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
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582000													5	305					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													6	124					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.V28G	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	283	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGTTCTGTGTGAAGACAGCC	0.657000													20	26					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591888G>T	ENST00000342988.3	+	9	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438000													4	62					0.00116845	0.00118382	1	1	0
MADCAM1	8174	broad.mit.edu	37	19	504757	504757	+	Missense_Mutation	SNP	C	C	T	rs145604202		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:504757C>T	ENST00000587541.1	+	3	1138	c.284C>T	c.(283-285)gCg>gTg	p.A95V	MADCAM1_ENST00000215637.3_Missense_Mutation_p.A314V|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Missense_Mutation_p.A132V|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A227V			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-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)		TCCAAACCTGCGGGTGACCAG	0.672000													4	175					0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	196					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGCACCAGCACGTCCCCTGGC	0.517000													8	15					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:78987846C>T	ENST00000436010.2	-	2	1284	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	135	Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTTTCCGTCCATGTACTAT	0.473000													19	26					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933375	39933375	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:39933375C>T	ENST00000342274.4	-	4	1586	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	BCOR_ENST00000378444.4_Silent_p.G408G|BCOR_ENST00000378455.4_Silent_p.G408G|BCOR_ENST00000397354.3_Silent_p.G408G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	408					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGGGCATGCCCGGGCACTG	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	29					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:92195471C>T	ENST00000212355.4	-	6	1093	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	210					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGTACTCAGCAAGGTAATTG	0.473000													53	101					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39624518	39624518	+	Silent	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398000													96	121					0	0	1	0	0
ANKRD20A5P	0	broad.mit.edu	37	18	14184231	14184231	+	RNA	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:14184231A>G	ENST00000581935.1	+	0	920																				lung(3)	3						ATAATTGTCTAAGATTTTATT	0.259000													3	23					0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42390823	42390823	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:42390823G>A	ENST00000426726.3	+	4	684	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R137H|RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R132H|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	137	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGAGAAGCGCATGTCAGAA	0.572000													15	39					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958485	50958485	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:50958485G>A	ENST00000357701.5	+	19	2186	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	712	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TATGAGATGCGTGTCTTCGCC	0.502000													66	110					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25215907	25215907	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:25215907G>A	ENST00000404969.1	+	1	19	c.19G>A	c.(19-21)Gca>Aca	p.A7T				P10826	RARB_HUMAN	retinoic acid receptor, beta	7	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGCGGCCACGCATGTCCGGT	0.552000													78	123					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	110					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3959636	3959636	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:3959636T>C	ENST00000381638.2	-	33	5293	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1723							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						CTTCACTCCATTGGCTGAAAG	0.443000													31	48					0	0	1	0	0
HAUS1	115106	broad.mit.edu	37	18	43685267	43685267	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	HAUS1_ENST00000585518.1_Silent_p.V46V	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCAACAGGGTCCGGGACAGGG	0.433000													23	13					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:44639788C>A	ENST00000372330.3	+	5	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCAGTGGTTCCAACTCGGTTT	0.637000													176	308					6.2965e-74	7.02653e-74	1	1	0
CAMK2D	817	broad.mit.edu	37	4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:114469847C>A	ENST00000454265.2	-	6	1238	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	127	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTAGGTGACAATGATTAAC	0.378000													28	39					2.47511e-08	2.57545e-08	1	1	0
GOLGA6D	653643	broad.mit.edu	37	15	75580623	75580623	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:75580623G>A	ENST00000434739.3	+	7	523	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	161										kidney(1)|lung(1)	2						CTGGCTGGCCGCCTGCAATAC	0.527000													49	11					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803339	803339	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr11:803339G>A	ENST00000347755.5	-	3	685	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PIDD_ENST00000411829.2_Missense_Mutation_p.R182C	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	182					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GTCTGCAGGCGGTTGTGTGTC	0.637000													50	69					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591901A>T	ENST00000342988.3	+	9	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428000													37	25					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:3686562C>T	ENST00000344754.4	-	3	534	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	179	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCAGGGTCCTGGCCTTGC	0.632000													77	117					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:47696643A>C	ENST00000393331.3	-	6	775	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408000										Prostate(2;0.17)			53	58					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255843	150255843	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:150255843C>T	ENST00000290363.5	+	1	615	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56W|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	56										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	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)			GGGAGGTTCACGGCCCAGCCC	0.602000													5	340					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:51359573G>C	ENST00000360617.3	+	2	124	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	42	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGTGCTTGTGGCCTCTCG	0.642000													7	224					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:108999454C>T	ENST00000379951.2	-	7	2034	c.846G>A	c.(844-846)atG>atA	p.M282I	LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I|LEF1_ENST00000503879.1_5'UTR	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	310					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCATTTCTTTCATGTATAACA	0.433000													195	266					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:101797243T>G	ENST00000251127.6	-	16	1925	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	615						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACTTTGCTTTAACTAAAG	0.328000													8	250					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622000													39	18					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	540					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTCATAATAGAAGTACAAT	0.348000													3	74					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:39377007G>A	ENST00000545653.1	-	11	2349	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	DAB2_ENST00000509337.1_Missense_Mutation_p.P607S|DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	628					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTGGGAGGGCCAGCTCTG	0.522000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	182					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	736					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGAAAAAGTGTGACCAAAGAA	0.328000													23	3					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	124					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCGAAAGCCACAAAGCCAAA	0.463000													5	170					0	0	1	0	0
TRBV6-8	0	broad.mit.edu	37	7	142124389	142124389	+	RNA	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:142124389T>C	ENST00000390376.2	-	0	88																											CTTCAGGATGTGGAATTTTGG	0.522000													4	147					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:112889507C>T	ENST00000161863.4	+	15	2221	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACATCCGATCAAAAGAAAGT	0.303000													19	26					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261742	39261742	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:39261742C>T	ENST00000391415.1	+	1	159	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	34	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGACCACCTGCTGCAGGACCA	0.652000													7	78					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57738847	57738847	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:57738847C>T	ENST00000360716.3	+	7	980	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_ENST00000394337.4_Silent_p.D253D|CCDC135_ENST00000336825.8_Silent_p.D188D			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	253						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCAGGGACCTGTGCAGCA	0.562000													28	63					0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30124727	30124727	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:30124727G>A	ENST00000406256.3	-	1	450	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	25					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGATGAGGCCGGCGCAGGAAG	0.637000													5	361					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	379	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTAGGAAACTTCGAAGGGC	0.458000													91	165					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797768	185797768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:185797768G>A	ENST00000306376.5	-	7	734	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.A163V|ETV5_ENST00000537818.1_Missense_Mutation_p.A205V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	163					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTGCAGGGGCATGCCCTGA	0.637000			T	"""TMPRSS2, SCL45A3"""	Prostate								4	107					0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215868	21215868	+	Silent	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:21215868A>G	ENST00000326842.2	+	2	256	c.129A>G	c.(127-129)cgA>cgG	p.R43R		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCCAAGTCGAGAATTCAAAG	0.378000													44	87					0	0	1	0	0
SPATA31D5P	0	broad.mit.edu	37	9	84533044	84533044	+	RNA	SNP	T	T	C	rs530720	by1000genomes	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:84533044T>C	ENST00000527857.1	+	0	3066					NR_026851.1																						TTTTCTGATATTGACCATGAC	0.458000													4	50					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	55					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.T55M(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AACGTGACGACGCTTAGTCTG	0.637000													70	80					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H	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)	284					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TTGGGCTGGTAGGATAAGCCG	0.532000													41	82					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:45207372C>G	ENST00000587331.1	+	4	682	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	156										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGCAGCAGCCCCAGCCCCACC	0.687000													7	16					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:37681027T>C	ENST00000447079.4	+	12	3229	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1066					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCCAAAACTTCTCGAAAAGA	0.557000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			71	135					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144837472	144837472	+	Silent	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:144837472T>C	ENST00000367545.3	+	37	5352	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1784					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)		ACATAGAAAATATGTTAAAAT	0.353000													45	63					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91674411	91674411	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:91674411G>T	ENST00000359028.2	+	22	5513	c.5288G>T	c.(5287-5289)cGc>cTc	p.R1763L	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1751L|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1763L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1763					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)			ACAATTGGTCGCCATGTCCTT	0.408000			T	BRAF	papillary thyroid								44	87					3.54909e-21	3.79555e-21	1	1	0
CNN1	1264	broad.mit.edu	37	19	11649778	11649778	+	Silent	SNP	C	C	T	rs139463864		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:11649778C>T	ENST00000252456.2	+	1	247	c.36C>T	c.(34-36)taC>taT	p.Y12Y	CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	12					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCTGCCTACGGGCTGTCAG	0.672000													26	40					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138392971	138392971	+	Splice_Site	SNP	T	T	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:138392971T>A	ENST00000371785.1	+	3	378		c.e3+2		C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000488610.1_Splice_Site|MRPS2_ENST00000241600.5_Splice_Site			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2						translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACAGCACCGGTAACACTGGGC	0.706000													3	6					0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46032604	46032604	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:46032604C>A	ENST00000323060.3	-	2	330	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	85					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATGCCCTCGCCCAGCAGCTCC	0.627000													111	118					9.53466e-49	1.04881e-48	1	1	0
C1S	716	broad.mit.edu	37	12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S			P09871	C1S_HUMAN	complement component 1, s subcomponent	233	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCAGCGGGAAACTGCCTTGAC	0.453000													45	88					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985717	108985717	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:108985717C>T	ENST00000392806.3	-	2	611	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	148						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGAAggcccgggggccccc	0.677000													25	35					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49517861	49517861	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:49517861G>T	ENST00000413176.2	+	12	2134		c.e12+1		RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000595090.1_Splice_Site			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		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)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCCGCATCCGGTGCGGGCAGG	0.632000													37	67					1.67305e-13	1.76472e-13	1	1	0
SLC4A9	83697	broad.mit.edu	37	5	139743379	139743379	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:139743379C>T	ENST00000230993.6	+	9	1253	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SLC4A9_ENST00000506757.2_Silent_p.D382D|SLC4A9_ENST00000506545.1_Silent_p.D382D|SLC4A9_ENST00000507527.1_Silent_p.D406D|SLC4A9_ENST00000432095.2_Silent_p.D371D	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	406						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCTTGGACGCCCTGCATC	0.582000											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	47					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152265313	152265313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:152265313C>T	ENST00000440973.1	+	6	1136	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ESR1_ENST00000443427.1_Nonsense_Mutation_p.R256*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.R256*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.R256*|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000544394.1_Nonsense_Mutation_p.R83*|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000456483.2_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	256	Hinge.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTCAGGGATACGAAAAGACCG	0.413000													51	87					0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864068	102864068	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:102864068G>A	ENST00000372628.1	+	3	434	c.76G>A	c.(76-78)Gat>Aat	p.D26N	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.D26N|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D26N			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	26	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						agagcctgatgatgaaggaaa	0.483000													32	6					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACAAATATTATCGAGTAC	0.328000													24	33					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6822295	6822295	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:6822295C>G	ENST00000304076.2	+	5	607	c.513C>G	c.(511-513)gaC>gaG	p.D171E	VAV1_ENST00000602142.1_Missense_Mutation_p.D171E|VAV1_ENST00000599806.1_Missense_Mutation_p.D116E|VAV1_ENST00000596764.1_Missense_Mutation_p.D171E|VAV1_ENST00000539284.1_Missense_Mutation_p.D106E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	171					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						CGGAAGGCGACGAGATCTATG	0.662000													4	5					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151935890	151935890	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:151935890T>C	ENST00000355193.2	-	15	2772	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	KMT2C_ENST00000262189.6_Missense_Mutation_p.T852A					lysine (K)-specific methyltransferase 2C																		GGGCTCACTGTATTATGGGTA	0.453000													53	87					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr22:38883946T>C	ENST00000396821.3	-	12	1721	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	462					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GATAGCCTGATTGGCCTCTTC	0.547000													77	103					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:17777528T>C	ENST00000378814.5	-	33	4110	c.4111A>G	c.(4111-4113)Agt>Ggt	p.S1371G	KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1384					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)			TTTGGTGTACTGAGGCTCCTC	0.453000													9	17					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713451	46713451	+	Silent	SNP	C	C	T			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:46713451C>T	ENST00000318962.4	-	24	2690	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ALS2CL_ENST00000383742.3_Silent_p.S216S|ALS2CL_ENST00000415953.1_Silent_p.S869S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	869	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAATACCCTCGACACCGTGC	0.642000													7	139					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:138611047C>G	ENST00000251691.4	+	18	3155	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	997					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGGCCATCCTCAGCGTAGG	0.602000													39	59					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	307					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GATGGAGAAGGTGACCAGCAC	0.587000													37	55					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:55538531_55538532delAC	ENST00000294383.6	-	65	7528_7529	c.7529_7530delGT	c.(7528-7530)tfs	p.C2510fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs|USP24_ENST00000484447.1_5'UTR	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2510					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGCTGCAGGACACCTGATGAC	0.406													7	20	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910768	2910769	+	RNA	INS	-	-	T	rs142585959	by1000genomes	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698													3	6	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					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)		gtggtggtgatggtggtggtggt	0.502													8	411	---	---	---	---					
IL6ST	3572	broad.mit.edu	37	5	55259975	55259975	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:55259975delT	ENST00000381298.2	-	6	969	c.658_splice	c.e6+1	p.K219_splice	IL6ST_ENST00000536319.1_Splice_Site_p.K219_splice|IL6ST_ENST00000336909.5_Splice_Site_p.K219_splice|IL6ST_ENST00000502326.3_Splice_Site_p.K219_splice|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381287.4_Splice_Site_p.K219_splice|IL6ST_ENST00000522633.2_Splice_Site_p.K219_splice|IL6ST_ENST00000381294.3_Splice_Site_p.K219_splice	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	219					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAACTACCTTTATATACAG	0.294			O		hepatocellular ca								9	23	---	---	---	---					
IRF4	3662	broad.mit.edu	37	6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:397192_397193insAA	ENST00000380956.4	+	5	703_704	c.577_578insAA	c.(577-579)atgfs	p.M193fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	193					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AATCCCGTACCAATGTCCCATG	0.554			T	IGH@	MM								119	161	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													7	639	---	---	---	---					
VLDLR	7436	broad.mit.edu	37	9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:2643660_2643661delTG	ENST00000382100.2	+	6	1209_1210	c.853_854delTG	c.(853-855)tfs	p.C285fs	VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	285	LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCAATTTGAATGTGAGGATGGC	0.485													40	43	---	---	---	---					
MYO16	23026	broad.mit.edu	37	13	109793290	109793290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:109793290delC	ENST00000356711.2	+	32	4790	c.4664delC	c.(4663-4665)tcfs	p.S1555fs	MYO16_ENST00000357550.2_Frame_Shift_Del_p.S1555fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1555	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGCCCGCGTCCCCCGGCCTG	0.776													2	4	---	---	---	---