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
PAPPA2	60676	broad.mit.edu	37	1	176525851	176525851	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:176525851G>A	uc001gkz.3	+	1	1557	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PAPPA2_uc001gky.1_Silent_p.G131G|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	131					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGGGTAGGGGATAGTCCTA	0.537000													11	120					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849239	52849239	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:52849239G>A	uc001ctt.3	-	12	2097	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	ORC1_uc010oni.2_Silent_p.L617L|ORC1_uc001ctu.3_Silent_p.L622L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	622	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACAGAAGGTCGAGCTGCCAGG	0.493000													38	87					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17069551	17069551	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:17069551A>T	uc002gqy.2	+	0	1578	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	MPRIP_uc002gqu.2_Intron|MPRIP_uc002gqv.2_Intron|MPRIP_uc002gqw.2_Intron|MPRIP_uc002gqx.2_Missense_Mutation_p.Q391L			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	906	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTCCCTGCAGCAGTGCTCC	0.627000													20	88					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572249	53572249	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:53572249T>C	uc010eqk.3	-	6	1954	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	ZNF160_uc002qaq.4_Missense_Mutation_p.E513G|ZNF160_uc002qar.4_Missense_Mutation_p.E513G	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	513					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCCACACTCATTACACTT	0.403000													16	29					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118895661	118895661	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:118895661T>C	uc010ryr.1	-	11	1753	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V	SLC37A4_uc009zan.2_Non-coding_Transcript|SLC37A4_uc010rys.1_Missense_Mutation_p.I416V|SLC37A4_uc010ryt.1_Missense_Mutation_p.I343V|SLC37A4_uc001pus.2_Missense_Mutation_p.I416V	NM_001164278	NP_001157750	O43826	G6PT1_HUMAN	Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA.	417					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTGGTGCGGATGTTTCGTAGG	0.597000													32	62					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507086	195507086	+	Missense_Mutation	SNP	C	C	G	rs74208457		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:195507086C>G	uc021xjp.1	-	1	11521	c.11365G>C	c.(11365-11367)Gac>Cac	p.D3789H	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	572					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTCACCTGTGGAT	0.597000													4	128					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99764611	99764611	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:99764611T>C	uc001dse.3	+	3	717	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R	LPPR4_uc010oue.2_Missense_Mutation_p.C187R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	187							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATTTGGATTATGCTCTACAGC	0.363000													31	51					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94938687	94938687	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr13:94938687A>C	uc001vlt.3	+	4	1594	c.962A>C	c.(961-963)gAa>gCa	p.E321A	GPC6_uc010tig.1_Missense_Mutation_p.E321A	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	321						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AAGATTTCTGAAGCCATTATG	0.423000													28	40					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795754	113795754	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:113795754A>G	uc003eaz.3	+	5	833	c.747A>G	c.(745-747)tcA>tcG	p.S249S	QTRTD1_uc003eay.3_Silent_p.S237S|QTRTD1_uc011biq.2_Silent_p.S114S|QTRTD1_uc011bir.2_Silent_p.S131S|QTRTD1_uc003eba.3_Silent_p.S114S	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	237					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GCTTGCTGTCATCAGTCACTG	0.577000													4	179					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:1093292C>T	uc001lsx.1	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1744	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	atcaccaccaccactacggtg	0.637000													5	52					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591257	14591257	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:14591257A>T	uc002myt.3	-	5	785	c.515T>A	c.(514-516)aTc>aAc	p.I172N	GIPC1_uc002myv.3_Missense_Mutation_p.I75N|GIPC1_uc002myu.3_Missense_Mutation_p.I172N|GIPC1_uc002myw.3_Missense_Mutation_p.I75N|GIPC1_uc002myx.3_Missense_Mutation_p.I172N|GIPC1_uc002myy.3_Missense_Mutation_p.I75N	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	172	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCACGCTGATGAGGTGGAT	0.677000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	167					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2201715	2201715	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:2201715A>G	uc002cou.3	+	3	502	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	RAB26_uc010bsf.3_Missense_Mutation_p.Q57R	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	Homo sapiens RAB26, member RAS oncogene family (RAB26), mRNA.	123					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						ACAGCTGGTCAGGAGCGGTTC	0.642000													74	215					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197513	44197513	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:44197513C>A	uc003oww.1	+	4	728	c.536C>A	c.(535-537)tCc>tAc	p.S179Y	SLC29A1_uc021yzw.1_Missense_Mutation_p.S100Y|SLC29A1_uc011dvp.1_Missense_Mutation_p.S119Y|SLC29A1_uc003owu.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owv.1_Missense_Mutation_p.S100Y|SLC29A1_uc011dvq.1_Missense_Mutation_p.S142Y|SLC29A1_uc003owx.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owy.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owz.1_Missense_Mutation_p.S100Y|SLC29A1_uc021yzx.1_Missense_Mutation_p.S100Y	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	100					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TACCTCAACTCCTTCCTGCAT	0.597000													25	45					3.73988e-18	4.19855e-18	1	1	0
CASP3	836	broad.mit.edu	37	4	185552222	185552222	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:185552222G>T	uc003iwh.3	-	6	836	c.573C>A	c.(571-573)gcC>gcA	p.A191A	CASP3_uc003iwg.3_Intron|CASP3_uc003iwi.3_Silent_p.A191A	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	191					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAAGAAGTCGGCCTCCACTG	0.443000													3	59					1.024e-07	1.088e-07	1	1	0
FAM184B	27146	broad.mit.edu	37	4	17710845	17710845	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:17710845G>T	uc003gpm.4	-	1	777	c.564C>A	c.(562-564)ggC>ggA	p.G188G		NM_015688	NP_056503	Q9ULE4	F184B_HUMAN	Homo sapiens family with sequence similarity 184, member B (FAM184B), mRNA.	188										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CCGGGCCCTGGCCTGGCTCCG	0.677000													10	58					2.80697e-09	3.06449e-09	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055466	40055466	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:40055466A>G	uc003ayc.3	+	12	2359	c.2359A>G	c.(2359-2361)Aag>Gag	p.K787E	CACNA1I_uc003ayd.3_Missense_Mutation_p.K752E|CACNA1I_uc003aye.3_Missense_Mutation_p.K702E|CACNA1I_uc003ayf.3_Missense_Mutation_p.K667E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	787					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.D787E(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTTGGCTGCAAGTTCAGCCT	0.552000													47	94					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33415410	33415410	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:33415410C>T	uc003cfp.3	+	8	725	c.654C>T	c.(652-654)tgC>tgT	p.C218C	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Silent_p.C134C|FBXL2_uc021wuy.1_Silent_p.C150C|FBXL2_uc011axo.2_Silent_p.C113C|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	218					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCAGTCCTGCTCAGTAAGTA	0.498000													52	61					0	0	1	0	0
C1orf167	284498	broad.mit.edu	37	1	11838848	11838848	+	Missense_Mutation	SNP	G	G	T	rs6697244	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:11838848G>T	uc001asz.3	+	3	661	c.374G>T	c.(373-375)aGc>aTc	p.S125I	C1orf167_uc001ata.3_5'Flank					RecName: Full=Uncharacterized protein C1orf167;											central_nervous_system(1)	1						CTGAGCAGCAGCACACTCCAA	0.637000													6	201					0.00116845	0.00118842	1	1	0
NSD1	64324	broad.mit.edu	37	5	176562915	176562915	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:176562915T>G	uc003mfr.4	+	1	949	c.811T>G	c.(811-813)Tta>Gta	p.L271V	NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.L271V|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.L271V|NSD1_uc003mfq.3_Missense_Mutation_p.L271V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	271					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGAGCAATTAAACTCAAT	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	43					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74409353	74409353	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:74409353A>T	uc001xpd.2	-	3	1379	c.991T>A	c.(991-993)Tcc>Acc	p.S331T		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGATAGGGGAAGAGGCCATC	0.532000													14	45					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023126	17023126	+	Missense_Mutation	SNP	C	C	G	rs2610633	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:17023126C>G	uc001azn.1	-	9	1738	c.1624G>C	c.(1624-1626)Gct>Cct	p.A542P						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		AACCCCGCAGCTGGCGGTGTG	0.692000													3	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048182	9048182	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:9048182C>T	uc002mkp.3	-	4	33653	c.33449G>A	c.(33448-33450)gGa>gAa	p.G11150E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11152	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACCATTCCTGGTACCTC	0.468000													28	81					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121412648	121412648	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:121412648T>C	uc003ksu.3	-	1	1055	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	LOX_uc010jcp.3_5'Flank|LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_Intron|LOX_uc011cwk.2_5'UTR	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	227	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTCTGCACGTACGTGGACGC	0.632000											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136183765	136183765	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:136183765T>C	uc003era.1	-	12	1563	c.1271A>G	c.(1270-1272)cAt>cGt	p.H424R	STAG1_uc003erb.1_Missense_Mutation_p.H424R|STAG1_uc003erc.1_Missense_Mutation_p.H198R|STAG1_uc010hua.1_Missense_Mutation_p.H287R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	424					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGGGCGATGTGCCGAGTA	0.393000													3	41					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22020564	22020564	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr18:22020564A>G	uc002kvh.4	+	5	584	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	IMPACT_uc002kvg.4_Missense_Mutation_p.I140V	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	158										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGATTTTGATATCAGTGAAAC	0.343000													3	70					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134505712	134505712	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:134505712C>T	uc022bos.1	-	6	814	c.655_splice	c.e6-1	p.E219_splice	RAPGEF1_uc022bot.1_Splice_Site_p.E201_splice|RAPGEF1_uc022bou.1_Splice_Site_p.E206_splice|RAPGEF1_uc022bov.1_Splice_Site_p.E206_splice	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	201					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGACCAGCTCCTACCCCCACA	0.592000													8	69					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220406754	220406754	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:220406754G>A	uc002vmc.4	-	1	699	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CHPF_uc010zlh.2_5'UTR|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	158						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTGGGGCCCGGCGGCCCCGT	0.721000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	70					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496371	52496371	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:52496371G>A	uc002pyf.2	-	6	2308	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V	AK128361_uc021uys.1_Missense_Mutation_p.H27Y|ZNF615_uc002pye.2_Missense_Mutation_p.A653V|ZNF615_uc002pyh.2_Missense_Mutation_p.A664V|ZNF615_uc010epi.2_Missense_Mutation_p.A660V|ZNF615_uc002pyg.2_Missense_Mutation_p.A545V|ZNF615_uc010ydg.2_Missense_Mutation_p.A658V	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCAGTACATGCAAAGGAAGT	0.408000													31	77					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172114	155172114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:155172114G>A	uc001fix.3	-	8	1141	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Nonsense_Mutation_p.R226*|THBS3_uc009wqi.3_Nonsense_Mutation_p.R337*|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	346	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTACCCTCGAGGACAGGCC	0.602000													34	88					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64517951	64517951	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:64517951T>A	uc001oax.4	-	16	2891	c.2074A>T	c.(2074-2076)Acc>Tcc	p.T692S	PYGM_uc001oay.4_Missense_Mutation_p.T604S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	692					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCGTCCATGGTGCCAATGGTC	0.567000													30	55					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978564	58978564	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:58978564C>T	uc001nnu.4	-	0	1931	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	592						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGTGGGAGCCTGGCAGGGGG	0.582000													29	54					0	0	1	0	0
CHCHD8	51287	broad.mit.edu	37	11	73584202	73584202	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:73584202C>A	uc021qne.1	-	0	222	c.222G>T	c.(220-222)gaG>gaT	p.E74D	CHCHD8_uc001ouj.3_Missense_Mutation_p.E74D	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8 (CHCHD8), mRNA.	74										lung(2)	2	Breast(11;7.42e-05)					TCTGCAGCTCCTCTTGCCGCC	0.612000													8	50					1.12685e-05	1.16605e-05	1	1	0
TTC30B	150737	broad.mit.edu	37	2	178416779	178416779	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:178416779C>T	uc002uln.3	-	0	746	c.713G>A	c.(712-714)aGt>aAt	p.S238N	TTC30B_uc010zfc.1_Missense_Mutation_p.S10N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	238					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGCCAACACTGCGAACATC	0.512000													38	137					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9440354	9440354	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:9440354G>A	uc021wam.1	+	30	3124	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1049K|PLCB4_uc021wal.1_Missense_Mutation_p.E1037K|PLCB4_uc002wnh.3_Missense_Mutation_p.E884K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1037					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGGAGCAAGAAATCCGAGA	0.502000													19	42					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550436	2550436	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:2550436G>T	uc002cql.3	+	6	1610	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	TBC1D24_uc002cqk.3_Silent_p.L484L|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	490	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						ACTTCAACCTGCCCTCCAAGA	0.692000													47	176					5.39261e-20	6.11163e-20	1	1	0
PARP14	54625	broad.mit.edu	37	3	122437696	122437696	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:122437696A>G	uc003efq.4	+	13	4757	c.4698A>G	c.(4696-4698)acA>acG	p.T1566T	PARP14_uc021xdc.1_Silent_p.T1430T|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.T1283T|PARP14_uc003efs.1_Silent_p.T1283T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1566	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAAAAAACAGTTGATGTCA	0.373000													32	90					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216232592	216232592	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:216232592A>G	uc002vfa.3	-	41	7278	c.7012T>C	c.(7012-7014)Tca>Cca	p.S2338P	FN1_uc002vfc.3_Missense_Mutation_p.S2101P|FN1_uc002vfe.3_Missense_Mutation_p.S2216P|FN1_uc002vff.3_Missense_Mutation_p.S2191P|FN1_uc002vfg.3_Missense_Mutation_p.S2157P|FN1_uc002vfh.3_Missense_Mutation_p.S2037P|FN1_uc002vfi.3_Missense_Mutation_p.S2307P|FN1_uc002vfj.3_Missense_Mutation_p.S2128P|FN1_uc002vfb.3_Missense_Mutation_p.S2126P|FN1_uc002vez.3_Missense_Mutation_p.S501P|FN1_uc010zjp.2_Missense_Mutation_p.S875P|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2247					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTAGATGAATCACATCTG	0.458000													36	84					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56649978	56649978	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:56649978A>C	uc003dhz.3	+	12	1827	c.1740A>C	c.(1738-1740)gcA>gcC	p.A580A	CCDC66_uc003dhy.3_Silent_p.A216A|CCDC66_uc003dhu.3_Silent_p.A546A|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'UTR	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	580										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATATAATGCATCTAACATTT	0.294000													7	32					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50970983	50970983	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:50970983C>T	uc002psh.3	-	3	1001	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM71E1_uc002psg.3_Missense_Mutation_p.A199T|FAM71E1_uc002psi.3_Non-coding_Transcript	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	215										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TTGAGTGGGGCCCGCAGCTGC	0.602000													32	77					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53584383	53584383	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:53584383A>G	uc004dsp.3	-	59	8568	c.8166T>C	c.(8164-8166)acT>acC	p.T2722T	HUWE1_uc004dsn.3_Silent_p.T1546T|MIR98_uc004dsr.2_5'Flank|MIRLET7F2_uc004dss.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2722					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTTAGATGCAGTACACTGCA	0.428000													22	7					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5126752	5126752	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:5126752T>C	uc010mhm.3	+	23	3473	c.3360T>C	c.(3358-3360)gcT>gcC	p.A1120A	JAK2_uc003ziw.3_Silent_p.A1120A	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	1120	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGGATCTAGCTCTTCGAGTGG	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				34	12					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089159	161089159	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:161089159G>A	uc001fxv.2	+	2	439	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Missense_Mutation_p.E112K|NIT1_uc010pka.2_Missense_Mutation_p.E97K|NIT1_uc001fxy.2_Missense_Mutation_p.E76K	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	112	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACTTTTGGAAGAATACACCCA	0.532000											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	34					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37821723	37821723	+	Splice_Site	SNP	G	G	A	rs113187448		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:37821723G>A	uc002hsh.3	+	1	124	c.110_splice	c.e1+1	p.G37_splice	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	Homo sapiens titin-cap (telethonin) (TCAP), mRNA.	37					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGAGGAGGGGTGAGTGTGGG	0.627000													28	84					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101559080	101559080	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:101559080G>A	uc001kqf.2	+	7	1123	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	328	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L328P(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATTCCTACTGAAGCTAGTGA	0.463000													8	27					0	0	1	0	0
SRXN1	140809	broad.mit.edu	37	20	633661	633661	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:633661A>G	uc002wea.3	-	0	230	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	SRXN1_uc002web.3_Intron	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	57					response to oxidative stress	cytosol	ATP binding|DNA binding|antioxidant activity|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCGGGGTCCAACACGGACGGC	0.731000													3	67					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92083893	92083893	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:92083893A>G	uc003ulx.1	+	3	792	c.513A>G	c.(511-513)agA>agG	p.R171R		NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA.	171							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAAATCAGAGGTTTTATCC	0.458000													48	53					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978229	38978229	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:38978229G>A	uc002hvi.3	-	0	635	c.609C>T	c.(607-609)atC>atT	p.I203I	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	203	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAAGGTCATCGATGGTTTTGT	0.393000													92	56					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7811178	7811178	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:7811178C>T	uc001ijt.3	-	8	892	c.798_splice	c.e8+1	p.E266_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E160_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	266					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATAAACTGTACCTCCATGATT	0.343000													7	13					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46677589	46677589	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46677589A>G	uc003bhi.3	+	6	785	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TTC38_uc011aqx.2_Missense_Mutation_p.M179V	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	237							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GTTGGAATTCATGCAGCACTC	0.512000													22	45					0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	72016037	72016037	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:72016037A>G	uc010vmm.2	-	6	1064	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AAAGGGGCAGACAGTTGGAGG	0.473000													28	96					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	985477	985477	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:985477T>C	uc001lst.2	+	7	1073	c.860T>C	c.(859-861)aTc>aCc	p.I287T	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.I286T	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	286					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGAGACCATCCTGAACAAA	0.592000													42	82					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53288491	53288491	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:53288491A>G	uc002ehb.3	+	16	4167	c.4003A>G	c.(4003-4005)Agt>Ggt	p.S1335G	CHD9_uc002egy.3_Missense_Mutation_p.S1335G|CHD9_uc002ehc.3_Missense_Mutation_p.S1335G|CHD9_uc002ehf.3_Missense_Mutation_p.S449G|CHD9_uc002ehg.2_Missense_Mutation_p.S449G|CHD9_uc002ehd.2_Missense_Mutation_p.S861G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1335	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGAGCATGAGTGGAAGAGA	0.378000													29	81					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321821	90321821	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:90321821T>G	uc004apc.3	+	25	3973	c.3835T>G	c.(3835-3837)Ttc>Gtc	p.F1279V	DAPK1_uc004apd.3_Missense_Mutation_p.F1279V|DAPK1_uc011ltg.2_Missense_Mutation_p.F1213V|DAPK1_uc011lth.2_Missense_Mutation_p.F1016V|DAPK1_uc004apg.2_Missense_Mutation_p.F256V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1279					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAAGGAAAGCTTCAGCAGCAT	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of				68	24					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120428098	120428098	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:120428098C>T	uc001txl.1	+	0	451	c.426C>T	c.(424-426)ctC>ctT	p.L142L	CCDC64_uc001txk.2_Silent_p.L142L|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	142					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACAAGCTCGAGGTGAGGA	0.657000													50	155					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568199	5568199	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:5568199G>C	uc003sot.4	-	3	599	c.515C>G	c.(514-516)cCc>cGc	p.P172R	ACTB_uc003sor.4_Missense_Mutation_p.P50R|ACTB_uc003soq.4_Missense_Mutation_p.P50R	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	172					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GATGGCATGGGGGAGGGCATA	0.637000													8	271					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163046173	163046173	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:163046173A>G	uc002ucd.3	-	17	1750	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	FAP_uc010fpc.3_Silent_p.D63D|FAP_uc010zct.2_Silent_p.D489D	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	514					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACTAATTTCATCTACTTCAA	0.284000													37	23					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17674521	17674521	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:17674521A>T	uc001baj.2	+	9	1161	c.1133A>T	c.(1132-1134)gAg>gTg	p.E378V	PADI4_uc009vpc.2_Missense_Mutation_p.E378V	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	378					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.K377K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCCTGAAGGAGTTTCCCATC	0.567000													19	47					0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47698325	47698325	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:47698325G>A	uc010kyp.1	+	1	140	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	35										endometrium(1)|lung(2)	3						taagcaacttgcccaggccac	0.423000													5	76					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88474150	88474150	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:88474150C>T	uc001tar.3	-	37	5379	c.5035G>A	c.(5035-5037)Gaa>Aaa	p.E1679K	CEP290_uc001taq.3_Missense_Mutation_p.E739K	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1679					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTCACTTCATCTTCATGG	0.348000													18	25					0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53900627	53900627	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:53900627C>T	uc001sdw.1	-	2	439	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_003717	NP_003708	O15130	NPFF_HUMAN	Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA.	92					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCTCCAGCCCGGGGACTCAG	0.552000													9	48					0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95906070	95906070	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr14:95906070C>T	uc001yei.4	-	11	2140	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	C14orf49_uc010avi.3_Missense_Mutation_p.A709T	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	709					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CAGCCCTGCGCTTCCACCAGG	0.637000													7	103					0	0	1	0	0
AK074396	0	broad.mit.edu	37	9	133306833	133306833	+	Silent	SNP	C	C	T	rs34741230	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:133306833C>T	uc004bzl.3	+	1	403	c.150C>T	c.(148-150)ccC>ccT	p.P50P						Homo sapiens cDNA FLJ23816 fis, clone HSI02685.																		GCCTGTGCCCCGCCGGCTACC	0.701000													4	102					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749356	234749356	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:234749356G>C	uc002vvg.3	-	7	2136	c.2070C>G	c.(2068-2070)ggC>ggG	p.G690G	HJURP_uc010znd.2_Silent_p.G629G|HJURP_uc010zne.2_Silent_p.G598G	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	690					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCGTCCGGAGCCCTGGGGTT	0.592000													51	41					0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5086868	5086868	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:5086868C>T	uc002wlk.3	-	3	436	c.377G>A	c.(376-378)gGc>gAc	p.G126D	TMEM230_uc010gbi.3_Missense_Mutation_p.G63D|TMEM230_uc002wll.3_Missense_Mutation_p.G63D|TMEM230_uc002wlm.3_Missense_Mutation_p.G63D|TMEM230_uc002wln.3_Missense_Mutation_p.G63D	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	63						integral to membrane											CAGGAGGGAGCCTATAATAAT	0.453000													5	62					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145638017	145638017	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:145638017A>G	uc003lnz.4	+	10	1766	c.1600A>G	c.(1600-1602)Aac>Gac	p.N534D	RBM27_uc003lny.2_Missense_Mutation_p.N479D	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	534					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGCTGCTAACATTGTGAT	0.343000													3	49					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39607523	39607523	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:39607523C>T	uc003oot.2	-	3	357	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.G88S|KIF6_uc010jxb.1_Missense_Mutation_p.G88S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	88	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCATTGTAACCTGCCAGGACA	0.408000													8	57					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370209	131370209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:131370209G>T	uc004bvl.4	+	32	4367	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	SPTAN1_uc004bvm.4_Nonsense_Mutation_p.G1409*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.G1389*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1409					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.G1409R(2)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTTGGCTCACGGACACTATGC	0.547000													4	108					0.014758	0.0148831	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640158	99640158	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:99640158G>A	uc001tge.2	-	12	2658	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	ANKS1B_uc001tgf.2_Silent_p.S327S|ANKS1B_uc001tgk.3_Silent_p.S44S|ANKS1B_uc009ztt.1_Silent_p.S713S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	747						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTCATTGGAAGGATAGG	0.413000													86	92					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1093744	1093744	+	Silent	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:1093744C>A	uc003jbu.3	-	2	312	c.246G>T	c.(244-246)gtG>gtT	p.V82V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	82					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCGAGGACACCATGGGGT	0.682000													36	88					6.48837e-15	7.14922e-15	1	1	0
TBC1D3F	84218	broad.mit.edu	37	17	36353796	36353796	+	Splice_Site	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:36353796A>T	uc002hpr.2	-	1	1	c.-360_splice	c.e1-1		TBC1D3F_uc010cvk.2_Intron|TBC1D3F_uc010wdn.1_Intron	NM_001123391	NP_001116863	A6NER0	TBC3F_HUMAN	Homo sapiens TBC1 domain family, member 3 (TBC1D3), mRNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						TACTTAAAGAAATTGAAATGA	0.323000													37	632					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78811724	78811724	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr17:78811724A>C	uc002jyt.1	+	9	1944	c.1139A>C	c.(1138-1140)cAa>cCa	p.Q380P	RPTOR_uc010wuf.1_Missense_Mutation_p.Q195P|RPTOR_uc010wug.1_Missense_Mutation_p.Q380P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	380					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCCGCAGGCAAGCCTGGGAC	0.612000													26	105					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227601	74227601	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:74227601C>T	uc003phi.3	-	6	2313	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	EEF1A1_uc003phj.3_Missense_Mutation_p.V441M|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.S85N|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	441						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTTGTCCACTGCTTTGATG	0.443000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	50					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:247053281C>T	uc001ibv.2	-	16	2255	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	711	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E711Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338000													8	20					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654194	46654194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:46654194G>A	uc003bhh.3	-	0	5026	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1676					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGACGATCTGGTCATGTATC	0.418000													23	33					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19967613	19967613	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:19967613C>A	uc002zqz.3	-	5	1319	c.1049G>T	c.(1048-1050)cGc>cTc	p.R350L	ARVCF_uc002zqy.3_5'Flank	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	350					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGGCTCCTTGCGGGCGCTATC	0.726000													13	18					4.3838e-07	4.57607e-07	1	1	0
LRCH4	4034	broad.mit.edu	37	7	100176068	100176068	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr7:100176068C>A	uc003uvj.3	-	5	855	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	268					nervous system development	PML body	protein binding	p.S267S(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCAGGGCCGACCCACGC	0.632000													26	313					1.56442e-22	1.79006e-22	1	1	0
HPS1	3257	broad.mit.edu	37	10	100177417	100177417	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:100177417G>A	uc021pwv.1	-	19	2253	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	669					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACAGGTGCAGGGCCAGCAGCT	0.662000									Hermansky-Pudlak syndrome				50	127					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089251	113089251	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:113089251G>C	uc002thq.1	+	11	3150	c.2756G>C	c.(2755-2757)aGt>aCt	p.S919T		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	919							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AATACAAAAAGTGATCTTCAT	0.388000													24	41					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084873	58084873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:58084873A>T	uc002qpf.3	-	3	570	c.399T>A	c.(397-399)tgT>tgA	p.C133*		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAAAGACCGCACATGCCCCAG	0.507000													50	77					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10062249	10062249	+	Silent	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chrX:10062249A>T	uc004csx.4	+	6	783	c.585A>T	c.(583-585)gtA>gtT	p.V195V	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	195										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCACCATGTAGGCGTGCCTG	0.577000													6	56					0	0	1	0	0
AK074396	0	broad.mit.edu	37	9	133306791	133306791	+	Silent	SNP	C	C	T	rs35509713	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr9:133306791C>T	uc004bzl.3	+	1	361	c.108C>T	c.(106-108)caC>caT	p.H36H						Homo sapiens cDNA FLJ23816 fis, clone HSI02685.																		TGTGTCAGCACGCCTGCCGCA	0.697000													4	110					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50847398	50847398	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:50847398T>C	uc001rwp.2	+	8	1162	c.960T>C	c.(958-960)taT>taC	p.Y320Y	LARP4_uc001rwq.2_Intron|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Silent_p.Y319Y|LARP4_uc001rwr.2_Silent_p.Y320Y|LARP4_uc021qxv.1_Silent_p.Y250Y|LARP4_uc009zlr.1_Silent_p.Y139Y|LARP4_uc001rwm.3_Silent_p.Y320Y|LARP4_uc001rwn.3_Silent_p.Y250Y	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	320							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTCGGTCTATAGTATTGTGC	0.373000													33	88					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25224425	25224425	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:25224425A>G	uc003xeg.3	+	30	3300	c.3163A>G	c.(3163-3165)Acc>Gcc	p.T1055A	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T769A|DOCK5_uc003xei.3_Missense_Mutation_p.T625A|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1055						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCATTTCTCACCCATGAGTC	0.383000													3	35					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184129218	184129218	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:184129218C>T	uc010irx.3	+	2	536	c.354C>T	c.(352-354)taC>taT	p.Y118Y	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	118										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGGAACTGTACCATGTGAAGG	0.493000													4	110					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834831	24834831	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:24834831G>A	uc001iru.4	+	20	5813	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T	KIAA1217_uc001irs.3_Missense_Mutation_p.A1125T|KIAA1217_uc001irt.4_Missense_Mutation_p.A1170T|KIAA1217_uc010qcy.2_Missense_Mutation_p.A1235T|KIAA1217_uc010qcz.2_Missense_Mutation_p.A1210T|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1804	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAGATTCCAGCCCTTTCTCC	0.493000													4	121					0	0	1	0	0
C5orf65	389333	broad.mit.edu	37	5	138727939	138727939	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr5:138727939A>G	uc011czc.1	-	0	2947	c.2832T>C	c.(2830-2832)taT>taC	p.Y944Y	MZB1_uc003lei.3_5'Flank|MZB1_uc010jfd.3_5'Flank|MZB1_uc010jfe.3_5'Flank|MZB1_uc003lej.3_5'Flank	NM_001161546	NP_001155018	B4E007	B4E007_HUMAN	Homo sapiens chromosome 5 open reading frame 65 (C5orf65), mRNA.	383										breast(1)|skin(1)	2						GTATAGGCCCATAGGCGGGCG	0.736000													24	71					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96005839	96005839	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:96005839A>G	uc001kjk.3	+	7	3191	c.2557A>G	c.(2557-2559)Atc>Gtc	p.I853V	PLCE1_uc010qnx.2_Missense_Mutation_p.I853V|PLCE1_uc001kjm.3_Missense_Mutation_p.I545V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	853					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGTGCTGTCCATCCAAGCCGA	0.572000													18	155					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496372	52496372	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:52496372C>T	uc002pyf.2	-	6	2307	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	AK128361_uc021uys.1_Silent_p.L26L|ZNF615_uc002pye.2_Missense_Mutation_p.A653T|ZNF615_uc002pyh.2_Missense_Mutation_p.A664T|ZNF615_uc010epi.2_Missense_Mutation_p.A660T|ZNF615_uc002pyg.2_Missense_Mutation_p.A545T|ZNF615_uc010ydg.2_Missense_Mutation_p.A658T	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCAGTACATGCAAAGGAAGTC	0.403000													32	78					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226047	183226047	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:183226047C>T	uc003flr.3	-	2	767	c.709G>A	c.(709-711)Gag>Aag	p.E237K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.E235K	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	237	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATCACGGTCTCAAACACCTGa	0.547000													55	169					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930403	68930403	+	Splice_Site	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr4:68930403C>A	uc003hdt.1	-	8	1064	c.1015_splice	c.e8+1	p.G339_splice	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	339	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AACTGCTCACCATCATCTACA	0.363000													13	18					4.3838e-07	4.57607e-07	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6637492	6637492	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:6637492T>C	uc001qoo.2	+	24	3343	c.3297T>C	c.(3295-3297)gcT>gcC	p.A1099A	NCAPD2_uc009zen.1_Silent_p.A971A|NCAPD2_uc010sfd.1_Silent_p.A1054A	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1099					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATCTGTATGCTCGGTAAGAGA	0.577000													25	86					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514780	88514780	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:88514780A>C	uc001tar.3	-	13	1697	c.1353T>G	c.(1351-1353)taT>taG	p.Y451*	CEP290_uc001tat.3_Nonsense_Mutation_p.Y213*|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	451					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATACCGATTCATAATCTTTTA	0.363000													6	6					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033252	82033252	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr16:82033252G>T	uc002fgu.3	-	2	774	c.646C>A	c.(646-648)Ccc>Acc	p.P216T		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	216					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGGCTCCTGGGGTCCCCGTAG	0.547000													32	79					1.30998e-17	1.4569e-17	1	1	0
TBC1D20	128637	broad.mit.edu	37	20	422661	422661	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:422661G>T	uc002wds.3	-	3	502	c.364C>A	c.(364-366)Ctc>Atc	p.L122I	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_5'UTR	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	122	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCTTCCTGGAGCCCTTCTCTC	0.517000													5	52					1.23904e-05	1.27108e-05	1	1	0
PRCP	5547	broad.mit.edu	37	11	82560214	82560214	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:82560214T>C	uc001ozs.3	-	5	911	c.798A>G	c.(796-798)ccA>ccG	p.P266P	PRCP_uc001ozr.3_Silent_p.P287P	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	266	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAGAAGTTAATGGGCTGCATA	0.443000													15	53					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132379518	132379518	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:132379518A>T	uc003epa.4	+	0	379	c.137A>T	c.(136-138)gAg>gTg	p.E46V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Intron|UBA5_uc003epb.4_5'Flank|NPHP3_uc003eov.4_5'Flank|UBA5_uc010hts.1_Non-coding_Transcript	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	46					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGAGCTCAGAGGTGGTGGAT	0.672000													132	137					0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42176601	42176601	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:42176601T>A	uc003osa.4	-	5	563	c.517A>T	c.(517-519)Aca>Tca	p.T173S	MRPS10_uc011dup.2_Missense_Mutation_p.T132S	NM_018141	NP_060611	P82664	RT10_HUMAN	Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), nuclear gene encoding mitochondrial protein, mRNA.	173					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TATACCTTTGTTACTTCCATG	0.443000													32	79					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27328004	27328004	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:27328004G>C	uc002ylz.3	-	11	1724	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	APP_uc011acg.2_Silent_p.T16T|APP_uc010glk.3_Silent_p.T484T|APP_uc002yma.3_Silent_p.T489T|APP_uc011ach.2_Silent_p.T452T|APP_uc021whz.1_Silent_p.T508T|APP_uc021wia.1_Silent_p.T489T|APP_uc002ymb.3_Silent_p.T433T|APP_uc010glj.3_Silent_p.T377T|APP_uc021wib.1_Silent_p.T433T|APP_uc011aci.2_Silent_p.T398T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	508	Heparin-binding.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AATGCTTTAGGGTGTGCTGTC	0.483000													37	103					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563845	84563845	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr6:84563845C>T	uc003pke.3	+	2	355	c.204C>T	c.(202-204)gcC>gcT	p.A68A		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	68					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGACCGCAGCCTCAGGAAAGC	0.592000													11	95					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179322636	179322636	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:179322636G>A	uc003fkc.3	+	0	62	c.33G>A	c.(31-33)tcG>tcA	p.S11S	MRPL47_uc003fka.3_5'Flank|MRPL47_uc003fkb.3_5'Flank|MRPL47_uc003fjz.3_5'Flank|NDUFB5_uc021xhu.1_Silent_p.S11S|NDUFB5_uc003fke.3_Silent_p.S11S|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	11					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GGCGGGTTTCGGTTACTGCGG	0.617000													28	51					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525851	176525851	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:176525851G>A	uc001gkz.3	+	1	1557	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PAPPA2_uc001gky.1_Silent_p.G131G|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	131					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGGGTAGGGGATAGTCCTA	0.537000													11	120					0	0	1	0	0
MGC39584	441058	broad.mit.edu	37	GL000193.1	88216	88216	+	RNA	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrGL000193.1:88216C>T	uc003izx.3	-	0		c.160G>A			MGC39584_uc003izy.3_5'Flank					Homo sapiens uncharacterized LOC441058 (MGC39584), non-coding RNA.																		caacaccgtccgtgcaggcct	0.632000													3	12					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849239	52849239	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:52849239G>A	uc001ctt.3	-	12	2097	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	ORC1_uc010oni.2_Silent_p.L617L|ORC1_uc001ctu.3_Silent_p.L622L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	622	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACAGAAGGTCGAGCTGCCAGG	0.493000													38	87					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17069551	17069551	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:17069551A>T	uc002gqy.2	+	0	1578	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	MPRIP_uc002gqu.2_Intron|MPRIP_uc002gqv.2_Intron|MPRIP_uc002gqw.2_Intron|MPRIP_uc002gqx.2_Missense_Mutation_p.Q391L			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	906	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTCCCTGCAGCAGTGCTCC	0.627000													20	88					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572249	53572249	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:53572249T>C	uc010eqk.3	-	6	1954	c.1538A>G	c.(1537-1539)gAg>gGg	p.E513G	ZNF160_uc002qaq.4_Missense_Mutation_p.E513G|ZNF160_uc002qar.4_Missense_Mutation_p.E513G	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	513					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCCCACACTCATTACACTT	0.403000													16	29					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118895661	118895661	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:118895661T>C	uc010ryr.1	-	11	1753	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V	SLC37A4_uc009zan.2_Non-coding_Transcript|SLC37A4_uc010rys.1_Missense_Mutation_p.I416V|SLC37A4_uc010ryt.1_Missense_Mutation_p.I343V|SLC37A4_uc001pus.2_Missense_Mutation_p.I416V	NM_001164278	NP_001157750	O43826	G6PT1_HUMAN	Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA.	417					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTGGTGCGGATGTTTCGTAGG	0.597000													32	62					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99764611	99764611	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:99764611T>C	uc001dse.3	+	3	717	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R	LPPR4_uc010oue.2_Missense_Mutation_p.C187R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	187							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATTTGGATTATGCTCTACAGC	0.363000													31	51					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795754	113795754	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:113795754A>G	uc003eaz.3	+	5	833	c.747A>G	c.(745-747)tcA>tcG	p.S249S	QTRTD1_uc003eay.3_Silent_p.S237S|QTRTD1_uc011biq.2_Silent_p.S114S|QTRTD1_uc011bir.2_Silent_p.S131S|QTRTD1_uc003eba.3_Silent_p.S114S	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	237					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GCTTGCTGTCATCAGTCACTG	0.577000													4	179					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591257	14591257	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:14591257A>T	uc002myt.3	-	5	785	c.515T>A	c.(514-516)aTc>aAc	p.I172N	GIPC1_uc002myv.3_Missense_Mutation_p.I75N|GIPC1_uc002myu.3_Missense_Mutation_p.I172N|GIPC1_uc002myw.3_Missense_Mutation_p.I75N|GIPC1_uc002myx.3_Missense_Mutation_p.I172N|GIPC1_uc002myy.3_Missense_Mutation_p.I75N	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	172	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCACGCTGATGAGGTGGAT	0.677000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	167					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2201715	2201715	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:2201715A>G	uc002cou.3	+	3	502	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	RAB26_uc010bsf.3_Missense_Mutation_p.Q57R	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	Homo sapiens RAB26, member RAS oncogene family (RAB26), mRNA.	123					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						ACAGCTGGTCAGGAGCGGTTC	0.642000													74	215					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197513	44197513	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:44197513C>A	uc003oww.1	+	4	728	c.536C>A	c.(535-537)tCc>tAc	p.S179Y	SLC29A1_uc021yzw.1_Missense_Mutation_p.S100Y|SLC29A1_uc011dvp.1_Missense_Mutation_p.S119Y|SLC29A1_uc003owu.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owv.1_Missense_Mutation_p.S100Y|SLC29A1_uc011dvq.1_Missense_Mutation_p.S142Y|SLC29A1_uc003owx.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owy.1_Missense_Mutation_p.S100Y|SLC29A1_uc003owz.1_Missense_Mutation_p.S100Y|SLC29A1_uc021yzx.1_Missense_Mutation_p.S100Y	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	100					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TACCTCAACTCCTTCCTGCAT	0.597000													25	45					3.73988e-18	4.11387e-18	1	1	0
CASP3	836	broad.mit.edu	37	4	185552222	185552222	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr4:185552222G>T	uc003iwh.3	-	6	836	c.573C>A	c.(571-573)gcC>gcA	p.A191A	CASP3_uc003iwg.3_Intron|CASP3_uc003iwi.3_Silent_p.A191A	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	191					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAAGAAGTCGGCCTCCACTG	0.443000													3	59					1.024e-07	1.07276e-07	1	1	0
EME1	146956	broad.mit.edu	37	17	48457701	48457701	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:48457701T>C	uc002iqs.2	+	7	1457	c.1375T>C	c.(1375-1377)Ttc>Ctc	p.F459L	EME1_uc010dbp.2_Missense_Mutation_p.F472L|EME1_uc010dbq.2_Non-coding_Transcript|DQ599569_uc010wmk.1_5'Flank	NM_152463	NP_689676	Q96AY2	EME1_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA.	459					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TACCTTCTCCTTCTGTCTGGA	0.542000								Direct reversal of damage;Homologous recombination					83	59					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568199	5568199	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr7:5568199G>C	uc003sot.4	-	3	599	c.515C>G	c.(514-516)cCc>cGc	p.P172R	ACTB_uc003sor.4_Missense_Mutation_p.P50R|ACTB_uc003soq.4_Missense_Mutation_p.P50R	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	172					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GATGGCATGGGGGAGGGCATA	0.637000													8	271					0	0	1	0	0
FAM184B	27146	broad.mit.edu	37	4	17710845	17710845	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr4:17710845G>T	uc003gpm.4	-	1	777	c.564C>A	c.(562-564)ggC>ggA	p.G188G		NM_015688	NP_056503	Q9ULE4	F184B_HUMAN	Homo sapiens family with sequence similarity 184, member B (FAM184B), mRNA.	188										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CCGGGCCCTGGCCTGGCTCCG	0.677000													10	58					2.80697e-09	3.01236e-09	1	1	0
FBXL2	25827	broad.mit.edu	37	3	33415410	33415410	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:33415410C>T	uc003cfp.3	+	8	725	c.654C>T	c.(652-654)tgC>tgT	p.C218C	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Silent_p.C134C|FBXL2_uc021wuy.1_Silent_p.C150C|FBXL2_uc011axo.2_Silent_p.C113C|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	218					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGCAGTCCTGCTCAGTAAGTA	0.498000													52	61					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562915	176562915	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr5:176562915T>G	uc003mfr.4	+	1	949	c.811T>G	c.(811-813)Tta>Gta	p.L271V	NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.L271V|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.L271V|NSD1_uc003mfq.3_Missense_Mutation_p.L271V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	271					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGAGCAATTAAACTCAAT	0.383000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			24	43					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	104					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74409353	74409353	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr14:74409353A>T	uc001xpd.2	-	3	1379	c.991T>A	c.(991-993)Tcc>Acc	p.S331T		NM_152445	NP_689658			Homo sapiens family with sequence similarity 161, member B (FAM161B), mRNA.											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GCGATAGGGGAAGAGGCCATC	0.532000													14	45					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9440354	9440354	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr20:9440354G>A	uc021wam.1	+	30	3124	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1049K|PLCB4_uc021wal.1_Missense_Mutation_p.E1037K|PLCB4_uc002wnh.3_Missense_Mutation_p.E884K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1037					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGGAGCAAGAAATCCGAGA	0.502000													19	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048182	9048182	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:9048182C>T	uc002mkp.3	-	4	33653	c.33449G>A	c.(33448-33450)gGa>gAa	p.G11150E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11152	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACCATTCCTGGTACCTC	0.468000													28	81					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95710051	95710051	+	Missense_Mutation	SNP	A	A	T	rs138509057	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:95710051A>T	uc009wdu.3	+	1	446	c.370A>T	c.(370-372)Agt>Tgt	p.S124C	TMEM56_uc001drd.4_3'UTR|RWDD3_uc010oty.2_Missense_Mutation_p.S109C|RWDD3_uc009wdt.3_Missense_Mutation_p.S124C|RWDD3_uc001drh.4_Missense_Mutation_p.S109C|RWDD3_uc001dri.4_Missense_Mutation_p.S124C|RWDD3_uc001drf.4_Missense_Mutation_p.S124C|RWDD3_uc009wdv.3_Intron|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	124						cytoplasm|nucleus	protein binding	p.S124R(2)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TGGCAGTGGCAGTGAAAAGTG	0.438000													28	71					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121412648	121412648	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr5:121412648T>C	uc003ksu.3	-	1	1055	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	LOX_uc010jcp.3_5'Flank|LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_Intron|LOX_uc011cwk.2_5'UTR	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	227	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CTTCTGCACGTACGTGGACGC	0.632000											OREG0016741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													9	40					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136183765	136183765	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:136183765T>C	uc003era.1	-	12	1563	c.1271A>G	c.(1270-1272)cAt>cGt	p.H424R	STAG1_uc003erb.1_Missense_Mutation_p.H424R|STAG1_uc003erc.1_Missense_Mutation_p.H198R|STAG1_uc010hua.1_Missense_Mutation_p.H287R	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	424					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGGGCGATGTGCCGAGTA	0.393000													3	41					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133738297	133738297	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:133738297G>A	uc004bzw.3	+	3	700	c.697G>A	c.(697-699)Gac>Aac	p.D233N	ABL1_uc004bzv.3_Missense_Mutation_p.D252N|AX748265_uc004bzx.1_5'Flank	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	233					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCCAACTACGACAAGTGGGA	0.577000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								95	46					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22020564	22020564	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr18:22020564A>G	uc002kvh.4	+	5	584	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	IMPACT_uc002kvg.4_Missense_Mutation_p.I140V	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	158										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGATTTTGATATCAGTGAAAC	0.343000													3	70					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134505712	134505712	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:134505712C>T	uc022bos.1	-	6	814	c.655_splice	c.e6-1	p.E219_splice	RAPGEF1_uc022bot.1_Splice_Site_p.E201_splice|RAPGEF1_uc022bou.1_Splice_Site_p.E206_splice|RAPGEF1_uc022bov.1_Splice_Site_p.E206_splice	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	201					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGACCAGCTCCTACCCCCACA	0.592000													8	69					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496371	52496371	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:52496371G>A	uc002pyf.2	-	6	2308	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V	AK128361_uc021uys.1_Missense_Mutation_p.H27Y|ZNF615_uc002pye.2_Missense_Mutation_p.A653V|ZNF615_uc002pyh.2_Missense_Mutation_p.A664V|ZNF615_uc010epi.2_Missense_Mutation_p.A660V|ZNF615_uc002pyg.2_Missense_Mutation_p.A545V|ZNF615_uc010ydg.2_Missense_Mutation_p.A658V	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCAGTACATGCAAAGGAAGT	0.408000													31	77					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155172114	155172114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:155172114G>A	uc001fix.3	-	8	1141	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Nonsense_Mutation_p.R226*|THBS3_uc009wqi.3_Nonsense_Mutation_p.R337*|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	346	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTGTACCCTCGAGGACAGGCC	0.602000													34	88					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64517951	64517951	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:64517951T>A	uc001oax.4	-	16	2891	c.2074A>T	c.(2074-2076)Acc>Tcc	p.T692S	PYGM_uc001oay.4_Missense_Mutation_p.T604S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	692					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CCGTCCATGGTGCCAATGGTC	0.567000													30	55					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978564	58978564	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:58978564C>T	uc001nnu.4	-	0	1931	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	592						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGTGGGAGCCTGGCAGGGGG	0.582000													29	54					0	0	1	0	0
CHCHD8	51287	broad.mit.edu	37	11	73584202	73584202	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:73584202C>A	uc021qne.1	-	0	222	c.222G>T	c.(220-222)gaG>gaT	p.E74D	CHCHD8_uc001ouj.3_Missense_Mutation_p.E74D	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 8 (CHCHD8), mRNA.	74										lung(2)	2	Breast(11;7.42e-05)					TCTGCAGCTCCTCTTGCCGCC	0.612000													8	50					1.12685e-05	1.16206e-05	1	1	0
TTC30B	150737	broad.mit.edu	37	2	178416779	178416779	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:178416779C>T	uc002uln.3	-	0	746	c.713G>A	c.(712-714)aGt>aAt	p.S238N	TTC30B_uc010zfc.1_Missense_Mutation_p.S10N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	238					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGCCAACACTGCGAACATC	0.512000													38	137					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94938687	94938687	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr13:94938687A>C	uc001vlt.3	+	4	1594	c.962A>C	c.(961-963)gAa>gCa	p.E321A	GPC6_uc010tig.1_Missense_Mutation_p.E321A	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	321						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AAGATTTCTGAAGCCATTATG	0.423000													28	40					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550436	2550436	+	Silent	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:2550436G>T	uc002cql.3	+	6	1610	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	TBC1D24_uc002cqk.3_Silent_p.L484L|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	490	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						ACTTCAACCTGCCCTCCAAGA	0.692000													47	176					5.39261e-20	5.98172e-20	1	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643246	1643246	+	Silent	SNP	A	A	G	rs142004120	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:1643246A>G	uc009ycy.1	-	0	123	c.36T>C	c.(34-36)tcT>tcC	p.S12S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	106						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccagagccacagc	0.682000													4	133					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437696	122437696	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:122437696A>G	uc003efq.4	+	13	4757	c.4698A>G	c.(4696-4698)acA>acG	p.T1566T	PARP14_uc021xdc.1_Silent_p.T1430T|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.T1283T|PARP14_uc003efs.1_Silent_p.T1283T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1566	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAAAAAACAGTTGATGTCA	0.373000													32	90					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216232592	216232592	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:216232592A>G	uc002vfa.3	-	41	7278	c.7012T>C	c.(7012-7014)Tca>Cca	p.S2338P	FN1_uc002vfc.3_Missense_Mutation_p.S2101P|FN1_uc002vfe.3_Missense_Mutation_p.S2216P|FN1_uc002vff.3_Missense_Mutation_p.S2191P|FN1_uc002vfg.3_Missense_Mutation_p.S2157P|FN1_uc002vfh.3_Missense_Mutation_p.S2037P|FN1_uc002vfi.3_Missense_Mutation_p.S2307P|FN1_uc002vfj.3_Missense_Mutation_p.S2128P|FN1_uc002vfb.3_Missense_Mutation_p.S2126P|FN1_uc002vez.3_Missense_Mutation_p.S501P|FN1_uc010zjp.2_Missense_Mutation_p.S875P|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2247					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACTAGATGAATCACATCTG	0.458000													36	84					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56649978	56649978	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:56649978A>C	uc003dhz.3	+	12	1827	c.1740A>C	c.(1738-1740)gcA>gcC	p.A580A	CCDC66_uc003dhy.3_Silent_p.A216A|CCDC66_uc003dhu.3_Silent_p.A546A|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'UTR	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	580										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATATAATGCATCTAACATTT	0.294000													7	32					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50970983	50970983	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:50970983C>T	uc002psh.3	-	3	1001	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM71E1_uc002psg.3_Missense_Mutation_p.A199T|FAM71E1_uc002psi.3_Non-coding_Transcript	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	215										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TTGAGTGGGGCCCGCAGCTGC	0.602000													32	77					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53584383	53584383	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrX:53584383A>G	uc004dsp.3	-	59	8568	c.8166T>C	c.(8164-8166)acT>acC	p.T2722T	HUWE1_uc004dsn.3_Silent_p.T1546T|MIR98_uc004dsr.2_5'Flank|MIRLET7F2_uc004dss.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2722					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTTAGATGCAGTACACTGCA	0.428000													22	7					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5126752	5126752	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:5126752T>C	uc010mhm.3	+	23	3473	c.3360T>C	c.(3358-3360)gcT>gcC	p.A1120A	JAK2_uc003ziw.3_Silent_p.A1120A	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	1120	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGGATCTAGCTCTTCGAGTGG	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				34	12					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089159	161089159	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:161089159G>A	uc001fxv.2	+	2	439	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Missense_Mutation_p.E112K|NIT1_uc010pka.2_Missense_Mutation_p.E97K|NIT1_uc001fxy.2_Missense_Mutation_p.E76K	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	112	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACTTTTGGAAGAATACACCCA	0.532000											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	34					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37821723	37821723	+	Splice_Site	SNP	G	G	A	rs113187448		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:37821723G>A	uc002hsh.3	+	1	124	c.110_splice	c.e1+1	p.G37_splice	PNMT_uc002hsi.1_5'Flank	NM_003673	NP_003664	O15273	TELT_HUMAN	Homo sapiens titin-cap (telethonin) (TCAP), mRNA.	37					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	Z disc|cytosol	structural constituent of muscle|titin Z domain binding|titin binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCGAGGAGGGGTGAGTGTGGG	0.627000													28	84					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101559080	101559080	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:101559080G>A	uc001kqf.2	+	7	1123	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	328	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L328P(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CATTCCTACTGAAGCTAGTGA	0.463000													8	27					0	0	1	0	0
SRXN1	140809	broad.mit.edu	37	20	633661	633661	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr20:633661A>G	uc002wea.3	-	0	230	c.169T>C	c.(169-171)Ttg>Ctg	p.L57L	SRXN1_uc002web.3_Intron	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	57					response to oxidative stress	cytosol	ATP binding|DNA binding|antioxidant activity|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GCGGGGTCCAACACGGACGGC	0.731000													3	67					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92083893	92083893	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr7:92083893A>G	uc003ulx.1	+	3	792	c.513A>G	c.(511-513)agA>agG	p.R171R		NM_021167	NP_066990	Q8WUU5	GATD1_HUMAN	Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA.	171							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAAATCAGAGGTTTTATCC	0.458000													48	53					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978229	38978229	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:38978229G>A	uc002hvi.3	-	0	635	c.609C>T	c.(607-609)atC>atT	p.I203I	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	203	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TAAGGTCATCGATGGTTTTGT	0.393000													92	56					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7811178	7811178	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:7811178C>T	uc001ijt.3	-	8	892	c.798_splice	c.e8+1	p.E266_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E160_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	266					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ATAAACTGTACCTCCATGATT	0.343000													7	13					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46677589	46677589	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr22:46677589A>G	uc003bhi.3	+	6	785	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TTC38_uc011aqx.2_Missense_Mutation_p.M179V	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	237							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GTTGGAATTCATGCAGCACTC	0.512000													22	45					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432543	4432543	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:4432543A>C	uc021tch.1	+	0	1665	c.1665A>C	c.(1663-1665)acA>acC	p.T555T	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.T555T	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	555	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGCCCATACACCCCCAGCCG	0.731000													7	75					0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	72016037	72016037	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:72016037A>G	uc010vmm.2	-	6	1064	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AAAGGGGCAGACAGTTGGAGG	0.473000													28	96					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	985477	985477	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:985477T>C	uc001lst.2	+	7	1073	c.860T>C	c.(859-861)aTc>aCc	p.I287T	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.I286T	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	286					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGAGACCATCCTGAACAAA	0.592000													42	82					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													3	119					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53288491	53288491	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:53288491A>G	uc002ehb.3	+	16	4167	c.4003A>G	c.(4003-4005)Agt>Ggt	p.S1335G	CHD9_uc002egy.3_Missense_Mutation_p.S1335G|CHD9_uc002ehc.3_Missense_Mutation_p.S1335G|CHD9_uc002ehf.3_Missense_Mutation_p.S449G|CHD9_uc002ehg.2_Missense_Mutation_p.S449G|CHD9_uc002ehd.2_Missense_Mutation_p.S861G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1335	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGAGCATGAGTGGAAGAGA	0.378000													29	81					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321821	90321821	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:90321821T>G	uc004apc.3	+	25	3973	c.3835T>G	c.(3835-3837)Ttc>Gtc	p.F1279V	DAPK1_uc004apd.3_Missense_Mutation_p.F1279V|DAPK1_uc011ltg.2_Missense_Mutation_p.F1213V|DAPK1_uc011lth.2_Missense_Mutation_p.F1016V|DAPK1_uc004apg.2_Missense_Mutation_p.F256V	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1279					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAAGGAAAGCTTCAGCAGCAT	0.567000									Chronic Lymphocytic Leukemia, Familial Clustering of				68	24					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120428098	120428098	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:120428098C>T	uc001txl.1	+	0	451	c.426C>T	c.(424-426)ctC>ctT	p.L142L	CCDC64_uc001txk.2_Silent_p.L142L|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	142					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACAAGCTCGAGGTGAGGA	0.657000													50	155					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974893	16974893	+	RNA	SNP	C	C	T	rs142845834	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:16974893C>T	uc010och.2	+	6		c.1353C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCGCACAAGCCGCAGTGAATC	0.677000													4	101					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163046173	163046173	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:163046173A>G	uc002ucd.3	-	17	1750	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	FAP_uc010fpc.3_Silent_p.D63D|FAP_uc010zct.2_Silent_p.D489D	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	514					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACTAATTTCATCTACTTCAA	0.284000													37	23					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17674521	17674521	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:17674521A>T	uc001baj.2	+	9	1161	c.1133A>T	c.(1132-1134)gAg>gTg	p.E378V	PADI4_uc009vpc.2_Missense_Mutation_p.E378V	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	378					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.K377K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGCCTGAAGGAGTTTCCCATC	0.567000													19	47					0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47698325	47698325	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr7:47698325G>A	uc010kyp.1	+	1	140	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	35										endometrium(1)|lung(2)	3						taagcaacttgcccaggccac	0.423000													5	76					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88474150	88474150	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:88474150C>T	uc001tar.3	-	37	5379	c.5035G>A	c.(5035-5037)Gaa>Aaa	p.E1679K	CEP290_uc001taq.3_Missense_Mutation_p.E739K	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1679					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTTCACTTCATCTTCATGG	0.348000													18	25					0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53900627	53900627	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:53900627C>T	uc001sdw.1	-	2	439	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_003717	NP_003708	O15130	NPFF_HUMAN	Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA.	92					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CTCTCCAGCCCGGGGACTCAG	0.552000													9	48					0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95906070	95906070	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr14:95906070C>T	uc001yei.4	-	11	2140	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	C14orf49_uc010avi.3_Missense_Mutation_p.A709T	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	709					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CAGCCCTGCGCTTCCACCAGG	0.637000													7	103					0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882025	148882025	+	RNA	SNP	C	C	T	rs150449871	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:148882025C>T	uc009wkv.1	+	2		c.246C>T								Homo sapiens cDNA, FLJ17483.																		TGTTTTCTAGCAGTGACAAAT	0.343000													4	100					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749356	234749356	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:234749356G>C	uc002vvg.3	-	7	2136	c.2070C>G	c.(2068-2070)ggC>ggG	p.G690G	HJURP_uc010znd.2_Silent_p.G629G|HJURP_uc010zne.2_Silent_p.G598G	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	690					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GGCGTCCGGAGCCCTGGGGTT	0.592000													51	41					0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5086868	5086868	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr20:5086868C>T	uc002wlk.3	-	3	436	c.377G>A	c.(376-378)gGc>gAc	p.G126D	TMEM230_uc010gbi.3_Missense_Mutation_p.G63D|TMEM230_uc002wll.3_Missense_Mutation_p.G63D|TMEM230_uc002wlm.3_Missense_Mutation_p.G63D|TMEM230_uc002wln.3_Missense_Mutation_p.G63D	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	63						integral to membrane											CAGGAGGGAGCCTATAATAAT	0.453000													5	62					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145638017	145638017	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr5:145638017A>G	uc003lnz.4	+	10	1766	c.1600A>G	c.(1600-1602)Aac>Gac	p.N534D	RBM27_uc003lny.2_Missense_Mutation_p.N479D	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	534					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGCTGCTAACATTGTGAT	0.343000													3	49					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39607523	39607523	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:39607523C>T	uc003oot.2	-	3	357	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.G88S|KIF6_uc010jxb.1_Missense_Mutation_p.G88S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	88	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCATTGTAACCTGCCAGGACA	0.408000													8	57					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370209	131370209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:131370209G>T	uc004bvl.4	+	32	4367	c.4225G>T	c.(4225-4227)Gga>Tga	p.G1409*	SPTAN1_uc004bvm.4_Nonsense_Mutation_p.G1409*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.G1389*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1409					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.G1409R(2)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTTGGCTCACGGACACTATGC	0.547000													4	108					0.014758	0.0148706	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640158	99640158	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:99640158G>A	uc001tge.2	-	12	2658	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	ANKS1B_uc001tgf.2_Silent_p.S327S|ANKS1B_uc001tgk.3_Silent_p.S44S|ANKS1B_uc009ztt.1_Silent_p.S713S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	747						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTCATTGGAAGGATAGG	0.413000													86	92					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1093744	1093744	+	Silent	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr5:1093744C>A	uc003jbu.3	-	2	312	c.246G>T	c.(244-246)gtG>gtT	p.V82V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	82					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGCGAGGACACCATGGGGT	0.682000													36	88					6.48837e-15	7.0202e-15	1	1	0
TBC1D3F	84218	broad.mit.edu	37	17	36353796	36353796	+	Splice_Site	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:36353796A>T	uc002hpr.2	-	1	1	c.-360_splice	c.e1-1		TBC1D3F_uc010cvk.2_Intron|TBC1D3F_uc010wdn.1_Intron	NM_001123391	NP_001116863	A6NER0	TBC3F_HUMAN	Homo sapiens TBC1 domain family, member 3 (TBC1D3), mRNA.							intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						TACTTAAAGAAATTGAAATGA	0.323000													37	632					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78811724	78811724	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr17:78811724A>C	uc002jyt.1	+	9	1944	c.1139A>C	c.(1138-1140)cAa>cCa	p.Q380P	RPTOR_uc010wuf.1_Missense_Mutation_p.Q195P|RPTOR_uc010wug.1_Missense_Mutation_p.Q380P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	380					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCCGCAGGCAAGCCTGGGAC	0.612000													26	105					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227601	74227601	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:74227601C>T	uc003phi.3	-	6	2313	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	EEF1A1_uc003phj.3_Missense_Mutation_p.V441M|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.S85N|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	441						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCTTGTCCACTGCTTTGATG	0.443000											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	50					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:247053281C>T	uc001ibv.2	-	16	2255	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	711	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E711Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338000													8	20					0	0	1	0	0
C2orf81	388963	broad.mit.edu	37	2	74642280	74642280	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:74642280T>G	uc010yrq.1	-	3	1252	c.943A>C	c.(943-945)Acc>Ccc	p.T315P	DQ588163_uc002sla.3_5'Flank	NM_001145054	NP_001138526			Homo sapiens chromosome 2 open reading frame 81 (C2orf81), mRNA.											endometrium(3)|kidney(1)	4						GAGGGGCGGGTGGCGCCGCCC	0.716000													7	86					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr20:60895706A>C	uc002ycq.3	-	49	6735	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R	LAMA5_uc021wfw.1_Missense_Mutation_p.L2223R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2223	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L2223R(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGGGGCCCAGGGGGCTCCG	0.706000													4	47					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654194	46654194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr22:46654194G>A	uc003bhh.3	-	0	5026	c.5026C>T	c.(5026-5028)Cag>Tag	p.Q1676*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1676					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGGACGATCTGGTCATGTATC	0.418000													23	33					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592281	6592281	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:6592281A>C	uc001mdw.4	+	41	14103	c.13539A>C	c.(13537-13539)gcA>gcC	p.A4513A	DNHD1_uc001mea.4_Silent_p.A782A|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Silent_p.A781A|DNHD1_uc010rao.2_Silent_p.A771A|DNHD1_uc009yfg.3_Silent_p.A138A	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4513					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAAGGGCGCACCCCCGTGCC	0.677000													5	22					0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48163092	48163092	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrX:48163092G>A	uc022bvu.1	-	2	229	c.227C>T	c.(226-228)gCc>gTc	p.A76V						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						GAGGTCTGTGGCCCCTGTATT	0.478000													4	138					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100177417	100177417	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:100177417G>A	uc021pwv.1	-	19	2253	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	669					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACAGGTGCAGGGCCAGCAGCT	0.662000									Hermansky-Pudlak syndrome				50	127					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089251	113089251	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:113089251G>C	uc002thq.1	+	11	3150	c.2756G>C	c.(2755-2757)aGt>aCt	p.S919T		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	919							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AATACAAAAAGTGATCTTCAT	0.388000													24	41					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084873	58084873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:58084873A>T	uc002qpf.3	-	3	570	c.399T>A	c.(397-399)tgT>tgA	p.C133*		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAAAGACCGCACATGCCCCAG	0.507000													50	77					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10062249	10062249	+	Silent	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrX:10062249A>T	uc004csx.4	+	6	783	c.585A>T	c.(583-585)gtA>gtT	p.V195V	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	195										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCACCATGTAGGCGTGCCTG	0.577000													6	56					0	0	1	0	0
AK074396	0	broad.mit.edu	37	9	133306791	133306791	+	Silent	SNP	C	C	T	rs35509713	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr9:133306791C>T	uc004bzl.3	+	1	361	c.108C>T	c.(106-108)caC>caT	p.H36H						Homo sapiens cDNA FLJ23816 fis, clone HSI02685.																		TGTGTCAGCACGCCTGCCGCA	0.697000													4	110					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642976	1642976	+	Silent	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:1642976A>C	uc009ycy.1	-	1	330	c.243T>G	c.(241-243)ggT>ggG	p.G81G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	176	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662000													4	61					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50847398	50847398	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:50847398T>C	uc001rwp.2	+	8	1162	c.960T>C	c.(958-960)taT>taC	p.Y320Y	LARP4_uc001rwq.2_Intron|LARP4_uc001rwt.2_Intron|LARP4_uc001rws.2_Silent_p.Y319Y|LARP4_uc001rwr.2_Silent_p.Y320Y|LARP4_uc021qxv.1_Silent_p.Y250Y|LARP4_uc009zlr.1_Silent_p.Y139Y|LARP4_uc001rwm.3_Silent_p.Y320Y|LARP4_uc001rwn.3_Silent_p.Y250Y	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	320							RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTCGGTCTATAGTATTGTGC	0.373000													33	88					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25224425	25224425	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr8:25224425A>G	uc003xeg.3	+	30	3300	c.3163A>G	c.(3163-3165)Acc>Gcc	p.T1055A	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T769A|DOCK5_uc003xei.3_Missense_Mutation_p.T625A|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1055						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCATTTCTCACCCATGAGTC	0.383000													3	35					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184129218	184129218	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr4:184129218C>T	uc010irx.3	+	2	536	c.354C>T	c.(352-354)taC>taT	p.Y118Y	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	118										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGGAACTGTACCATGTGAAGG	0.493000													4	110					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834831	24834831	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:24834831G>A	uc001iru.4	+	20	5813	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T	KIAA1217_uc001irs.3_Missense_Mutation_p.A1125T|KIAA1217_uc001irt.4_Missense_Mutation_p.A1170T|KIAA1217_uc010qcy.2_Missense_Mutation_p.A1235T|KIAA1217_uc010qcz.2_Missense_Mutation_p.A1210T|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1804	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAGATTCCAGCCCTTTCTCC	0.493000													4	121					0	0	1	0	0
C5orf65	389333	broad.mit.edu	37	5	138727939	138727939	+	Silent	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr5:138727939A>G	uc011czc.1	-	0	2947	c.2832T>C	c.(2830-2832)taT>taC	p.Y944Y	MZB1_uc003lei.3_5'Flank|MZB1_uc010jfd.3_5'Flank|MZB1_uc010jfe.3_5'Flank|MZB1_uc003lej.3_5'Flank	NM_001161546	NP_001155018	B4E007	B4E007_HUMAN	Homo sapiens chromosome 5 open reading frame 65 (C5orf65), mRNA.	383										breast(1)|skin(1)	2						GTATAGGCCCATAGGCGGGCG	0.736000													24	71					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2245452	2245452	+	Silent	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:2245452C>A	uc002lvg.3	+	4	375	c.253C>A	c.(253-255)Cga>Aga	p.R85R		NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	85					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCCGGCGAGCAGCCAA	0.667000													8	144					2.17888e-05	2.22955e-05	1	1	0
PLCE1	51196	broad.mit.edu	37	10	96005839	96005839	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:96005839A>G	uc001kjk.3	+	7	3191	c.2557A>G	c.(2557-2559)Atc>Gtc	p.I853V	PLCE1_uc010qnx.2_Missense_Mutation_p.I853V|PLCE1_uc001kjm.3_Missense_Mutation_p.I545V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	853					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CGTGCTGTCCATCCAAGCCGA	0.572000													18	155					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496372	52496372	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:52496372C>T	uc002pyf.2	-	6	2307	c.1990G>A	c.(1990-1992)Gca>Aca	p.A664T	AK128361_uc021uys.1_Silent_p.L26L|ZNF615_uc002pye.2_Missense_Mutation_p.A653T|ZNF615_uc002pyh.2_Missense_Mutation_p.A664T|ZNF615_uc010epi.2_Missense_Mutation_p.A660T|ZNF615_uc002pyg.2_Missense_Mutation_p.A545T|ZNF615_uc010ydg.2_Missense_Mutation_p.A658T	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCAGTACATGCAAAGGAAGTC	0.403000													32	78					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183226047	183226047	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:183226047C>T	uc003flr.3	-	2	767	c.709G>A	c.(709-711)Gag>Aag	p.E237K	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.E235K	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	237	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATCACGGTCTCAAACACCTGa	0.547000													55	169					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68930403	68930403	+	Splice_Site	SNP	C	C	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr4:68930403C>A	uc003hdt.1	-	8	1064	c.1015_splice	c.e8+1	p.G339_splice	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	339	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AACTGCTCACCATCATCTACA	0.363000													13	18					4.3838e-07	4.55639e-07	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6637492	6637492	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:6637492T>C	uc001qoo.2	+	24	3343	c.3297T>C	c.(3295-3297)gcT>gcC	p.A1099A	NCAPD2_uc009zen.1_Silent_p.A971A|NCAPD2_uc010sfd.1_Silent_p.A1054A	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1099					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ATCTGTATGCTCGGTAAGAGA	0.577000													25	86					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514780	88514780	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr12:88514780A>C	uc001tar.3	-	13	1697	c.1353T>G	c.(1351-1353)taT>taG	p.Y451*	CEP290_uc001tat.3_Nonsense_Mutation_p.Y213*|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	451					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATACCGATTCATAATCTTTTA	0.363000													6	6					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:1643049A>C	uc009ycy.1	-	1	257	c.170T>G	c.(169-171)gTc>gGc	p.V57G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	152	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													7	45					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033252	82033252	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:82033252G>T	uc002fgu.3	-	2	774	c.646C>A	c.(646-648)Ccc>Acc	p.P216T		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	216					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGGCTCCTGGGGTCCCCGTAG	0.547000													32	79					1.30998e-17	1.42907e-17	1	1	0
PRCP	5547	broad.mit.edu	37	11	82560214	82560214	+	Silent	SNP	T	T	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:82560214T>C	uc001ozs.3	-	5	911	c.798A>G	c.(796-798)ccA>ccG	p.P266P	PRCP_uc001ozr.3_Silent_p.P287P	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	266	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						GAGAAGTTAATGGGCTGCATA	0.443000													15	53					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132379518	132379518	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:132379518A>T	uc003epa.4	+	0	379	c.137A>T	c.(136-138)gAg>gTg	p.E46V	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Intron|UBA5_uc003epb.4_5'Flank|NPHP3_uc003eov.4_5'Flank|UBA5_uc010hts.1_Non-coding_Transcript	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	46					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGAGCTCAGAGGTGGTGGAT	0.672000													132	137					0	0	1	0	0
MRPS10	55173	broad.mit.edu	37	6	42176601	42176601	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:42176601T>A	uc003osa.4	-	5	563	c.517A>T	c.(517-519)Aca>Tca	p.T173S	MRPS10_uc011dup.2_Missense_Mutation_p.T132S	NM_018141	NP_060611	P82664	RT10_HUMAN	Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), nuclear gene encoding mitochondrial protein, mRNA.	173					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			TATACCTTTGTTACTTCCATG	0.443000													32	79					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27328004	27328004	+	Silent	SNP	G	G	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr21:27328004G>C	uc002ylz.3	-	11	1724	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	APP_uc011acg.2_Silent_p.T16T|APP_uc010glk.3_Silent_p.T484T|APP_uc002yma.3_Silent_p.T489T|APP_uc011ach.2_Silent_p.T452T|APP_uc021whz.1_Silent_p.T508T|APP_uc021wia.1_Silent_p.T489T|APP_uc002ymb.3_Silent_p.T433T|APP_uc010glj.3_Silent_p.T377T|APP_uc021wib.1_Silent_p.T433T|APP_uc011aci.2_Silent_p.T398T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	508	Heparin-binding.				G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AATGCTTTAGGGTGTGCTGTC	0.483000													37	103					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563845	84563845	+	Silent	SNP	C	C	T			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:84563845C>T	uc003pke.3	+	2	355	c.204C>T	c.(202-204)gcC>gcT	p.A68A		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	68					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						TGACCGCAGCCTCAGGAAAGC	0.592000													11	95					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179322636	179322636	+	Silent	SNP	G	G	A			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr3:179322636G>A	uc003fkc.3	+	0	62	c.33G>A	c.(31-33)tcG>tcA	p.S11S	MRPL47_uc003fka.3_5'Flank|MRPL47_uc003fkb.3_5'Flank|MRPL47_uc003fjz.3_5'Flank|NDUFB5_uc021xhu.1_Silent_p.S11S|NDUFB5_uc003fke.3_Silent_p.S11S|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	11					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GGCGGGTTTCGGTTACTGCGG	0.617000													28	51					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154033038	154033049	+	In_Frame_Del	DEL	ATGTAAGTGATG	ATGTAAGTGATG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:154033038_154033049delATGTAAGTGATG	uc001fdw.3	-	19	2889_2900	c.2817_2828delCATCACTTACAT	c.(2815-2829)accatcacttacatg>acg	p.ITYM940del	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_In_Frame_Del_p.ITYM940del	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	940						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCTGCTTCCATGTAAGTGATGGTGACAACAC	0.415													14	51	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202566051	202566052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr1:202566051_202566052delAG	uc001gye.3	-	8	1286_1287	c.1093_1094delCT	c.(1093-1095)ctgfs	p.L365fs	SYT2_uc010pqb.2_Frame_Shift_Del_p.L365fs|SYT2_uc009xaf.3_Frame_Shift_Del_p.L195fs	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	365	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTTCTTGCCCAGCTTGTCATAG	0.584													32	91	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25505312	25505312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:25505312delG	uc002rgc.3	-	3	703	c.446delC	c.(445-447)gcgfs	p.A149fs	DNMT3A_uc002rgd.3_Frame_Shift_Del_p.A149fs|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgf.3_Frame_Shift_Del_p.A149fs	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	149					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCTTCTGCAGG	0.637			"""Mis, F, N, S"""		AML								67	79	---	---	---	---					
LRP2	4036	broad.mit.edu	37	2	170096143	170096143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:170096143delA	uc002ues.3	-	25	4401	c.4188delT	c.(4186-4188)attfs	p.I1396fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1396	EGF-like 6; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAGCCTAGAATATCACATT	0.438													15	201	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233498655	233498656	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr2:233498655_233498656insAC	uc002vtc.3	+	0	449_450	c.241_242insAC	c.(241-243)tacfs	p.Y81fs	EFHD1_uc010fyf.3_Intron	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	81							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CTTCAACCCCTACACGGAGTTC	0.708													13	14	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	3080674	3080675	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr3:3080674_3080675insTA	uc003bpc.3	+	18	2489_2490	c.2150_2151insTA	c.(2149-2151)gttfs	p.V717fs	CNTN4_uc003bpb.1_Frame_Shift_Ins_p.V388fs|CNTN4_uc021wsg.1_Frame_Shift_Ins_p.V717fs|CNTN4_uc003bpe.3_Frame_Shift_Ins_p.V389fs|CNTN4_uc003bpf.3_Frame_Shift_Ins_p.V388fs|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	717	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTGAACTGGTTATAACCTGGG	0.450													10	148	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28984648	28984650	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984648_28984650delCTC	uc003xhh.4	-	24	3270_3272	c.3211_3213delGAG	c.(3211-3213)gagdel	p.E1071del	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1071					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGGAAGGTCTCATGTGTTCTG	0.424													10	87	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28984652	28984654	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr8:28984652_28984654delTGT	uc003xhh.4	-	24	3266_3268	c.3207_3209delACA	c.(3205-3210)acacat>act	p.H1070del	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1070					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAAGGTCTCATGTGTTCTGGGGG	0.429													10	89	---	---	---	---					
OAT	4942	broad.mit.edu	37	10	126100644	126100644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr10:126100644delT	uc001lhp.3	-	1	230	c.97delA	c.(97-99)acafs	p.T33fs	OAT_uc001lhr.3_Intron|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	CCTTGGACTGTTTTTTTAGTT	0.433													27	69	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71733436	71733436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr11:71733436delG	uc001orl.1	-	6	493	c.321delC	c.(319-321)accfs	p.T107fs	NUMA1_uc001ork.1_Frame_Shift_Del_p.T107fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.T107fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.T107fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.T107fs|NUMA1_uc009ysy.2_Frame_Shift_Del_p.T107fs|NUMA1_uc001orp.3_Frame_Shift_Del_p.T107fs|NUMA1_uc001orq.3_Frame_Shift_Del_p.T107fs|NUMA1_uc021qmw.1_Frame_Shift_Del_p.T107fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	107					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGAGCTCATGGTAGAGTGGT	0.517			T	RARA	APL								21	48	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													50	34	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397498	17397501	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs10606406		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr19:17397498_17397501delTGTT	uc010xpn.1	+	7	2044_2047	c.1930_1933delTGTT	c.(1930-1935)tgtttgfs	p.C644fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtttgtgtgtgtg	0.529													8	4	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33567508	33567512	+	Frame_Shift_Del	DEL	TCGCT	TCGCT	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr20:33567508_33567512delTCGCT	uc002xbi.2	+	6	686_690	c.369_373delTCGCT	c.(367-375)cctcgcttcfs	p.P123fs	MYH7B_uc010gfa.1_Frame_Shift_Del_p.P81fs	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	81	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.P122Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAACCCGCCTCGCTTCGACTTACT	0.629													29	48	---	---	---	---					
AK311573	0	broad.mit.edu	37	21	10475856	10475856	+	RNA	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr21:10475856delG	uc011abv.2	-	4		c.662delC								Homo sapiens cDNA, FLJ18615.																		TATAGAGGATGGCTCTCTGCT	0.498													2	4	---	---	---	---					
abParts	0	broad.mit.edu	37	22	22995053	22995054	+	Splice_Site	INS	-	-	G	rs149784470	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	ac797190-ad63-4351-9d7b-129d999487c2	g.chr22:22995053_22995054insG	uc021wml.1	+	164		c.8761_splice	c.e164+2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		tgtgagtgtgtggggggtgtgg	0.520													4	3	---	---	---	---					
MMEL1	79258	broad.mit.edu	37	1	2560819	2560821	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:2560819_2560821delCAG	uc001ajy.2	-	1	317_319	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	35					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGGTCACcagcagcagcagc	0.739													8	176	---	---	---	---					
LOC388692	388692	broad.mit.edu	37	1	149287128	149287129	+	RNA	DEL	CT	CT	-	rs67979441		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:149287128_149287129delCT	uc010pbf.1	+	0		c.7653_7654delCT			LOC388692_uc001esg.4_5'Flank					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		GGGGACTGGCCTCTCTGCACGG	0.594													3	4	---	---	---	---					
NUP210L	91181	broad.mit.edu	37	1	154033038	154033049	+	In_Frame_Del	DEL	ATGTAAGTGATG	ATGTAAGTGATG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:154033038_154033049delATGTAAGTGATG	uc001fdw.3	-	19	2889_2900	c.2817_2828delCATCACTTACAT	c.(2815-2829)accatcacttacatg>acg	p.ITYM940del	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_In_Frame_Del_p.ITYM940del	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	940						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCTGCTTCCATGTAAGTGATGGTGACAACAC	0.415													14	51	---	---	---	---					
SYT2	127833	broad.mit.edu	37	1	202566051	202566052	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr1:202566051_202566052delAG	uc001gye.3	-	8	1286_1287	c.1093_1094delCT	c.(1093-1095)ctgfs	p.L365fs	SYT2_uc010pqb.2_Frame_Shift_Del_p.L365fs|SYT2_uc009xaf.3_Frame_Shift_Del_p.L195fs	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	365	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTTCTTGCCCAGCTTGTCATAG	0.584													32	91	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25505312	25505312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:25505312delG	uc002rgc.3	-	3	703	c.446delC	c.(445-447)gcgfs	p.A149fs	DNMT3A_uc002rgd.3_Frame_Shift_Del_p.A149fs|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgf.3_Frame_Shift_Del_p.A149fs	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	149					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCTTCTGCAGG	0.637			"""Mis, F, N, S"""		AML								67	79	---	---	---	---					
LRP2	4036	broad.mit.edu	37	2	170096143	170096143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr2:170096143delA	uc002ues.3	-	25	4401	c.4188delT	c.(4186-4188)attfs	p.I1396fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1396	EGF-like 6; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGAGCCTAGAATATCACATT	0.438													15	201	---	---	---	---					
FAM46A	55603	broad.mit.edu	37	6	82461728	82461742	+	In_Frame_Del	DEL	CCGCCGAAGTCGCCG	CCGCCGAAGTCGCCG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr6:82461728_82461742delCCGCCGAAGTCGCCG	uc003pjf.3	-	1	487_501	c.174_188delCGGCGACTTCGGCGG	c.(172-189)ggcggcgacttcggcggt>ggt	p.58_63GGDFGG>G	FAM46A_uc003pjg.3_In_Frame_Del_p.39_44GGDFGG>G|FAM46A_uc003pjh.1_In_Frame_Del_p.39_44GGDFGG>G	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	Homo sapiens family with sequence similarity 46, member A (FAM46A), mRNA.	39										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		gctgccgccaccgccgaagtcgccgccgccgaagt	0.670													18	63	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28984648	28984650	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr8:28984648_28984650delCTC	uc003xhh.4	-	24	3270_3272	c.3211_3213delGAG	c.(3211-3213)gagdel	p.E1071del	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1071					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CATGGAAGGTCTCATGTGTTCTG	0.424													10	87	---	---	---	---					
KIF13B	23303	broad.mit.edu	37	8	28984652	28984654	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr8:28984652_28984654delTGT	uc003xhh.4	-	24	3266_3268	c.3207_3209delACA	c.(3205-3210)acacat>act	p.H1070del	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1070					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAAGGTCTCATGTGTTCTGGGGG	0.429													10	89	---	---	---	---					
ZBTB10	65986	broad.mit.edu	37	8	81399048	81399050	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr8:81399048_81399050delGTC	uc003ybx.4	+	0	601_603	c.3_5delGTC	c.(1-6)atgtcg>atg	p.S2del	ZBTB10_uc003ybv.4_Intron|ZBTB10_uc003ybw.4_In_Frame_Del_p.S2del|ZBTB10_uc022awq.1_In_Frame_Del_p.S2del|ZBTB10_uc010lzt.3_In_Frame_Del_p.S2del|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	2					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			cgcgcgccATGTCGTTCAGTGAA	0.764													8	2	---	---	---	---					
OAT	4942	broad.mit.edu	37	10	126100644	126100644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr10:126100644delT	uc001lhp.3	-	1	230	c.97delA	c.(97-99)acafs	p.T33fs	OAT_uc001lhr.3_Intron|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	33					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	CCTTGGACTGTTTTTTTAGTT	0.433													27	69	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71733436	71733436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr11:71733436delG	uc001orl.1	-	6	493	c.321delC	c.(319-321)accfs	p.T107fs	NUMA1_uc001ork.1_Frame_Shift_Del_p.T107fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.T107fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.T107fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.T107fs|NUMA1_uc009ysy.2_Frame_Shift_Del_p.T107fs|NUMA1_uc001orp.3_Frame_Shift_Del_p.T107fs|NUMA1_uc001orq.3_Frame_Shift_Del_p.T107fs|NUMA1_uc021qmw.1_Frame_Shift_Del_p.T107fs	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	107					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGAGCTCATGGTAGAGTGGT	0.517			T	RARA	APL								21	48	---	---	---	---					
PARD6A	50855	broad.mit.edu	37	16	67695546	67695547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr16:67695546_67695547insC	uc002ett.3	+	1	343_344	c.252_253insC	c.(250-255)gggcccfs	p.G84fs	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.3_Frame_Shift_Ins_p.G84fs	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog alpha (C. elegans) (PARD6A), transcript variant 1, mRNA.	84	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGCCAGCGGGCCCCCGCCACT	0.658													8	105	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr18:3452223delT	uc002klz.3	+	0	633	c.246delT	c.(244-246)cctfs	p.P82fs	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	82					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													15	37	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397498	17397501	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs10606406		TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:17397498_17397501delTGTT	uc010xpn.1	+	7	2044_2047	c.1930_1933delTGTT	c.(1930-1935)tgtttgfs	p.C644fs	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_3'UTR|ANKLE1_uc010eao.1_3'UTR|ANKLE1_uc002nfy.2_3'UTR|ANKLE1_uc002nfz.2_3'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtttgtgtgtgtg	0.529													8	4	---	---	---	---					
TPRX1	284355	broad.mit.edu	37	19	48305639	48305650	+	In_Frame_Del	DEL	GGGCCTGGGATC	GGGCCTGGGATC	-	rs112397458	by1000genomes	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:48305639_48305650delGGGCCTGGGATC	uc002php.2	-	1	758_769	c.618_629delGATCCCAGGCCC	c.(616-630)ccgatcccaggccca>cca	p.206_210PIPGP>P		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	206	Gly-rich.			P -> L (in Ref. 1; BAC05130).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P210P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgagattgggcctgggatcgggcctggga	0.675													18	37	---	---	---	---					
GRWD1	83743	broad.mit.edu	37	19	48953775	48953775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr19:48953775delG	uc002pjd.2	+	3	907	c.674delG	c.(673-675)cggfs	p.R225fs		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	225						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTCCCCCCGGGTGACCGGT	0.667													16	36	---	---	---	---					
MYH7B	57644	broad.mit.edu	37	20	33567508	33567512	+	Frame_Shift_Del	DEL	TCGCT	TCGCT	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr20:33567508_33567512delTCGCT	uc002xbi.2	+	6	686_690	c.369_373delTCGCT	c.(367-375)cctcgcttcfs	p.P123fs	MYH7B_uc010gfa.1_Frame_Shift_Del_p.P81fs	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	81	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.P122Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAACCCGCCTCGCTTCGACTTACT	0.629													29	48	---	---	---	---					
AK311573	0	broad.mit.edu	37	21	10475856	10475856	+	RNA	DEL	G	G	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr21:10475856delG	uc011abv.2	-	4		c.662delC								Homo sapiens cDNA, FLJ18615.																		TATAGAGGATGGCTCTCTGCT	0.498													2	4	---	---	---	---					
DIP2A	23181	broad.mit.edu	37	21	47985760	47985761	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chr21:47985760_47985761delTG	uc002zjo.2	+	35	4482_4483	c.4299_4300delTG	c.(4297-4302)cttggcfs	p.L1433fs	DIP2A_uc011afz.1_Frame_Shift_Del_p.L1429fs|DIP2A_uc002zjs.2_Frame_Shift_Del_p.L113fs|DIP2A_uc002zjt.2_Non-coding_Transcript	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1433					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGGCTACCTTGGCTTCCTTCG	0.614													35	82	---	---	---	---					
STARD8	9754	broad.mit.edu	37	X	67940201	67940202	+	Frame_Shift_Ins	INS	-	-	C	rs41303723	byFrequency	TCGA-GL-A59T-01A-21D-A28G-10	TCGA-GL-A59T-11A-11D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c895d83d-e672-4e7a-bcd6-d068d309c625	19be2ecb-9084-42f7-ab44-3e6517e2271b	g.chrX:67940201_67940202insC	uc004dxb.3	+	7	2199_2200	c.1985_1986insC	c.(1984-1986)ggcfs	p.G662fs	STARD8_uc004dxa.3_Frame_Shift_Ins_p.G582fs|STARD8_uc004dxc.4_Frame_Shift_Ins_p.G582fs	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	582	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGCGCACGGGCCAGCCACTGC	0.619													8	211	---	---	---	---					
