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	uc001kux.2	+	11	1553	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Missense_Mutation_p.R420H|GBF1_uc001kuz.2_Missense_Mutation_p.R421H	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	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
AK022914	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	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		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	uc003okk.3	+	5	887	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_uc010jvs.3_Missense_Mutation_p.V283G|DEF6_uc010jvt.3_Missense_Mutation_p.V28G	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	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
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	uc003avy.4	-	11	1725	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.N541S	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	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
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	uc001lro.2	-	2	691	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Missense_Mutation_p.R36C|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Missense_Mutation_p.R36C|PIDD_uc001lrk.2_Missense_Mutation_p.R182C|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	182					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GTCTGCAGGCGGTTGTGTGTC	0.637000													50	69					0	0	1	0	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	uc002los.3	+	4	951	c.941C>T	c.(940-942)gCg>gTg	p.A314V	MADCAM1_uc002lot.3_Missense_Mutation_p.A227V|MADCAM1_uc010drq.3_Missense_Mutation_p.A132V|TPGS1_uc002lou.3_5'Flank	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	314	Mucin-like.				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	uc001imk.3	-	5	963	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_uc001imh.3_Missense_Mutation_p.V120M|SEPHS1_uc010qbs.2_Missense_Mutation_p.V148M|SEPHS1_uc010qbt.2_Missense_Mutation_p.V129M|SEPHS1_uc021pnc.1_Missense_Mutation_p.V196M|SEPHS1_uc021pnd.1_Missense_Mutation_p.V196M|SEPHS1_uc009xje.3_Missense_Mutation_p.V196M	NM_012247	NP_001182531	P49903	SPS1_HUMAN	Homo sapiens selenophosphate synthetase 1 (SEPHS1), transcript variant 1, mRNA.	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	uc003dqe.2	-	3	612	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ROBO1_uc003dqc.2_Missense_Mutation_p.G96E|ROBO1_uc003dqd.2_Missense_Mutation_p.G96E|ROBO1_uc003dqb.2_Missense_Mutation_p.G96E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	135	Ig-like C2-type 1.				Roundabout signaling pathway|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	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein 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
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	uc001doh.3	-	5	1143	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Missense_Mutation_p.A168T|TGFBR3_uc001doi.3_Missense_Mutation_p.A210T|TGFBR3_uc001doj.3_Missense_Mutation_p.A210T	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	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	PDZ domain binding|SMAD binding|coreceptor activity|heparin 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	uc003xnj.3	-	13	1431	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_uc003xnk.3_Silent_p.C433C|ADAM2_uc011lck.2_Silent_p.C452C|ADAM2_uc003xnl.3_Silent_p.C326C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E451*(1)		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
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	uc002igl.4	+	3	684	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RUNDC3A_uc002igi.3_Missense_Mutation_p.R137H|RUNDC3A_uc002igj.3_Missense_Mutation_p.R132H	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	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	uc002psf.2	+	18	2186	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	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	uc011awl.2	+	0	85	c.19G>A	c.(19-21)Gca>Aca	p.A7T		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	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	p.D6N(1)		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
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	uc010bfk.2	-	7	2506	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	CCPG1_uc002acy.3_Missense_Mutation_p.H736R|CCPG1_uc002acu.2_Missense_Mutation_p.H592R|CCPG1_uc002acz.2_Missense_Mutation_p.H736R|CCPG1_uc002acw.2_Missense_Mutation_p.H461R|CCPG1_uc002acx.3_Missense_Mutation_p.H353R|CCPG1_uc002acv.2_Missense_Mutation_p.H736R|CCPG1_uc021smu.1_Missense_Mutation_p.H356R	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	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
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	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.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483000													4	35					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28883201	28883201	+	Silent	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.chr16:28883201A>C	uc002dri.3	+	7	1849	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.P160P|SH2B1_uc002drj.3_Silent_p.P470P|SH2B1_uc002drk.3_Silent_p.P470P|SH2B1_uc002drl.3_Silent_p.P470P|SH2B1_uc010vdd.2_Silent_p.P134P|SH2B1_uc010vde.2_Silent_p.P470P|SH2B1_uc002drm.3_Silent_p.P470P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	470	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCTTCCCCCAGAGTTGCCCC	0.632000													5	145					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	uc002lbu.3	+	1	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	ATP5A1_uc002lbt.1_5'Flank|HAUS1_uc002lbv.3_5'UTR	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	46					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|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	uc002xqz.3	+	4	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	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					0	0	1	0	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	uc003ibi.3	-	5	1239	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_uc003ibj.3_Missense_Mutation_p.C127F|CAMK2D_uc003ibk.3_Missense_Mutation_p.C127F|CAMK2D_uc003ibo.4_Intron|CAMK2D_uc003ibm.2_Missense_Mutation_p.C127F|CAMK2D_uc003ibn.2_Missense_Mutation_p.C127F|CAMK2D_uc003ibl.2_Missense_Mutation_p.C127F	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	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					0	0	1	0	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	uc010uma.2	+	6	517	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	161										kidney(1)|lung(1)	2						CTGGCTGGCCGCCTGCAATAC	0.527000													49	11					0	0	1	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756737	54756737	+	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.chr2:54756737T>C	uc010yot.1	+	0	379	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		CCACTGAGTTTGCCATGAAGA	0.478000													4	33					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170401343	170401343	+	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.chr2:170401343G>A	uc002uev.4	-	8	2092	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Silent_p.I554I	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	568					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TAAAAGGATGGATCTGTATAA	0.303000													22	17					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	uc010xdp.2	+	8	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_uc002lfb.4_Missense_Mutation_p.D200V	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	355	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|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|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D355G(4)|p.?(2)|p.D355A(2)|p.D355N(1)|p.D355E(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	uc002wja.3	-	2	535	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_uc002wiz.4_Missense_Mutation_p.D179N|SIGLEC1_uc002wjc.3_Missense_Mutation_p.D90N	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	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	uc002ipg.3	-	3	602	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_uc010dbk.3_Missense_Mutation_p.F102C|SPOP_uc002ipb.3_Missense_Mutation_p.F102C|SPOP_uc002ipc.3_Missense_Mutation_p.F102C|SPOP_uc002ipd.3_Missense_Mutation_p.F102C|SPOP_uc002ipe.3_Missense_Mutation_p.F102C|SPOP_uc002ipf.3_Missense_Mutation_p.F102C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(4)		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	uc001euj.3	+	0	615	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	C1orf51_uc001euh.3_Missense_Mutation_p.R56W|C1orf51_uc001eui.3_Intron	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	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
GOLGA6L5	374650	broad.mit.edu	37	15	85055683	85055683	+	RNA	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.chr15:85055683C>T	uc002bkm.2	-	5		c.877G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CTCCTGTTCACGTAGCCTCTC	0.557000													3	8					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	uc003hyt.2	-	7	2119	c.930G>A	c.(928-930)atG>atA	p.M310I	LEF1_uc011cfj.1_Missense_Mutation_p.M167I|LEF1_uc011cfk.2_Missense_Mutation_p.M214I|LEF1_uc003hyu.2_Missense_Mutation_p.M282I|LEF1_uc003hyv.2_Missense_Mutation_p.M282I|LEF1_uc010imb.2_Non-coding_Transcript|LEF1_uc003hyw.1_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	310					T-helper 1 cell differentiation|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 DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|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	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor 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	uc001vox.1	-	15	2033	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T	NALCN_uc001voy.3_Missense_Mutation_p.K330T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	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	uc002fhg.1	-	3	577	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	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	uc010abx.3	-	5	1853	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_uc010abv.3_Missense_Mutation_p.Y120H|TRPC4_uc001uwt.3_Missense_Mutation_p.Y540H|TRPC4_uc001uws.3_Missense_Mutation_p.Y540H|TRPC4_uc010tey.2_Missense_Mutation_p.Y540H|TRPC4_uc010abw.3_Missense_Mutation_p.Y367H|TRPC4_uc010aby.3_Missense_Mutation_p.Y540H	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	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	uc003jlx.3	-	11	2413	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	DAB2_uc003jlw.3_Missense_Mutation_p.P607S	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	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 Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	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
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	uc004den.4	-	3	1516	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	BCOR_uc004dep.4_Silent_p.G408G|BCOR_uc004deo.4_Silent_p.G408G|BCOR_uc004dem.4_Silent_p.G408G|BCOR_uc004deq.4_Silent_p.G408G	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	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
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	uc001etd.3	+	0	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R	HIST2H2BE_uc001etc.3_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.	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
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	uc021uyi.1	+	1	165	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_uc002ptp.1_Missense_Mutation_p.V42L|KLK3_uc002pts.1_Missense_Mutation_p.V42L|KLK3_uc002ptr.1_Missense_Mutation_p.V42L|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	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
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	uc003kqn.3	+	14	2210	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_uc010jce.2_Nonsense_Mutation_p.Q670*|YTHDC2_uc010jcf.2_Nonsense_Mutation_p.Q370*	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	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
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	uc002fxe.3	-	32	5233	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q	ZZEF1_uc002fxh.3_Silent_p.Q37Q|ZZEF1_uc002fxi.3_Intron|ZZEF1_uc002fxj.1_Silent_p.Q336Q	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	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
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	uc010wfp.2	+	0	102	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	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	uc002emi.3	+	5	848	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_uc002emj.3_Silent_p.D253D|CCDC135_uc002emk.3_Silent_p.D188D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	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
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	uc010xdp.2	+	8	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_uc002lfb.4_Missense_Mutation_p.D196Y	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|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|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D351H(16)|p.V350_D351>DN(2)|p.?(2)|p.D351N(2)|p.V350D(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	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	uc001twr.2	-	8	1234	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_uc010sza.1_Missense_Mutation_p.S154T|WSB2_uc010szb.1_Missense_Mutation_p.S169T	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	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	uc003fpy.3	-	6	679	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ETV5_uc003fpz.3_Missense_Mutation_p.A163V	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	163					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K205Q(1)		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	uc021rom.1	+	0	129	c.129A>G	c.(127-129)cgA>cgG	p.R43R	EDDM3A_uc001vyc.3_Silent_p.R43R	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	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
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	uc022cbu.1	+	0	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N	TCEAL3_uc004ekq.3_Missense_Mutation_p.D26N|TCEAL3_uc004ekr.3_Missense_Mutation_p.D26N	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	26	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D25N(1)		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
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	uc002axd.3	+	3	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_uc002axe.3_Missense_Mutation_p.T55M|ISLR2_uc010bjg.3_Missense_Mutation_p.T55M|ISLR2_uc010bjf.3_Missense_Mutation_p.T55M|ISLR2_uc021sqe.1_Missense_Mutation_p.T55M	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	55					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.T55M(2)		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	uc022axs.1	-	6	1214	c.1027T>C	c.(1027-1029)Tac>Cac	p.Y343H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.Y257H|RUNX1T1_uc010mam.3_Missense_Mutation_p.Y257H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.Y247H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.Y284H|RUNX1T1_uc022axo.1_Missense_Mutation_p.Y284H|RUNX1T1_uc010mao.3_Missense_Mutation_p.Y257H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.Y295H|RUNX1T1_uc022axp.1_Missense_Mutation_p.Y284H|RUNX1T1_uc022axq.1_Missense_Mutation_p.Y284H|RUNX1T1_uc022axr.1_Missense_Mutation_p.Y284H|RUNX1T1_uc022axt.1_Missense_Mutation_p.Y284H|RUNX1T1_uc022axu.1_Missense_Mutation_p.Y264H|RUNX1T1_uc022axv.1_Missense_Mutation_p.Y284H|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Missense_Mutation_p.Y247H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	284	Important for oligomerization.				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	uc010xxd.2	+	3	673	c.467C>G	c.(466-468)cCc>cGc	p.P156R		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	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	uc010cvv.3	+	11	3782	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_uc010wef.1_Missense_Mutation_p.S1065P|CDK12_uc002hrw.4_Missense_Mutation_p.S1066P	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1066					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			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	uc003qkt.3	+	36	5444	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	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
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95646	95646	+	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.chrGL000209.1:95646G>T	uc002quk.1	+	7	1087	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	344							receptor activity										CTGCCCATAAGCACCACAGTC	0.522000													51	20					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	uc003ulg.3	+	20	5477	c.5252G>T	c.(5251-5253)cGc>cTc	p.R1751L	AKAP9_uc003ulf.3_Missense_Mutation_p.R1751L|AKAP9_uc003uli.3_Missense_Mutation_p.R1376L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1763					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	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					0	0	1	0	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	uc002msc.1	+	0	200	c.36C>T	c.(34-36)taC>taT	p.Y12Y	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	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	uc004cfv.4	+	2	243	c.169_splice	c.e2+2	p.D57_splice	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	57					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	uc002pcj.4	-	1	353	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C		NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	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					0	0	1	0	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	uc001qsj.3	+	8	1417	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_uc001qsk.3_Missense_Mutation_p.N233S|C1S_uc001qsl.3_Missense_Mutation_p.N233S|C1S_uc009zfr.3_Missense_Mutation_p.N66S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	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
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	C	T	rs71661951		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.chr1:143744418C>T	uc001ejp.3	-	0		c.170G>A			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CAAGTGGTTTCGGAAGTGATC	0.567000													3	20					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	uc001tng.3	-	1	606	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	TMEM119_uc021rdl.1_Missense_Mutation_p.R148Q	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	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	uc002plr.1	+	12	1134	c.1121_splice	c.e12+1	p.R374_splice	RUVBL2_uc002pls.1_Splice_Site|RUVBL2_uc010emn.1_Splice_Site_p.R329_splice	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	374					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|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					0	0	1	0	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	uc003lfm.2	+	8	1253	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SLC4A9_uc003lfj.2_Silent_p.D382D|SLC4A9_uc011czg.1_Silent_p.D382D|SLC4A9_uc003lfl.2_Silent_p.D382D|SLC4A9_uc003lfk.2_Silent_p.D371D	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	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	uc010kio.3	+	4	990	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ESR1_uc003qom.4_Nonsense_Mutation_p.R256*|ESR1_uc010kin.3_Nonsense_Mutation_p.R256*|ESR1_uc010kip.3_Nonsense_Mutation_p.R255*|ESR1_uc003qon.4_Nonsense_Mutation_p.R256*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.R256*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.R37*|ESR1_uc010kit.1_5'UTR|ESR1_uc011eey.2_5'UTR	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	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
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	uc021yzh.1	+	78	11967	c.11858T>C	c.(11857-11859)aTt>aCt	p.I3953T	DNAH8_uc003ooe.2_Missense_Mutation_p.I3736T|DNAH8_uc003oog.1_Missense_Mutation_p.I185T|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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
BC080605	0	broad.mit.edu	37	9	68413599	68413599	+	RNA	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.chr9:68413599C>A	uc004aex.3	+	0		c.154C>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GTGCCTTTTGCTGAAACTCTG	0.602000													3	9					0	0	1	0	0
MLL3	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	uc003wla.3	-	14	2773	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	MLL3_uc003wkz.3_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	852					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGCTCACTGTATTATGGGTA	0.453000			N		medulloblastoma								53	87					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	uc002mfu.1	+	4	610	c.513C>G	c.(511-513)gaC>gaG	p.D171E	VAV1_uc010xjh.1_Missense_Mutation_p.D171E|VAV1_uc010dva.1_Missense_Mutation_p.D171E|VAV1_uc002mfv.1_Missense_Mutation_p.D116E	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	171					T cell costimulation|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	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D171N(1)|p.G170G(1)		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
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	uc003ncg.4	-	33	4310	c.4150A>G	c.(4150-4152)Agt>Ggt	p.S1384G	KIF13A_uc003ncf.3_Missense_Mutation_p.S1371G|KIF13A_uc003nch.4_Missense_Mutation_p.S1384G|KIF13A_uc003nci.4_Missense_Mutation_p.S1371G|KIF13A_uc003nce.2_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1384					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome 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	uc003cqa.2	-	23	2800	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ALS2CL_uc003cpx.2_Silent_p.S216S|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.S384S|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.S869S	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	869	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding	p.S869L(1)		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	uc003qhu.3	+	17	3160	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	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	uc002bed.1	-	4	1032	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.T125I	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	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	uc021onw.1	-	64	7782_7783	c.7529_7530delGT	c.(7528-7530)tgtfs	p.C2510fs	USP24_uc001cyg.4_Frame_Shift_Del_p.C2344fs	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	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	---	---	---	---					
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	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	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	uc003jqq.3	-	6	971	c.658_splice	c.e6+1	p.V220_splice	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Splice_Site|IL6ST_uc003jqr.3_Splice_Site_p.V220_splice|IL6ST_uc010iwb.3_Splice_Site_p.V220_splice|IL6ST_uc010iwf.1_Splice_Site	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	220					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|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	uc003msz.4	+	4	703_704	c.577_578insAA	c.(577-579)caafs	p.Q193fs	IRF4_uc010jne.2_Frame_Shift_Ins_p.Q193fs|IRF4_uc003mtb.4_Frame_Shift_Ins_p.Q192fs|IRF4_uc021ykl.1_Frame_Shift_Ins_p.Q39fs|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Frame_Shift_Ins_p.Q23fs	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	193					T cell activation|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|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	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				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	uc003zhk.1	+	5	1250_1251	c.853_854delTG	c.(853-855)tgtfs	p.C285fs	VLDLR_uc003zhl.1_Frame_Shift_Del_p.C285fs|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	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	uc010agk.2	+	31	5352	c.4730delC	c.(4729-4731)tccfs	p.S1577fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.S1555fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1555	Pro-rich.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament 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	---	---	---	---					
