	c.349G>T	c.(349-351)Gag>Tag	p.E117*	ANO7_ENST00000402430.3_Nonsense_Mutation_p.E116*|ANO7_ENST00000402530.3_Nonsense_Mutation_p.E116*	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	117						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTCGTTTGGGAGGAGGACCT	0.617000													12	8					4.36969e-10	4.55385e-10	0.001855	1	0
SUPT4H1	6827	broad.mit.edu	37	17	56428800	56428800	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:56428800C>T	ENST00000577396.1	-	2	428	c.16G>A	c.(16-18)Gag>Aag	p.E6K	BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000580947.1_Missense_Mutation_p.E47K|BZRAP1-AS1_ENST00000582348.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|SUPT4H1_ENST00000581540.1_Missense_Mutation_p.E38K|BZRAP1-AS1_ENST00000585236.1_RNA|SUPT4H1_ENST00000225504.3_Missense_Mutation_p.E47K|BZRAP1-AS1_ENST00000579859.1_RNA			P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	47	Interaction with SUPT5H.				chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATACCATCTCTCGGTTACCC	0.408000													26	115					0	0	0.004656	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96657376	96657376	+	Silent	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:96657376G>A	ENST00000456556.1	-	1	165	c.81C>T	c.(79-81)ccC>ccT	p.P27P						ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ACGGTTTAATGGGGTATTGGG	0.498000													6	31					0	0	0.001984	0	0
ACLY	47	broad.mit.edu	37	17	40070105	40070105	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:40070105C>T	ENST00000352035.2	-	2	152	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ACLY_ENST00000353196.1_Missense_Mutation_p.E8K|ACLY_ENST00000393896.2_Missense_Mutation_p.E8K|ACLY_ENST00000537919.1_Missense_Mutation_p.E8K|ACLY_ENST00000590151.1_Missense_Mutation_p.E8K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	8					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGTCTGCTCTGAAATTGCC	0.547000													34	102					0	0	0.004289	0	0
DVL2	1856	broad.mit.edu	37	17	7129501	7129501	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:7129501G>A	ENST00000005340.5	-	15	2176	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W	DVL2_ENST00000575458.1_Missense_Mutation_p.R626W	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	632					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCACCCCGCCGAAGGCTGCCC	0.716000													6	31					0	0	0.004482	0	0
MTHFD1	4522	broad.mit.edu	37	14	64909033	64909033	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:64909033C>G	ENST00000545908.1	+	21	2446	c.2217C>G	c.(2215-2217)atC>atG	p.I739M	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.I683M			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	683	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTTTTAACATCAAATGCCGGT	0.527000													45	74					0	0	0.010771	0	0
TIFAB	497189	broad.mit.edu	37	5	134785161	134785161	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:134785161G>C	ENST00000537858.1	-	2	669	c.469C>G	c.(469-471)Ccc>Gcc	p.P157A		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	157										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACCAGGGGGAGGCTGCCCC	0.582000													18	68					0	0	0.004990	0	0
CAPSL	133690	broad.mit.edu	37	5	35921175	35921175	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:35921175C>G	ENST00000397367.2	-	2	174	c.48G>C	c.(46-48)aaG>aaC	p.K16N	CAPSL_ENST00000514524.1_Missense_Mutation_p.K16N|CAPSL_ENST00000397366.1_Missense_Mutation_p.K16N	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	16						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGAGCTTTTTCTTGGCCTGGA	0.612000													14	35					0	0	0.001855	0	0
SCRIB	23513	broad.mit.edu	37	8	144895820	144895820	+	Missense_Mutation	SNP	C	C	G	rs144081360	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:144895820C>G	ENST00000356994.2	-	4	439	c.433G>C	c.(433-435)Ggg>Cgg	p.G145R	SCRIB_ENST00000320476.3_Missense_Mutation_p.G145R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G64R	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	145	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCCACGTCCCCGGGCAGTGCC	0.642000													9	49					0	0	0.008291	0	0
CUL9	23113	broad.mit.edu	37	6	43181188	43181188	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:43181188G>C	ENST00000252050.4	+	28	5455	c.5371G>C	c.(5371-5373)Gag>Cag	p.E1791Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E1791Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E1681Q|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1791					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGTCAGTAGAGACCTTGCT	0.557000													13	96					0	0	0.001855	0	0
WDR19	57728	broad.mit.edu	37	4	39271675	39271675	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:39271675G>C	ENST00000399820.3	+	31	3592	c.3438G>C	c.(3436-3438)gaG>gaC	p.E1146D	WDR19_ENST00000288634.7_Missense_Mutation_p.E986D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1146					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTCCCTCCGAGATGGCCACCA	0.463000													19	58					0	0	0.006122	0	0
DCAF12	25853	broad.mit.edu	37	9	34125197	34125197	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr9:34125197G>A	ENST00000361264.4	-	2	498	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTGACTTCCCGGTTCTTCAAG	0.453000													75	56					0	0	0.014410	0	0
FOXL2	668	broad.mit.edu	37	3	138665349	138665349	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:138665349C>T	ENST00000330315.3	-	1	633	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	72					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TGAGCCTCTTCTCCGCGCTCT	0.632000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						21	27					0	0	0.012319	0	0
AHNAK	79026	broad.mit.edu	37	11	62297473	62297473	+	Silent	SNP	T	T	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr11:62297473T>C	ENST00000378024.4	-	5	4690	c.4416A>G	c.(4414-4416)acA>acG	p.T1472T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1472					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTTGGAACTGTTACATCAT	0.398000													186	191					0	0	0.014410	0	0
DARS	1615	broad.mit.edu	37	2	136743012	136743012	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:136743012C>T	ENST00000264161.4	-	1	242	c.27G>A	c.(25-27)aaG>aaA	p.K9K	AC093391.2_ENST00000419808.1_RNA|AC093391.2_ENST00000438432.1_RNA|AC093391.2_ENST00000444406.1_RNA|DARS_ENST00000537273.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	9					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)	TCTCCTGACTCTTGCGGCTGG	0.687000													5	1					0	0	0.013537	0	0
AAGAB	79719	broad.mit.edu	37	15	67495178	67495178	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:67495178G>A	ENST00000261880.5	-	10	1033	c.929C>T	c.(928-930)tCa>tTa	p.S310L	AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000561452.1_Missense_Mutation_p.S201L|AAGAB_ENST00000542650.1_Missense_Mutation_p.S201L	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	310					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TTCATCAGATGAAAGGCCTTC	0.448000													13	46					0	0	0.004007	0	0
CD164	8763	broad.mit.edu	37	6	109700850	109700850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:109700850C>T	ENST00000368961.5	-	2	371	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	CD164_ENST00000324953.5_Missense_Mutation_p.R64Q|CD164_ENST00000275080.7_Missense_Mutation_p.R64Q|CD164_ENST00000310786.4_Missense_Mutation_p.R64Q|CD164_ENST00000504373.1_Missense_Mutation_p.R30Q|CD164_ENST00000413644.2_Missense_Mutation_p.R64Q|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000512821.1_Missense_Mutation_p.R64Q			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	64					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GCAGCTGTTTCGACCTTCACA	0.358000													67	65					0	0	0.014410	0	0
COL7A1	1294	broad.mit.edu	37	3	48602351	48602351	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:48602351G>A	ENST00000328333.8	-	117	8790	c.8683C>T	c.(8683-8685)Cgg>Tgg	p.R2895W	COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.R2863W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2895	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACAGCCCGATGGTACCAG	0.622000													13	69					0	0	0.004007	0	0
HERC1	8925	broad.mit.edu	37	15	64005075	64005075	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:64005075C>G	ENST00000443617.2	-	24	4570	c.4483G>C	c.(4483-4485)Gag>Cag	p.E1495Q	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1495					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCCGGCTCTCTGCAGTAAGA	0.398000													8	19					0	0	0.003080	0	0
AP1G2	8906	broad.mit.edu	37	14	24036487	24036487	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:24036487C>T	ENST00000308724.5	-	1	792	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	AP1G2_ENST00000397120.3_Missense_Mutation_p.E13K|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	13					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAATCTCTTCGATGAGGTCC	0.637000											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.001168	0	0
MROH2B	133558	broad.mit.edu	37	5	41009499	41009499	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:41009499C>T	ENST00000399564.4	-	32	3753	c.3303G>A	c.(3301-3303)aaG>aaA	p.K1101K	MROH2B_ENST00000506092.2_Silent_p.K656K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCACAATGTCTTTGTGTCCC	0.473000													23	76					0	0	0.002780	0	0
C14orf159	80017	broad.mit.edu	37	14	91633816	91633816	+	Silent	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:91633816C>T	ENST00000518665.2	+	7	710	c.261C>T	c.(259-261)ctC>ctT	p.L87L	C14orf159_ENST00000412671.2_Intron|C14orf159_ENST00000428926.2_Intron|C14orf159_ENST00000517877.1_3'UTR|C14orf159_ENST00000518868.1_Intron|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000256324.10_Intron|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000298858.4_Silent_p.L87L|C14orf159_ENST00000522322.1_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000523771.1_Intron|C14orf159_ENST00000523816.1_Intron|C14orf159_ENST00000519019.1_Intron			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	87						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGTCCAGCCTCAGGGACCTTC	0.567000													5	32					0	0	0.001984	0	0
MYH7	4625	broad.mit.edu	37	14	23887435	23887435	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr14:23887435C>T	ENST00000355349.3	-	30	4315	c.4153G>A	c.(4153-4155)Gag>Aag	p.E1385K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1385					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCGAGCTCCTCAGTCCGC	0.637000													18	46					0	0	0.006122	0	0
DST	667	broad.mit.edu	37	6	56707877	56707877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:56707877C>A	ENST00000370769.4	-	1	66	c.67G>T	c.(67-69)Gag>Tag	p.E23*	DST_ENST00000370788.2_Nonsense_Mutation_p.E23*|DST_ENST00000361203.3_Nonsense_Mutation_p.E23*|DST_ENST00000421834.2_Nonsense_Mutation_p.E23*|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Nonsense_Mutation_p.E23*			Q03001	DYST_HUMAN	dystonin	23					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGACATCCTCGTAGGCCTGG	0.552000													10	17					2.80697e-09	2.91689e-09	0.010729	1	0
PIGK	10026	broad.mit.edu	37	1	77588010	77588010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:77588010delC	ENST00000370812.3	-	10	1044	c.1021delG	c.(1021-1023)gaafs	p.E341fs	PIGK_ENST00000370813.5_Frame_Shift_Del_p.E265fs|PIGK_ENST00000445065.1_Frame_Shift_Del_p.E247fs	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	341					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TTCAGAGGTTCCATTAGTTTC	0.313													21	99	---	---	---	---					
HIST3H2A	92815	broad.mit.edu	37	1	228645368	228645386	+	Frame_Shift_Del	DEL	AGACCGGGGCGCCGGCGCC	AGACCGGGGCGCCGGCGCC	-	rs143327597	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr1:228645368_228645386delAGACCGGGGCGCCGGCGCC	ENST00000366695.2	-	1	174_192	c.133_151delGGCGCCGGCGCCCCGGTCT	c.(133-153)ggcgccggcgccccggtctatfs	p.GAGAPVY45fs		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	45					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGGCCAGATAGACCGGGGCGCCGGCGCCCACGCGCTCC	0.703													7	10	---	---	---	---					
FOSL2	2355	broad.mit.edu	37	2	28634949	28634950	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:28634949_28634950insCT	ENST00000264716.4	+	4	1478_1479	c.615_616insCT	c.(616-618)ctgfs	p.L206fs	FOSL2_ENST00000545753.1_Frame_Shift_Ins_p.L167fs|FOSL2_ENST00000379619.1_Frame_Shift_Ins_p.L198fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	206					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCTGGGCTGCAGCCCAT	0.663													23	93	---	---	---	---					
POU3F3	5455	broad.mit.edu	37	2	105473173	105473180	+	Frame_Shift_Del	DEL	CGCAGGGC	CGCAGGGC	-	rs140129722		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:105473173_105473180delCGCAGGGC	ENST00000361360.2	+	1	1205_1212	c.1205_1212delCGCAGGGC	c.(1204-1212)gcgcagggcfs	p.AQG402fs	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	402					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						AAGATCGCGGCGCAGGGCCGCAAGCGCA	0.625													12	26	---	---	---	---					
MAP3K19	80122	broad.mit.edu	37	2	135740758	135740759	+	Translation_Start_Site	INS	-	-	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr2:135740758_135740759insT	ENST00000315513.3	-	0	3535_3536				MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Frame_Shift_Ins_p.D1139fs|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron					mitogen-activated protein kinase kinase kinase 19																		acctctcttcatcgcccacccc	0.366													33	69	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52584525	52584526	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:52584525_52584526delCC	ENST00000356770.4	-	27	4549_4550	c.4547_4548delGG	c.(4546-4548)cggfs	p.R1516fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.R1496fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.R1603fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.R1566fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.R1548fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.R1511fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.R1523fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.R1496fs			Q86U86	PB1_HUMAN	polybromo 1	1603	Pro-rich.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTGAAGAAGCCGCTGGGTCTT	0.545			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								15	65	---	---	---	---					
AMOTL2	51421	broad.mit.edu	37	3	134077396	134077397	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr3:134077396_134077397insT	ENST00000514516.1	-	9	2618_2619	c.2440_2441insA	c.(2440-2442)agafs	p.R814fs	AMOTL2_ENST00000422605.2_Frame_Shift_Ins_p.R756fs|AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.R754fs|AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.R757fs	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	756										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGAGGCTGCTCTCTGGCTACTG	0.629											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44	---	---	---	---					
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)caafs	p.Q219fs	GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs|GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393													7	370	---	---	---	---					
COPS4	51138	broad.mit.edu	37	4	83978470	83978477	+	Frame_Shift_Del	DEL	CAATGAGC	CAATGAGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr4:83978470_83978477delCAATGAGC	ENST00000509093.1	+	6	1402_1409	c.624_631delCAATGAGC	c.(622-633)tacaatgagctcfs	p.NEL209fs	COPS4_ENST00000264389.2_Frame_Shift_Del_p.NEL209fs|COPS4_ENST00000511653.1_Frame_Shift_Del_p.NEL209fs|COPS4_ENST00000503682.1_Frame_Shift_Del_p.NEL209fs	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	209	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CACAAAGGTACAATGAGCTCTCTTACAA	0.365													33	48	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127647056	127647056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr5:127647056delA	ENST00000508053.1	-	45	5984	c.5010delT	c.(5008-5010)tttfs	p.F1670fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.F1670fs			P35556	FBN2_HUMAN	fibrillin 2	1670	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAAGCTCCCAAAAGTGTTGA	0.483													12	44	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31602048	31602062	+	In_Frame_Del	DEL	GGGCTCTAAGCCTGA	GGGCTCTAAGCCTGA	-	rs139245110		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:31602048_31602062delGGGCTCTAAGCCTGA	ENST00000376033.2	+	19	4989_5003	c.4755_4769delGGGCTCTAAGCCTGA	c.(4753-4770)ttgggctctaagcctgag>ttg	p.GSKPE1586del	PRRC2A_ENST00000376007.4_In_Frame_Del_p.GSKPE1586del	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1586	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGC	0.512													61	509	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129674397	129674412	+	Frame_Shift_Del	DEL	CCCTGTGACCCTGTCA	CCCTGTGACCCTGTCA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr6:129674397_129674412delCCCTGTGACCCTGTCA	ENST00000421865.2	+	32	4661_4676	c.4612_4627delCCCTGTGACCCTGTCA	c.(4612-4629)ccctgtgaccctgtcacafs	p.PCDPVT1538fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1538	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG	0.583													23	62	---	---	---	---					
AC007091.1	0	broad.mit.edu	37	7	19459481	19459484	+	RNA	DEL	AAGG	AAGG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:19459481_19459484delAAGG	ENST00000412563.1	+	0	356																											gaaagaaggaaaggaaggaaggaa	0.426													3	4	---	---	---	---					
ZNF804B	219578	broad.mit.edu	37	7	88965470	88965471	+	Frame_Shift_Ins	INS	-	-	ATCC			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr7:88965470_88965471insATCC	ENST00000333190.4	+	4	3783_3784	c.3174_3175insATCC	c.(3175-3177)atcfs	p.-1059fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B							intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAATTAGTGAAATCCAACCTTT	0.356										HNSCC(36;0.09)			24	91	---	---	---	---					
LOC102724710	102724710	broad.mit.edu	37	8	93591561	93591562	+	RNA	INS	-	-	TTTC	rs34835405		TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr8:93591561_93591562insTTTC	ENST00000523284.1	-	0	395																											ctttctttctttttctttcttt	0.312													4	4	---	---	---	---					
HERC4	26091	broad.mit.edu	37	10	69748513	69748513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:69748513delC	ENST00000395198.3	-	15	1960	c.1713delG	c.(1711-1713)ttgfs	p.L571fs	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Frame_Shift_Del_p.L461fs|HERC4_ENST00000412272.2_Frame_Shift_Del_p.L571fs|HERC4_ENST00000373700.4_Frame_Shift_Del_p.L571fs	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	571					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TGTAGAGTTTCAAAAGATGTA	0.343													57	176	---	---	---	---					
CHUK	1147	broad.mit.edu	37	10	101953863	101953865	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr10:101953863_101953865delTCT	ENST00000370397.7	-	18	1936_1938	c.1850_1852delAGA	c.(1849-1854)aagatt>att	p.K617del	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	617					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGATCAATAATCTTCTGCTTACA	0.433													41	44	---	---	---	---					
AVIL	10677	broad.mit.edu	37	12	58191766	58191783	+	Splice_Site	DEL	CAGAGAGGTAATTCTAAG	CAGAGAGGTAATTCTAAG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:58191766_58191783delCAGAGAGGTAATTCTAAG	ENST00000537081.1	-	19	2325_2337	c.2326_2338delCTTAGAATTACCTCTCTG	c.(2326-2340)cttagaattacctct>ct	p.LRITS776del	TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron|AVIL_ENST00000257861.3_Splice_Site_p.LRITS783del|TSFM_ENST00000543727.1_Intron			O75366	AVIL_HUMAN	advillin	783	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AAGTCCTGTTCAGAGAGGTAATTCTAAGAGAGAAAACA	0.436													20	56	---	---	---	---					
SLC25A3	5250	broad.mit.edu	37	12	98995210	98995211	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr12:98995210_98995211delTA	ENST00000188376.5	+	7	1344_1345	c.990_991delTA	c.(988-993)tttatcfs	p.I331fs	SLC25A3_ENST00000401722.3_Frame_Shift_Del_p.I331fs|SLC25A3_ENST00000552981.1_Frame_Shift_Del_p.I331fs|SLC25A3_ENST00000549338.1_Frame_Shift_Del_p.I331fs|SLC25A3_ENST00000551917.1_Frame_Shift_Del_p.I332fs|SLC25A3_ENST00000228318.3_Frame_Shift_Del_p.I332fs|SLC25A3_ENST00000548847.1_Frame_Shift_Del_p.I294fs	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	332					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TACAGTGGTTTATCTATGACTC	0.460													81	121	---	---	---	---					
MIPEP	4285	broad.mit.edu	37	13	24411850	24411850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr13:24411850delC	ENST00000382172.3	-	13	1482	c.1384delG	c.(1384-1386)gacfs	p.D462fs		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	462					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGTTGATAGTCTCCATCTTCC	0.393													24	117	---	---	---	---					
GREM1	26585	broad.mit.edu	37	15	33023246	33023247	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr15:33023246_33023247insA	ENST00000300177.4	+	2	544_545	c.355_356insA	c.(355-357)tacfs	p.Y119fs	GREM1_ENST00000322805.4_Frame_Shift_Ins_p.Y78fs|GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000560830.1_Frame_Shift_Ins_p.Y78fs	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	119	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		CCGCTTCTGTTACGGCCAGTGC	0.535													43	61	---	---	---	---					
TRAF4	9618	broad.mit.edu	37	17	27075334	27075357	+	In_Frame_Del	DEL	GCCCGCATGATGCGGCGGCTGCTG	GCCCGCATGATGCGGCGGCTGCTG	-	rs78085629	byFrequency	TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG	ENST00000262395.5	+	5	646_669	c.517_540delGCCCGCATGATGCGGCGGCTGCTG	c.(517-540)gcccgcatgatgcggcggctgctgdel	p.ARMMRRLL173del	TRAF4_ENST00000444415.3_In_Frame_Del_p.ARMMRRLL173del|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	173			A -> T (in dbSNP:rs35932778).		apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TAAGTGTGGTGCCCGCATGATGCGGCGGCTGCTGGCCCAGCATG	0.576													10	39	---	---	---	---					
MAPT	4137	broad.mit.edu	37	17	44096051	44096072	+	Frame_Shift_Del	DEL	GTCCCTGGACAATATCACCCAC	GTCCCTGGACAATATCACCCAC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:44096051_44096072delGTCCCTGGACAATATCACCCAC	ENST00000344290.5	+	14	2392_2413	c.2070_2091delGTCCCTGGACAATATCACCCAC	c.(2068-2091)gggtccctggacaatatcacccacfs	p.GSLDNITH690fs	MAPT_ENST00000576518.1_Frame_Shift_Del_p.GSLDNITH255fs|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000262410.5_Frame_Shift_Del_p.GSLDNITH672fs|MAPT_ENST00000340799.5_Frame_Shift_Del_p.GSLDNITH326fs|MAPT_ENST00000351559.5_Frame_Shift_Del_p.GSLDNITH355fs|MAPT_ENST00000535772.1_Frame_Shift_Del_p.GSLDNITH324fs|MAPT_ENST00000431008.3_Frame_Shift_Del_p.GSLDNITH324fs|MAPT_ENST00000571987.1_Frame_Shift_Del_p.GSLDNITH672fs|MAPT_ENST00000420682.2_Frame_Shift_Del_p.GSLDNITH326fs|MAPT_ENST00000415613.2_Frame_Shift_Del_p.GSLDNITH690fs|MAPT_ENST00000347967.5_Frame_Shift_Del_p.GSLDNITH230fs|MAPT_ENST00000574436.1_Frame_Shift_Del_p.GSLDNITH355fs|MAPT_ENST00000446361.3_Frame_Shift_Del_p.GSLDNITH297fs|MAPT_ENST00000334239.8_Frame_Shift_Del_p.GSLDNITH266fs	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	672					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.H679N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCG	0.500													25	116	---	---	---	---					
WDR45B	56270	broad.mit.edu	37	17	80588887	80588889	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr17:80588887_80588889delCTT	ENST00000392325.4	-	3	346_348	c.152_154delAAG	c.(151-156)gaagga>gga	p.E51del	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2			WD repeat domain 45B																		CCAACTCCTCCTTCTAGAAATTC	0.335													55	181	---	---	---	---					
RBBP8	5932	broad.mit.edu	37	18	20596832	20596833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr18:20596832_20596833insC	ENST00000399722.2	+	17	2750_2751	c.2399_2400insC	c.(2398-2403)cggaaafs	p.K801fs	RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K801fs|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K806fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	801					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGTGGTTCGGAAAAAAGAGG	0.351								Homologous recombination					9	35	---	---	---	---					
CC2D1A	54862	broad.mit.edu	37	19	14037992	14037992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr19:14037992delC	ENST00000318003.7	+	22	2471	c.2230delC	c.(2230-2232)ctgfs	p.L744fs	CC2D1A_ENST00000589606.1_Frame_Shift_Del_p.L744fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	744	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACACAGGGGGCTGTTCAAGAC	0.602													8	125	---	---	---	---					
NCOA5	57727	broad.mit.edu	37	20	44691177	44691186	+	Frame_Shift_Del	DEL	GGTCTGGGGC	GGTCTGGGGC	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chr20:44691177_44691186delGGTCTGGGGC	ENST00000290231.6	-	8	1657_1666	c.1493_1502delGCCCCAGACC	c.(1492-1503)ggccccagacctfs	p.GPRP498fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	498	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGGAGCCCCAGGTCTGGGGCCCATGTTCTG	0.557													24	60	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44969394	44969418	+	Frame_Shift_Del	DEL	AAGATTGTGCACGAAAAACAAGCGG	AAGATTGTGCACGAAAAACAAGCGG	-			TCGA-DK-A1AC-01A-11D-A13W-08	TCGA-DK-A1AC-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5dc17f5-abda-4534-b0f8-34b59ed4faa3	97693ada-dce8-411a-9d14-8e38af034240	g.chrX:44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG	ENST00000377967.4	+	28	4117_4141	c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG	c.(4075-4101)caagattgtgcacgaaaaacaagcggafs	p.QDCARKTSG1359fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.QDCARKTSG1314fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.QDCARKTSG1280fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.QDCARKTSG1366fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1359					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						GTACATTGCCAAGATTGTGCACGAAAAACAAGCGGAAACTTGGAA	0.364			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								24	36	---	---	---	---