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
MAMDC4	158056	broad.mit.edu	37	9	139748712	139748712	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:139748712C>T	uc004cjs.3	+	6	770	c.720C>T	c.(718-720)gtC>gtT	p.V240V	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	240	LDL-receptor class A 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGAACAAGGTCTGCGTGGAGC	0.667000													29	73					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768093	13768093	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:13768093T>C	uc001rbt.2	-	6	1788	c.1609A>G	c.(1609-1611)Atg>Gtg	p.M537V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	537					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGACACCATGACACTGATG	0.517000													18	46					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10714628	10714628	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:10714628G>A	uc001aro.3	-	9	2006	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y	CASZ1_uc001arp.1_Silent_p.Y562Y|CASZ1_uc009vmx.2_Silent_p.Y586Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACGTGCTCGTGTACACCTTGT	0.597000													42	91					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88536103	88536103	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:88536103C>T	uc003hqu.3	+	4	2409	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	763	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcaacagcagtgaca	0.512000													10	143					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77750833	77750833	+	Silent	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:77750833C>G	uc002bcr.3	+	2	285	c.84C>G	c.(82-84)acC>acG	p.T28T	HMG20A_uc002bcq.1_Silent_p.T28T|HMG20A_uc002bcs.3_Silent_p.T28T	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	28					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATCTGGCTACCACTGGGTAAG	0.453000													12	25					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37956019	37956019	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:37956019A>G	uc004aax.3	-	3	1655	c.1087T>C	c.(1087-1089)Tcc>Ccc	p.S363P		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	363	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGTGAGGGGGATGACTGCCGC	0.602000													3	74					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90029004	90029004	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:90029004T>C	uc001tbh.3	-	2	612	c.431A>G	c.(430-432)gAg>gGg	p.E144G	ATP2B1_uc001tbg.3_Missense_Mutation_p.E144G	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	144					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.G143G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACCTTCTTCCTCCCCAACAGA	0.383000													3	29					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49737921	49737921	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:49737921A>G	uc003cxh.3	+	13	1213	c.1127A>G	c.(1126-1128)gAt>gGt	p.D376G	RNF123_uc010hky.1_Missense_Mutation_p.D38G|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	376						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GAGGTACAAGATTGCCTCAAG	0.572000													35	56					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123815855	123815855	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:123815855C>G	uc010tap.2	-	6	977	c.977G>C	c.(976-978)gGa>gCa	p.G326A	SBNO1_uc010tao.2_Missense_Mutation_p.G325A|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.G325A|SBNO1_uc001uet.2_Missense_Mutation_p.G326A|SBNO1_uc001uev.2_Missense_Mutation_p.G324A|SBNO1_uc009zxy.1_Missense_Mutation_p.G291A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	326							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCTTCCTTTTCCTACACCGGC	0.408000													28	49					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113913352	113913352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr10:113913352G>A	uc009xxy.2	-	21	2653	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	GPAM_uc001kzp.3_Nonsense_Mutation_p.R815*	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	815					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGTTTTTGTCGGTTGCATTGA	0.383000													24	51					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77268391	77268391	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chrX:77268391T>A	uc004ecx.4	+	9	2348	c.2188T>A	c.(2188-2190)Tac>Aac	p.Y730N		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	730					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CGGAGGCTGGTACTTCTACAT	0.343000													21	13					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20774052	20774052	+	Silent	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:20774052T>C	uc001vwt.3	-	0	102	c.45A>G	c.(43-45)aaA>aaG	p.K15K	TTC5_uc001vwu.3_5'UTR	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	15					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCACCTGCAATTTCTGCAAGA	0.502000											OREG0022552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	50					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51922450	51922450	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:51922450A>C	uc001vfh.2	+	3	862	c.802A>C	c.(802-804)Acc>Ccc	p.T268P	SERPINE3_uc010tgp.2_Missense_Mutation_p.T268P	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	268					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGACAAAGACACCCCCCTGAG	0.612000													6	50					0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065567	145065567	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr8:145065567A>C	uc003zan.1	+	1	342	c.176A>C	c.(175-177)cAt>cCt	p.H59P	GRINA_uc003zao.1_Missense_Mutation_p.H59P|GRINA_uc003zap.1_Missense_Mutation_p.H59P	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	59	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTACCCCCATGGCCCCAGC	0.701000													6	124					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85506767	85506767	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:85506767C>G	uc001dkp.3	-	2	469	c.322G>C	c.(322-324)Gac>Cac	p.D108H	MCOLN3_uc001dkq.3_Intron|MCOLN3_uc001dkr.3_Missense_Mutation_p.D108H|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	108						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TCCATTCGGTCCATATATCCT	0.378000													37	68					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713663	10713663	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:10713663G>A	uc001aro.3	-	10	2771	c.2451C>T	c.(2449-2451)acC>acT	p.T817T	CASZ1_uc001arp.1_Silent_p.T817T|CASZ1_uc009vmx.2_Silent_p.T841T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAGGCTGGGGGTGCCCACAG	0.716000													32	49					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122471457	122471457	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:122471457A>G	uc003efu.2	-	5	945	c.806T>C	c.(805-807)aTa>aCa	p.I269T		NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	269	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CCATGAGTTTATACTGACAGT	0.348000													35	83					0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18909899	18909899	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr22:18909899C>A	uc002zok.4	-	7	1072	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	PRODH_uc002zoj.4_Missense_Mutation_p.G180C|PRODH_uc002zol.4_Missense_Mutation_p.G182C	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	290					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GATGCGATGCCCAACTTTGCG	0.562000													41	74					1.30409e-13	1.4345e-13	1	1	0
SDK1	221935	broad.mit.edu	37	7	4056809	4056809	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:4056809C>T	uc003smx.3	+	16	2566	c.2427C>T	c.(2425-2427)cgC>cgT	p.R809R	SDK1_uc010kso.3_Silent_p.R85R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	809	Fibronectin type-III 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCAGGTACCGCCTGGCTGGCC	0.567000													49	47					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46206860	46206860	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:46206860G>A	uc001cou.3	-	2	704	c.437C>T	c.(436-438)tCt>tTt	p.S146F	IPP_uc001cos.4_Missense_Mutation_p.S146F	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	146						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AATTTGCTCAGAGAACTGAAA	0.413000													31	74					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522701	49522701	+	Silent	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:49522701A>G	uc001rtm.3	-	3	617	c.396T>C	c.(394-396)ctT>ctC	p.L132L	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Silent_p.L97L|TUBA1A_uc010smg.1_3'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AGAAGCCCTGAAGACCGGTGC	0.428000													5	218					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73953542	73953542	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:73953542C>G	uc002jqe.3	-	3	897	c.536G>C	c.(535-537)gGg>gCg	p.G179A	ACOX1_uc010wsq.2_Missense_Mutation_p.G141A|ACOX1_uc010wsr.2_Missense_Mutation_p.G111A|ACOX1_uc002jqf.3_Missense_Mutation_p.G179A	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	179					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCACTTACGCCCACCAGGCCA	0.443000													59	67					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492877	77492877	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:77492877A>G	uc001xsy.3	-	0	2158	c.1259T>C	c.(1258-1260)tTc>tCc	p.F420S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	420						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTACTCAATGAACAGCTTCAA	0.592000													27	64					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49647695	49647695	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr8:49647695G>A	uc003xqo.2	-	0	176	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	EFCAB1_uc003xqn.3_Non-coding_Transcript|EFCAB1_uc011ldj.1_Silent_p.L6L|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	6							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGCTTCTGCAGTTTCTTGCGG	0.627000													17	29					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88362905	88362905	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr6:88362905A>T	uc003pmg.3	+	13	1556	c.1454A>T	c.(1453-1455)aAc>aTc	p.N485I	ORC3_uc011dzl.2_Missense_Mutation_p.N485I|ORC3_uc011dzm.2_Missense_Mutation_p.N485I|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.N485I|ORC3_uc011dzp.2_Missense_Mutation_p.N342I|ORC3_uc011dzo.2_Missense_Mutation_p.N342I	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	485					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TATTGTGAAAACCACCTTGGC	0.418000													20	47					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1977074	1977074	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:1977074G>C	uc003gdz.4	+	19	3744	c.3568G>C	c.(3568-3570)Gtc>Ctc	p.V1190L	WHSC1_uc003geb.4_Missense_Mutation_p.V1190L|WHSC1_uc003gec.4_Missense_Mutation_p.V1190L|WHSC1_uc003ged.4_Missense_Mutation_p.V1190L|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.V409L|WHSC1_uc011bvh.2_Missense_Mutation_p.V251L|WHSC1_uc010icf.3_Missense_Mutation_p.V538L	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1190	Post-SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGAAAAAACGGTCTGCCGGTG	0.532000			T	IGH@	MM								22	76					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118490	118490	+	RNA	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chrGL000205.1:118490G>T	uc002kgk.4	+	0		c.1868G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGCAGAGAATGCCGGAAGGTA	0.463000													3	18					0.115264	0.116225	1	1	0
TPP2	7174	broad.mit.edu	37	13	103271166	103271166	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:103271166G>T	uc001vpi.4	+	4	693	c.590G>T	c.(589-591)tGc>tTc	p.C197F		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	197					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTATATGACTGCTTGGTATGG	0.358000													25	39					1.05477e-32	1.2155e-32	1	1	0
PER3	8863	broad.mit.edu	37	1	7854051	7854051	+	Silent	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:7854051T>C	uc001aop.3	+	4	851	c.627T>C	c.(625-627)ccT>ccC	p.P209P	PER3_uc009vmg.1_Silent_p.P209P|PER3_uc009vmh.1_Silent_p.P209P|PER3_uc001aoo.3_Silent_p.P208P|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.P208P	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTGAAACCTTTTTTCTGCA	0.443000													3	65					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882148	108882148	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:108882148G>T	uc001vqq.3	+	1	847	c.582G>T	c.(580-582)ttG>ttT	p.L194F	ABHD13_uc021rml.1_Missense_Mutation_p.L194F	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	194						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCGTTCCTTGGGTGGAGCAG	0.403000													22	56					2.39556e-15	2.68392e-15	1	1	0
METTL21B	25895	broad.mit.edu	37	12	58166555	58166555	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:58166555C>T	uc001sqg.3	+	0	173	c.48C>T	c.(46-48)ttC>ttT	p.F16F	METTL1_uc010ssd.2_5'Flank|METTL1_uc009zqc.3_5'Flank|METTL21B_uc001sqf.3_Silent_p.F16F|METTL21B_uc009zqd.3_Non-coding_Transcript	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA.	16						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						AATCGGTGTTCCCGCGGGAGG	0.647000													33	45					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27948314	27948314	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:27948314G>A	uc002hel.2	-	0	128	c.126C>T	c.(124-126)gtC>gtT	p.V42V		NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	42					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ATTTGGGGTTGACGGCACAGA	0.592000													38	59					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418423	2418423	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:2418423G>A	uc001aji.1	+	5	1165	c.891G>A	c.(889-891)ggG>ggA	p.G297G	PLCH2_uc010nyz.2_Silent_p.G86G|PLCH2_uc009vle.1_Silent_p.G86G|PLCH2_uc001ajj.1_Silent_p.G86G|PLCH2_uc001ajk.1_Silent_p.G86G	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	298					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGAGTAAGGGGCTGCTGGGCA	0.632000													10	31					0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95575877	95575877	+	Splice_Site	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:95575877G>C	uc011lua.1	+	2	261	c.207_splice	c.e2-1	p.R69_splice	ANKRD19P_uc004ass.2_Splice_Site|ANKRD19P_uc004asr.4_Splice_Site					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		CGCCCTCCTAGGACTGTTCTA	0.448000													20	36					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225600280	225600280	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:225600280A>C	uc001hoy.3	-	7	1134	c.960T>G	c.(958-960)caT>caG	p.H320Q	LBR_uc001hoz.3_Missense_Mutation_p.H320Q	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	320					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity	p.H320Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TGTACACGTAATGAAACTCTA	0.413000													78	244					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737307	56737307	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:56737307A>C	uc003hbe.1	+	6	1030	c.872A>C	c.(871-873)cAg>cCg	p.Q291P	EXOC1_uc003hbf.1_Missense_Mutation_p.Q291P|EXOC1_uc003hbg.1_Missense_Mutation_p.Q291P	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	291					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGGCCCTTCAGGAAGGAGAT	0.453000													14	30					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18731076	18731076	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:18731076C>A	uc009yht.2	-	17	3046	c.2856G>T	c.(2854-2856)aaG>aaT	p.K952N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	851										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGATGGGGATCTTTGTGCACT	0.577000													28	55					5.09552e-08	5.36137e-08	1	1	0
PABPC4L	132430	broad.mit.edu	37	4	135121148	135121148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:135121148C>A	uc010ioe.3	-	1	1284	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*		NM_001114734	NP_001108206			Homo sapiens poly(A) binding protein, cytoplasmic 4-like (PABPC4L), mRNA.											breast(1)|endometrium(2)	3						GTAGCATCCTCAGGAGAGGAG	0.458000													27	66					0.000117367	0.000122426	1	1	0
HEATR2	54919	broad.mit.edu	37	7	769345	769345	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:769345A>C	uc010krz.1	+	1	661	c.641A>C	c.(640-642)cAg>cCg	p.Q214P	PRKAR1B_uc021zyj.1_5'Flank|PRKAR1B_uc021zyk.1_5'Flank|PRKAR1B_uc003siw.2_5'Flank|HEATR2_uc003siz.2_Intron	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	214							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CCCCTGATGCAGACCATCTCC	0.622000													19	59					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80047603	80047603	+	Splice_Site	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:80047603C>G	uc002kdu.3	-	12	1988	c.1871_splice	c.e12-1	p.G624_splice	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	624	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGGACAAGCCTATGGCAGAG	0.652000													12	56					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30019082	30019082	+	Silent	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:30019082T>G	uc001zcr.3	-	16	2689	c.2214A>C	c.(2212-2214)acA>acC	p.T738T	TJP1_uc010azl.3_Silent_p.T726T|TJP1_uc001zcq.3_Silent_p.T742T|TJP1_uc001zcs.3_Silent_p.T738T	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	738	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCATTCTCATTGTTTTTACTC	0.363000													23	73					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34219046	34219046	+	Missense_Mutation	SNP	C	C	T	rs140971908	byFrequency	TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:34219046C>T	uc001mvl.2	-	2	1495	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	171							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CAGGGGGTGACGCCCCTGCAT	0.652000													7	6					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605581	70605581	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:70605581G>A	uc002ezf.3	+	25	3730	c.3519G>A	c.(3517-3519)gtG>gtA	p.V1173V		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1173					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTTAGAATGTGATTGATGGAG	0.428000													23	63					0	0	1	0	0
SNX6	58533	broad.mit.edu	37	14	35062293	35062293	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:35062293C>A	uc001wsf.1	-	7	720	c.712G>T	c.(712-714)Gat>Tat	p.D238Y	SNX6_uc001wse.1_Missense_Mutation_p.D110Y|SNX6_uc010tpm.1_Missense_Mutation_p.D114Y|SNX6_uc010amm.1_Missense_Mutation_p.D114Y	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	226					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GCAGATGCATCCTTAACTCGG	0.299000													24	81					7.26314e-15	8.06275e-15	1	1	0
ZNF45	7596	broad.mit.edu	37	19	44419046	44419046	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:44419046A>C	uc002oxu.2	-	3	641	c.542T>G	c.(541-543)aTt>aGt	p.I181S	ZNF45_uc002oxw.2_Missense_Mutation_p.I181S	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	181					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CCTTTGGTTAATTTGAAGATG	0.443000													23	45					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11019856	11019856	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:11019856G>A	uc002mpz.3	+	3	657	c.531G>A	c.(529-531)ctG>ctA	p.L177L	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	177					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCGCCATCCTGCAAAACCACA	0.517000													15	33					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729061	37729061	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr8:37729061G>C	uc003xkm.2	-	3	3315	c.3259C>G	c.(3259-3261)Cct>Gct	p.P1087A	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P416A|RAB11FIP1_uc003xko.1_Missense_Mutation_p.P416A|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1087					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GATGTGCCAGGAGGCGGGCTT	0.552000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	34					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23380289	23380289	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:23380289G>A	uc001bgi.2	+	3	836	c.687G>A	c.(685-687)ctG>ctA	p.L229L	KDM1A_uc001bgj.2_Silent_p.L249L	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	229	SWIRM.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGATTCAGCTGACATTTGAGG	0.323000													41	73					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40134339	40134339	+	Silent	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:40134339T>C	uc003thh.4	+	13	4581	c.4299T>C	c.(4297-4299)ccT>ccC	p.P1433P	CDK13_uc003thi.4_Silent_p.P1373P|CDK13_uc003thj.3_Silent_p.P484P|CDK13_uc003thk.3_Silent_p.P366P	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1433					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCCATGGTCCTATTGCAGTCC	0.463000													31	95					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908235	166908235	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:166908235C>A	uc002udo.4	-	7	1185	c.958G>T	c.(958-960)Gat>Tat	p.D320Y	SCN1A_uc010fpk.3_Missense_Mutation_p.D320Y|SCN1A_uc021vsb.1_Missense_Mutation_p.D320Y	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	320						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTACTTGAATCTTGAATATAT	0.299000													34	61					4.11147e-13	4.48188e-13	1	1	0
CDH4	1002	broad.mit.edu	37	20	60427908	60427908	+	Missense_Mutation	SNP	C	C	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr20:60427908C>A	uc002ybn.2	+	5	919	c.831C>A	c.(829-831)ttC>ttA	p.F277L	CDH4_uc002ybr.2_Missense_Mutation_p.F240L|CDH4_uc002ybp.2_Missense_Mutation_p.F203L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	277	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCTGAGTTCATCAACCAGG	0.582000													24	56					4.02929e-09	4.2767e-09	1	1	0
PCDP1	200373	broad.mit.edu	37	2	120362785	120362785	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:120362785A>C	uc002tmb.3	+	11	1307	c.195A>C	c.(193-195)aaA>aaC	p.K65N	PCDP1_uc010yyq.2_Missense_Mutation_p.K195N	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	351						cilium	calmodulin binding					Colorectal(110;0.196)					AAATTTCAAAAACGAGACAGA	0.383000													64	172					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78758793	78758793	+	Silent	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:78758793A>T	uc002bdr.2	+	4	753	c.591A>T	c.(589-591)acA>acT	p.T197T	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Silent_p.T197T	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	197							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTGAGAATACACCCATCCTGT	0.413000													4	68					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982346	130982346	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:130982346G>A	uc022bob.1	+	4	756	c.669G>A	c.(667-669)aaG>aaA	p.K223K	DNM1_uc022bnx.1_Silent_p.K223K|DNM1_uc022bny.1_Silent_p.K223K|DNM1_uc022bnz.1_Silent_p.K223K|DNM1_uc022boa.1_Silent_p.K223K	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	223					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGGAGAACAAGCTGCTCCCCC	0.647000													38	94					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445524	144445524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:144445524C>T	uc003ijg.3	+	3	886	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	142					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TAACAGTTACCGACACCGTAG	0.383000													4	244					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920296	219920296	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:219920296A>G	uc002vjo.2	-	2	918	c.869T>C	c.(868-870)tTc>tCc	p.F290S		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	290					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCCCGGAAGCGGGCTGC	0.667000													15	34					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057871	9057871	+	Missense_Mutation	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:9057871G>A	uc002mkp.3	-	2	29779	c.29575C>T	c.(29575-29577)Cct>Tct	p.P9859S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9861	Ser-rich.|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						GAGAAGGCAGGATTTGATGTG	0.478000													34	80					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509637	28509637	+	Missense_Mutation	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:28509637C>G	uc002dqb.2	+	2	3224	c.3191C>G	c.(3190-3192)cCg>cGg	p.P1064R	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.P593R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1055					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GATGGGACCCCGGTGCCAGCC	0.672000													9	68					0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52657298	52657298	+	Splice_Site	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chrX:52657298T>C	uc011moa.1	+	5		c.565_splice	c.e5-1		SSX8_uc011mob.1_Splice_Site					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TCTCTTCCAGTTGAACGTCCT	0.438000													141	96					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239186362	239186362	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:239186362C>T	uc002vyc.3	-	1	453	c.216G>A	c.(214-216)ccG>ccA	p.P72P	PER2_uc010znv.1_Silent_p.P72P|PER2_uc010znw.1_Silent_p.P72P|PER2_uc010fyx.1_Silent_p.P72P	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	72					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCGGGCATCCGGTGGCTCCA	0.577000													3	19					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23294705	23294705	+	Silent	SNP	G	G	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr8:23294705G>A	uc003xdl.3	-	9	1388	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D	ENTPD4_uc011kzu.1_Silent_p.D364D|ENTPD4_uc003xdm.3_Silent_p.D364D|ENTPD4_uc011kzv.1_Silent_p.D372D	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	372					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CATCTTTAATGTCTAGGGGTA	0.458000													29	85					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941044	52941044	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:52941044T>A	uc002pzk.3	+	3	437	c.370T>A	c.(370-372)Tta>Ata	p.L124I	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.L111I	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCAACATGGATTAACTCTTCA	0.353000													77	150					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179076969	179076969	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:179076969G>T	uc001gmj.4	-	11	3720	c.3433C>A	c.(3433-3435)Ctc>Atc	p.L1145I	ABL2_uc010pnf.2_Missense_Mutation_p.L1042I|ABL2_uc010png.2_Missense_Mutation_p.L1021I|ABL2_uc010pnh.2_Missense_Mutation_p.L1124I|ABL2_uc001gmg.4_Missense_Mutation_p.L1027I|ABL2_uc001gmi.4_Missense_Mutation_p.L1130I|ABL2_uc010pne.2_Missense_Mutation_p.L1006I	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	1145	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TGCAGGCTGAGTTCCAGTTTG	0.507000			T	ETV6	AML								31	69					3.93418e-24	4.49091e-24	1	1	0
TRPV3	162514	broad.mit.edu	37	17	3438998	3438998	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:3438998G>T	uc002fvr.2	-	6	975	c.653C>A	c.(652-654)gCg>gAg	p.A218E	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.A202E|TRPV3_uc010vri.1_Missense_Mutation_p.A173E|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.A218E|TRPV3_uc010vrj.1_Missense_Mutation_p.A202E|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.A202E|TRPV3_uc002fvu.3_Missense_Mutation_p.A218E	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	218						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGTTCAGCGCCGTCTGCCC	0.736000													4	19					0.150653	0.150653	1	1	0
TRIM66	9866	broad.mit.edu	37	11	8639493	8639493	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:8639493A>G	uc010rbo.2	-	19	3844	c.3649T>C	c.(3649-3651)Tga>Cga	p.*1217R		NM_014818	NP_055633	O15016	TRI66_HUMAN	Homo sapiens tripartite motif containing 66 (TRIM66), mRNA.	0						aggresome|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						TTTGGCTCTCACACCTGAGAG	0.438000													12	37					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705695	126705695	+	Splice_Site	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr5:126705695G>T	uc003kuh.4	+	6	774	c.412_splice	c.e6+1	p.A138_splice	MEGF10_uc010jdc.1_Splice_Site_p.A138_splice|MEGF10_uc010jdd.1_Splice_Site_p.A138_splice|MEGF10_uc003kui.4_Splice_Site_p.A138_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	138	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCCAGTGGTAAGTTTCCA	0.537000													11	27					2.68362e-12	2.87361e-12	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132207851	132207851	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:132207851T>C	uc003eor.3	+	30	3519	c.3454T>C	c.(3454-3456)Ttc>Ctc	p.F1152L		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1152							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAACAGGCTTTCAAGTCAGA	0.333000													12	24					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628289	71628289	+	Silent	SNP	G	G	A	rs140133619		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:71628289G>A	uc004agy.3	-	0	751	c.720C>T	c.(718-720)taC>taT	p.Y240Y		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	240	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.Y240Y(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCTGGTCGGCGTAGAAGGGTG	0.602000													26	50					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899840	53899840	+	Missense_Mutation	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:53899840T>C	uc001sdo.3	+	8	1497	c.1009T>C	c.(1009-1011)Tgt>Cgt	p.C337R	TARBP2_uc001sdp.3_Missense_Mutation_p.C316R|TARBP2_uc001sdr.3_Missense_Mutation_p.C193R|TARBP2_uc001sdt.3_Missense_Mutation_p.C316R	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	337	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGCCACTGTGTGTCATGGCTC	0.632000													15	45					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35731352	35731352	+	Missense_Mutation	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:35731352A>G	uc021rid.1	+	20	3323	c.2789A>G	c.(2788-2790)tAt>tGt	p.Y930C	NBEA_uc021ric.1_Missense_Mutation_p.Y930C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	930						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAATAAAATATGAATGGGGA	0.383000													14	43					0	0	1	0	0
C17orf39	79018	broad.mit.edu	37	17	17962263	17962263	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:17962263T>A	uc002gsg.1	+	3	856	c.688T>A	c.(688-690)Tac>Aac	p.Y230N		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	230								p.Y230Y(1)		large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					GAATGGAGACTACGTCTTCAT	0.458000													27	77					0	0	1	0	0
C10orf47	254427	broad.mit.edu	37	10	11911626	11911626	+	Missense_Mutation	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr10:11911626G>C	uc001ikx.3	+	3	683	c.529G>C	c.(529-531)Gcc>Ccc	p.A177P	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	177	Pro-rich.									central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GGAGCTGCGCGCCCCCTCCCC	0.692000													33	58					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161158	151161158	+	Missense_Mutation	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr6:151161158C>T	uc011eem.1	+	15	3549	c.3461C>T	c.(3460-3462)gCa>gTa	p.A1154V	PLEKHG1_uc003qny.1_Missense_Mutation_p.A1095V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1095					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGAGAGTTAGCAGATTTCTGT	0.488000													44	87					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74838062	74838062	+	Silent	SNP	A	A	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:74838062A>G	uc004air.3	+	6	842	c.633A>G	c.(631-633)acA>acG	p.T211T	GDA_uc011lse.2_Silent_p.T137T|GDA_uc004aiq.3_Silent_p.T211T|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Silent_p.T137T|GDA_uc004ais.3_Intron|GDA_uc004ait.1_Silent_p.T137T	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	211					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.V210M(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCATAGTGACACCACGTTTTT	0.388000													16	56					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033152	20033152	+	Silent	SNP	G	G	A	rs140622884		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr20:20033152G>A	uc002wrs.3	-	1	350	c.318C>T	c.(316-318)gcC>gcT	p.A106A	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.A94A	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	106					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCGTGACGGAGGCGGCACCGT	0.607000													29	79					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118479556	118479556	+	Silent	SNP	T	T	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr5:118479556T>C	uc010jcl.1	+	13	2578	c.2397T>C	c.(2395-2397)ttT>ttC	p.F799F	DMXL1_uc003ksd.2_Silent_p.F799F|DMXL1_uc021ycw.1_Silent_p.F626F	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	799										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTGAAGTCTTTAACATCGTCA	0.299000													83	160					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019017	75019017	+	Silent	SNP	C	C	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr14:75019017C>G	uc001xqa.3	-	5	1659	c.1272G>C	c.(1270-1272)ggG>ggC	p.G424G		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	424	EGF-like 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGAACTTCCCGGTGGAGT	0.652000													22	42					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57136553	57136553	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr3:57136553C>T	uc003dil.3	-	9	1022	c.933G>A	c.(931-933)tcG>tcA	p.S311S	IL17RD_uc003dik.3_Silent_p.S287S|IL17RD_uc010hna.3_Silent_p.S167S|IL17RD_uc011bex.1_Silent_p.S167S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	311						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TCGCGAATGCCGATATGACTA	0.547000													30	85					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39205336	39205336	+	Missense_Mutation	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:39205336A>C	uc003gtv.3	+	6	751	c.597A>C	c.(595-597)gaA>gaC	p.E199D	WDR19_uc010ifl.1_Missense_Mutation_p.E16D|WDR19_uc003gtu.1_Missense_Mutation_p.E199D|WDR19_uc011byi.2_Missense_Mutation_p.E39D	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	199					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTGCTGCTGAAAGCATGGTAA	0.353000													18	38					0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151640	131151640	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:131151640G>T	uc011may.1	+	3	351	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TGCTGCTTCAGTGGGAAAGCG	0.617000													4	73					0.00909568	0.00932693	1	1	0
TESK2	10420	broad.mit.edu	37	1	45812448	45812448	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:45812448A>T	uc001cns.1	-	8	1199	c.796T>A	c.(796-798)Ttc>Atc	p.F266I	TESK2_uc009vxr.1_Intron|TESK2_uc010olo.1_Missense_Mutation_p.F183I|TESK2_uc009vxs.1_Missense_Mutation_p.F58I	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	266	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGCCCGAAATTCTGTGGA	0.502000													37	59					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	441958	441958	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr9:441958C>T	uc003zgf.2	+	41	5551	c.5439C>T	c.(5437-5439)gtC>gtT	p.V1813V	DOCK8_uc022bcu.1_Silent_p.V1745V|DOCK8_uc010mgv.3_Silent_p.V1713V|DOCK8_uc010mgu.3_Silent_p.V1115V|DOCK8_uc003zgk.2_Silent_p.V1271V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1813	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGGAGTTTGTCTACAAAGAGC	0.403000													31	45					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200378264	200378264	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:200378264C>T	uc001gve.3	-	1	677	c.570G>A	c.(568-570)caG>caA	p.Q190Q	EU250746_uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Silent_p.Q190Q|ZNF281_uc001gvg.1_Silent_p.Q154Q|ZNF281_uc021phb.1_Silent_p.Q190Q	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	190					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CACGGTGGTGCTGGGCTGGTT	0.562000													30	45					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108882149	108882149	+	Missense_Mutation	SNP	G	G	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr13:108882149G>T	uc001vqq.3	+	1	848	c.583G>T	c.(583-585)Ggt>Tgt	p.G195C	ABHD13_uc021rml.1_Missense_Mutation_p.G195C	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	195						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCGTTCCTTGGGTGGAGCAGT	0.403000													22	56					2.39556e-15	2.68392e-15	1	1	0
GMCL1	64395	broad.mit.edu	37	2	70096993	70096993	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:70096993T>G	uc002sfu.3	+	11	1568	c.1361T>G	c.(1360-1362)tTt>tGt	p.F454C		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	454					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						AGCATAGCATTTAGGTAGGAT	0.398000													16	33					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730877	30730877	+	Silent	SNP	C	C	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr20:30730877C>T	uc002wxj.2	+	5	856	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TM9SF4_uc010ztr.1_Silent_p.F133F|TM9SF4_uc010zts.1_Silent_p.F114F|TM9SF4_uc002wxk.2_Silent_p.F190F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	207						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCGTCCGCTTCGAGGTGATTC	0.597000													15	47					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169315621	169315621	+	Missense_Mutation	SNP	T	T	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr4:169315621T>A	uc021xuh.1	-	26	3915	c.3805A>T	c.(3805-3807)Att>Ttt	p.I1269F	DDX60L_uc003irq.4_Missense_Mutation_p.I1269F|DDX60L_uc003irr.1_Missense_Mutation_p.I1270F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1269	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTACCCTAATAAGCCCTTTT	0.323000													9	31					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53825014	53825014	+	Missense_Mutation	SNP	A	A	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:53825014A>T	uc001scx.2	+	10	1559	c.1479A>T	c.(1477-1479)gaA>gaT	p.E493D	AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Missense_Mutation_p.E398D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	493	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CAGACCCAGAAGCACGGCTGA	0.607000													18	41					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945145	16945145	+	RNA	SNP	A	A	G	rs151112718		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:16945145A>G	uc010ocf.2	-	3		c.1012T>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		tgttaaaaGCAGACAATACTG	0.274000													3	8					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660955	117660955	+	Missense_Mutation	SNP	T	T	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:117660955T>G	uc001egz.2	-	1	1511	c.923A>C	c.(922-924)aAt>aCt	p.N308T	TRIM45_uc009whe.2_Missense_Mutation_p.N308T	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	308						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTGCAGGGAATTTTCCTTCTG	0.567000													31	54					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220092774	220092774	+	Splice_Site	SNP	A	A	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr2:220092774A>C	uc002vke.1	-	3	158	c.-28_splice	c.e3-1		ATG9A_uc002vkd.1_5'Flank|ATG9A_uc002vkf.1_Splice_Site|ANKZF1_uc010zkv.1_5'Flank|ANKZF1_uc010zkw.1_5'Flank|ANKZF1_uc002vkg.3_5'Flank|ANKZF1_uc002vkh.3_5'Flank|ANKZF1_uc002vki.3_5'Flank|ANKZF1_uc002vkj.1_5'Flank	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.						autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGACCACCTGCCAATA	0.577000													4	56					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091332	26091332	+	Splice_Site	SNP	G	G	C			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr6:26091332G>C	uc003nfx.1	+	2	500	c.340_splice	c.e2+1	p.E114_splice	HFE_uc003nfy.1_Splice_Site_p.E91_splice|HFE_uc010jqe.1_Splice_Site_p.E114_splice|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Splice_Site_p.E114_splice|HFE_uc003ngb.1_Splice_Site_p.V114_splice|HFE_uc003ngc.1_Splice_Site_p.V114_splice|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	114	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACAGCAAGGGTATGTGGAG	0.488000									Hemochromatosis				20	38					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675436	43675439	+	Frame_Shift_Del	DEL	TTGA	TTGA	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:43675436_43675439delTTGA	uc021omk.1	+	10	1924_1927	c.1778_1781delTTGA	c.(1777-1782)tttgatfs	p.F593fs	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Frame_Shift_Del_p.F582fs|WDR65_uc001ciq.2_Frame_Shift_Del_p.F593fs|WDR65_uc001cip.2_Frame_Shift_Del_p.F593fs	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	593										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATATCGGCGTTTGATGTCACCTAC	0.574													19	48	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150900339	150900347	+	In_Frame_Del	DEL	AGATGGATT	AGATGGATT	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:150900339_150900347delAGATGGATT	uc001evu.2	+	1	339_347	c.149_157delAGATGGATT	c.(148-159)aagatggattgt>agt	p.50_53KMDC>S	SETDB1_uc001evw.4_In_Frame_Del_p.50_53KMDC>S|SETDB1_uc009wmf.2_In_Frame_Del_p.50_53KMDC>S|SETDB1_uc001evv.2_In_Frame_Del_p.50_53KMDC>S|SETDB1_uc009wmg.2_In_Frame_Del_p.50_53KMDC>S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAACTGGAGAAGATGGATTGTGTACAGCA	0.474													59	161	---	---	---	---					
OBSCN	84033	broad.mit.edu	37	1	228437723	228437724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr1:228437723_228437724insG	uc009xez.1	+	13	4135_4136	c.4091_4092insG	c.(4090-4092)gcgfs	p.A1364fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A1364fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1364	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCCGAGGCGGGGGCCATTG	0.624													7	248	---	---	---	---					
NACAD	23148	broad.mit.edu	37	7	45125173	45125173	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:45125173delA	uc003tmt.3	-	1	606	c.606delT	c.(604-606)gctfs	p.A202fs		NM_001146334	NP_001139806	O15069	NACAD_HUMAN	Homo sapiens NAC alpha domain containing (NACAD), mRNA.	202					protein transport	cytoplasm|nucleus				breast(1)|endometrium(2)|skin(2)	5						CCCGCAGCTCAGCCTCTGAGT	0.667													25	84	---	---	---	---					
PIK3CG	5294	broad.mit.edu	37	7	106508582	106508582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr7:106508582delC	uc003vdv.4	+	1	661	c.576delC	c.(574-576)gacfs	p.D192fs	PIK3CG_uc003vdu.3_Frame_Shift_Del_p.D192fs|PIK3CG_uc003vdw.3_Frame_Shift_Del_p.D192fs	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	192					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCAGCCGCGACCCCAAGCTCT	0.617													22	60	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6652589	6652589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr11:6652589delT	uc001mem.1	-	7	4126	c.3725delA	c.(3724-3726)aagfs	p.K1242fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1242	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGGATCCTTCGCCTGCAG	0.552													21	55	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573309	+	RNA	DEL	G	G	-	rs66804813		TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr12:9573309delG	uc021qut.1	-	10		c.2089delC			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.																		gagggagggagCCCCCATGGA	0.582													8	18	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28929354	28929355	+	RNA	INS	-	-	A			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr15:28929354_28929355insA	uc010azc.3	+	13		c.2059_2060insA								Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		TTCAGAGATTCTCATTGGGAAG	0.421													2	4	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3304171	3304171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr16:3304171delT	uc002cun.1	-	1	937	c.897delA	c.(895-897)gaafs	p.E299fs	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	299					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	tgacCGAATGTTCTGGATTTC	0.562													14	48	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:7801857_7801859delAAG	uc002gjd.2	+	12	2274_2276	c.2272_2274delAAG	c.(2272-2274)aagdel	p.K762del	CHD3_uc002gje.2_In_Frame_Del_p.K703del|CHD3_uc002gjf.2_In_Frame_Del_p.K703del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													8	189	---	---	---	---					
TOP2A	7153	broad.mit.edu	37	17	38562843	38562844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:38562843_38562844insT	uc002huq.3	-	14	1994_1995	c.1835_1836insA	c.(1834-1836)tatfs	p.Y612fs	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	612					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACCTTTGTAATATTTGACTTT	0.317													31	40	---	---	---	---					
AOC3	8639	broad.mit.edu	37	17	41003596	41003597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:41003596_41003597insG	uc002ibv.3	+	0	396_397	c.236_237insG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658													9	96	---	---	---	---					
NBR2	10230	broad.mit.edu	37	17	41297124	41297124	+	Splice_Site	DEL	A	A	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:41297124delA	uc002idg.3	+	5		c.1366_splice	c.e5+1		BRCA1_uc010whp.2_Intron|NBR2_uc002idh.3_Intron					Homo sapiens neighbor of BRCA1 gene 2 (non-protein coding) (NBR2), non-coding RNA.																		ACAAAAGTGCAAAAAAAGGGA	0.438													7	111	---	---	---	---					
TEX14	56155	broad.mit.edu	37	17	56676917	56676918	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr17:56676917_56676918delGA	uc010dcz.2	-	13	1924_1925	c.1806_1807delTC	c.(1804-1809)gctcctfs	p.A602fs	TEX14_uc002iwr.2_Frame_Shift_Del_p.A596fs|TEX14_uc002iws.2_Frame_Shift_Del_p.A596fs|TEX14_uc010dda.2_Frame_Shift_Del_p.A376fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	602						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGGCAAGGAGCATCTTGAT	0.530													35	47	---	---	---	---					
ANKRD29	147463	broad.mit.edu	37	18	21214112	21214112	+	Splice_Site	DEL	T	T	-			TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr18:21214112delT	uc002kun.3	-	5	486	c.331_splice	c.e5-1	p.D111_splice	ANKRD29_uc002kuo.3_Splice_Site_p.D111_splice	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	111										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGTGCCCCCGTCCTATGGACA	0.498													16	38	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40366441	40366444	+	Frame_Shift_Del	DEL	CGCA	CGCA	-	rs145808007	byFrequency	TCGA-IZ-A6M8-01A-11D-A31X-10	TCGA-IZ-A6M8-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfdbda6-c66f-4c67-8b66-e44364185d82	63f41eeb-2753-4768-a87a-f24b16256074	g.chr19:40366441_40366444delCGCA	uc002omp.4	-	29	13798_13801	c.13790_13793delTGCG	c.(13789-13794)gtgcgcfs	p.V4597fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4597	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGCGCAGGCGCACGAAGCTGTC	0.672													8	85	---	---	---	---					
