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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYO15A	51168	broad.mit.edu	37	17	18023310	18023310	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:18023310A>G	uc021trm.1	+	0	1415	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	MYO15A_uc021trl.1_Missense_Mutation_p.Y399C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	399	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGGTGCCCTATTTTTACCCG	0.622000														28			10		0	0	0.000151284	0	0
CHD7	55636	broad.mit.edu	37	8	61765709	61765709	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:61765709C>T	uc003xue.3	+	30	6917	c.6425C>T	c.(6424-6426)tCc>tTc	p.S2142F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2142					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463000														2			28		0	0	0.000279167	0	0
MAP3K5	4217	broad.mit.edu	37	6	136944008	136944008	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:136944008C>T	uc003qhc.3	-	14	2489	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	MAP3K5_uc011edj.2_Intron|MAP3K5_uc011edk.1_Missense_Mutation_p.E555K	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	710	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTGGGATTTCCTTAATAGCA	0.393000														26			89		0	0	0.000147903	0	0
DNAJB12	54788	broad.mit.edu	37	10	74104769	74104769	+	Missense_Mutation	SNP	C	A	A	rs141686379	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:74104769C>A	uc001jsz.2	-	1	502	c.352G>T	c.(352-354)Ggt>Tgt	p.G118C	DNAJB12_uc001jta.2_Missense_Mutation_p.G118C|DNAJB12_uc010qjv.1_Missense_Mutation_p.G118C	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA.	84	J.				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CCAGCTTCACCGTTGGCCGAG	0.612000														144			8		0.000442599	0.00721301	0.000442599	1	0
S100A13	6284	broad.mit.edu	37	1	153598826	153598826	+	Silent	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:153598826C>A	uc001fcf.4	-	1	297	c.123G>T	c.(121-123)ctG>ctT	p.L41L	S100A13_uc001fcg.3_Silent_p.L41L|S100A13_uc009woh.3_Silent_p.L41L|S100A13_uc001fch.3_Silent_p.L41L|S100A13_uc001fci.3_Silent_p.L41L|S100A13_uc001fcj.3_Silent_p.L41L|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_005970	Q99584	S10AD_HUMAN	Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA.	41	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCTGGGTAACCAGCTCTTTGA	0.522000														279			10		3.86212e-05	0.000655097	3.86212e-05	1	0
DCHS1	8642	broad.mit.edu	37	11	6643302	6643302	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:6643302G>A	uc001mem.1	-	20	10006	c.9605C>T	c.(9604-9606)cCa>cTa	p.P3202L	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank|DCHS1_uc021qdb.1_Missense_Mutation_p.P157L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	3202					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)		GATGAGGGGTGGTGGGTCGAT	0.632000														18			4		0	0	0.00024832	0	0
CREB5	9586	broad.mit.edu	37	7	28848877	28848877	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:28848877G>A	uc003szq.3	+	8	1490	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CREB5_uc003szo.3_Missense_Mutation_p.R334Q|CREB5_uc003szr.3_Missense_Mutation_p.R360Q|CREB5_uc003szs.3_Missense_Mutation_p.R228Q	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	367					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R367G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGGCGCCGGCGAAGGGTGGTA	0.632000														105			92		0	0	0.000147903	0	0
TCF20	6942	broad.mit.edu	37	22	42608868	42608868	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:42608868G>A	uc003bcj.1	-	0	2578	c.2444C>T	c.(2443-2445)cCc>cTc	p.P815L	TCF20_uc003bck.1_Missense_Mutation_p.P815L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCCCAGTGGGGATTTTCTAA	0.443000														29			23		0	0	0.000375601	0	0
UNC5C	8633	broad.mit.edu	37	4	96171773	96171773	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:96171773G>A	uc003hto.3	-	4	993	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	UNC5C_uc010ilc.2_Missense_Mutation_p.R214W|UNC5C_uc003htq.3_Missense_Mutation_p.R214W	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	214	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.R214L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TAAAAATTCCGATCTTCAACG	0.383000														52			46		0	0	0.000147903	0	0
SRSF7	6432	broad.mit.edu	37	2	38977228	38977228	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:38977228G>A	uc002rqz.3	-	1	375	c.137C>T	c.(136-138)cCt>cTt	p.P46L	SRSF7_uc010ynp.2_Missense_Mutation_p.P46L|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	46	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAATCCTGGAGGATTTCTCGC	0.428000														52			43		0	0	0.000437636	0	0
DHX36	170506	broad.mit.edu	37	3	154027597	154027597	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:154027597T>G	uc003ezy.4	-	4	739	c.658A>C	c.(658-660)Att>Ctt	p.I220L	DHX36_uc010hvq.3_Missense_Mutation_p.I220L|DHX36_uc003ezz.4_Missense_Mutation_p.I220L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	220	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGTTATCAATTAAATTTACC	0.308000														10			9		0	0	3.86212e-05	0	0
ABTB2	25841	broad.mit.edu	37	11	34184209	34184209	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:34184209C>T	uc001mvl.2	-	9	2557	c.2132G>A	c.(2131-2133)cGg>cAg	p.R711Q		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	525							DNA binding	p.H710R(1)		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)				GGTGCGGGTCCGGCTCAGCCG	0.672000														19			12		0	0	6.40141e-05	0	0
TMEM143	55260	broad.mit.edu	37	19	48848429	48848429	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:48848429C>T	uc002pix.1	-	3	561	c.552G>A	c.(550-552)caG>caA	p.Q184Q	TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc002piy.1_Silent_p.Q149Q|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	184						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGACCTCATCCTGAGGGTGGT	0.637000														15			15		0	0	7.07596e-05	0	0
GNA14	9630	broad.mit.edu	37	9	80043925	80043925	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:80043925C>T	uc004aku.3	-	4	1144	c.621G>A	c.(619-621)tcG>tcA	p.S207S		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	207					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCCGTCTTTCCGATCGTTGGC	0.453000														88			62		0	0	0.000147903	0	0
SYTL5	94122	broad.mit.edu	37	X	37979716	37979716	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:37979716C>A	uc004ddx.3	+	13	2124	c.1768C>A	c.(1768-1770)Caa>Aaa	p.Q590K	SYTL5_uc004ddu.3_Missense_Mutation_p.Q568K|SYTL5_uc004ddv.3_Missense_Mutation_p.Q568K	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	568	C2 2.				intracellular protein transport	membrane	Rab GTPase binding|metal ion binding	p.E590D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGAACAACTCCAAGGTAGAGT	0.398000														63			7		0.000442599	0.00721301	0.000442599	1	0
ITIH1	3697	broad.mit.edu	37	3	52812485	52812485	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:52812485G>A	uc003dfs.3	+	2	298	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	90	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTTCGACCTGGAAATCCCCAA	0.552000														43			28		0	0	0.000491102	0	0
NF1	4763	broad.mit.edu	37	17	29664384	29664384	+	Splice_Site	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:29664384A>G	uc002hgg.3	+	43	6811	c.6428_splice	c.e43-2	p.E2143_splice	NF1_uc002hgh.3_Splice_Site_p.E2122_splice|NF1_uc010cso.3_Splice_Site_p.E331_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2143					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTCTCTTACAGAAGAGACCA	0.318000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				15			21		0	0	0.000229342	0	0
ENOX2	10495	broad.mit.edu	37	X	129804005	129804005	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:129804005G>A	uc004evw.3	-	7	1133	c.715C>T	c.(715-717)Cca>Tca	p.P239S	ENOX2_uc004evx.3_Missense_Mutation_p.P210S|ENOX2_uc004evy.3_Missense_Mutation_p.P210S|ENOX2_uc004evv.3_Missense_Mutation_p.P66S	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	239					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTGGAGATGGTGGACGCAAT	0.453000														35			22		0	0	0.000586117	0	0
MPEG1	219972	broad.mit.edu	37	11	58978743	58978743	+	Silent	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:58978743A>G	uc001nnu.4	-	0	1752	c.1596T>C	c.(1594-1596)ttT>ttC	p.F532F		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	532						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTGTGCAGCTAAAGAACCCGC	0.537000														6			24		0	0	0.000586117	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658303	121658303	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:121658303C>T	uc003eep.2	+	19	2022	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	SLC15A2_uc011bjn.1_Silent_p.V592V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	623					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTGGGGAGGTCATGTTCTCTG	0.428000														50			20		0	0	0.000132079	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224797	57224797	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:57224797G>A	uc010lyk.1	-	2	1022	c.384C>T	c.(382-384)atC>atT	p.I128I	SDR16C5_uc003xsy.1_Silent_p.I128I|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	128					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGCCTGTTACGATTCCGGCAT	0.378000														12			72		0	0	0.000147903	0	0
ITGA5	3678	broad.mit.edu	37	12	54793535	54793535	+	Missense_Mutation	SNP	G	T	T	rs142652896		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:54793535G>T	uc001sga.3	-	26	2803	c.2735C>A	c.(2734-2736)cCg>cAg	p.P912Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	912					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTCAGCCTCCGGGCATTTCTA	0.547000											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			5		0.000602214	0.00978683	0.000602214	1	0
MYO1A	4640	broad.mit.edu	37	12	57422623	57422623	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:57422623G>A	uc001smw.4	-	27	3288	c.3048C>T	c.(3046-3048)gtC>gtT	p.V1016V	MYO1A_uc010sqz.2_Silent_p.V854V|MYO1A_uc009zpd.3_Silent_p.V1016V	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	1016					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCTGGACGACCTTGACAG	0.562000														27			22		0	0	0.000295444	0	0
DSCR10	259234	broad.mit.edu	37	21	39580553	39580553	+	RNA	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:39580553G>A	uc010gnt.2	+	2		c.675G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		GTTTGCCATCGAAGGAAAACC	0.403000														17			96		0	0	0.000147903	0	0
HBBP1	3044	broad.mit.edu	37	11	5264435	5264435	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5264435G>A	uc001mag.3	-	1	267	c.51C>T	c.(49-51)ttC>ttT	p.F17F						Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																		CAGCTTTTCCGAAGGAGATCA	0.498000														2			22		0	0	0.00047179	0	0
OR6C76	390326	broad.mit.edu	37	12	55820290	55820290	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:55820290G>A	uc010spm.2	+	0	253	c.253G>A	c.(253-255)Ggg>Agg	p.G85R		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G85E(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATTCTAACAGGGGACAAATC	0.408000														36			35		0	0	0.000228196	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765849	27765849	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:27765849C>T	uc011mjy.2	+	0	924	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGGCCAAGTTCCTTCCTAACT	0.478000														11			10		0	0	3.86212e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41559187	41559187	+	Splice_Site	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:41559187C>A	uc002yyq.1	-	14	3103	c.2651_splice	c.e14-1	p.E884_splice	DSCAM_uc002yyr.1_Splice_Site	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	884					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGGGGGCTCTGTGCCATCA	0.478000														2			15		9.16793e-09	1.58276e-07	0.000566183	1	0
AADACL2	344752	broad.mit.edu	37	3	151475314	151475314	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:151475314C>T	uc003ezc.3	+	4	1258	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.P167S	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	380						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CATGACTTCACCATTTTATTT	0.338000														36			26		0	0	9.22233e-05	0	0
KCNT2	343450	broad.mit.edu	37	1	196392194	196392194	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:196392194C>T	uc001gtd.1	-	11	1231	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D391N|KCNT2_uc001gtf.1_Missense_Mutation_p.D391N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D391N|KCNT2_uc009wyv.1_Missense_Mutation_p.D366N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	391						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATGTCCTATCCACTTCACAA	0.328000														3			7		0	0	0.000157383	0	0
ILDR2	387597	broad.mit.edu	37	1	166904624	166904624	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:166904624C>A	uc001gdx.2	-	5	850	c.794G>T	c.(793-795)gGa>gTa	p.G265V		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	265						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGGGCTCCTCCCAAAGGGAC	0.597000														85			7		0.000442599	0.00721301	0.000442599	1	0
RHOT2	89941	broad.mit.edu	37	16	720261	720261	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:720261C>T	uc002cip.3	+	6	459	c.342C>T	c.(340-342)atC>atT	p.I114I	RHOT2_uc002ciq.3_Intron|RHOT2_uc010bqy.3_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	114	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGCCCATCATCCTAGTGGGCA	0.642000														20			22		0	0	0.00047179	0	0
PCDH15	65217	broad.mit.edu	37	10	55568979	55568979	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:55568979C>T	uc021pqw.1	-	35	5235	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1609K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACTCTTCTTCACTGTATTCA	0.453000										HNSCC(58;0.16)				22			12		0	0	0.000151284	0	0
FAT3	120114	broad.mit.edu	37	11	92523303	92523303	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:92523303G>A	uc001pdj.4	+	6	4547	c.4530G>A	c.(4528-4530)cgG>cgA	p.R1510R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1510	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAAATTCCGGATTGACCCTA	0.493000										TCGA Ovarian(4;0.039)				26			133		0	0	0.000147903	0	0
PRSS57	400668	broad.mit.edu	37	19	686951	686951	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:686951C>T	uc002lpl.1	-	3	650	c.619G>A	c.(619-621)Gac>Aac	p.D207N	PRSS57_uc010xfs.1_Missense_Mutation_p.D206N	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	Homo sapiens protease, serine, 57 (PRSS57), mRNA.	207	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						CTGTGGCTGTCCCCACTGCGG	0.627000														13			14		0	0	0.000219431	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40647163	40647164	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:40647163_40647164GG>TT	uc002hzs.3	+	12	1614_1615	c.1447_1448GG>TT	c.(1447-1449)ggg>TTg	p.G483L	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.G476L|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.G476L|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.G433L|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.G433L|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.G122L|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.G335L	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	476					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAATATCTTTGGGTCATCCTGG	0.396000														237			9		0	0	6.4e-05	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143452	41143452	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:41143452C>T	uc002ici.1	+	4	1573	c.1561C>T	c.(1561-1563)Cac>Tac	p.H521Y		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	521	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACAGCCATCCACATGGTGCT	0.557000														27			19		0	0	9.7654e-05	0	0
SYT2	127833	broad.mit.edu	37	1	202571173	202571173	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:202571173C>T	uc001gye.3	-	5	839	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SYT2_uc010pqb.2_Missense_Mutation_p.E216K|SYT2_uc009xaf.3_Missense_Mutation_p.E46K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	216	C2 1.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCCCCAAGCTCCTGGTATGGC	0.567000														46			30		0	0	0.000279167	0	0
RAG1	5896	broad.mit.edu	37	11	36595128	36595128	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:36595128C>T	uc021qgb.1	+	0	274	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.H92Y	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	92	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAGAAATTTCACGACAACGA	0.483000									Familial Hemophagocytic Lymphohistiocytosis					9			94		0	0	0.000147903	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139894	55139894	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:55139894C>T	uc003han.4	+	9	1886	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.P413S|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	519					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGGTGGCTCCCAGTGAGTT	0.547000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				4			25		0	0	0.000117367	0	0
OR7D4	125958	broad.mit.edu	37	19	9324991	9324991	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9324991G>A	uc002mla.2	-	0	557	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P175L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AAGAAATGCGGAATCTCAGTG	0.507000														31			19		0	0	0.000229342	0	0
CMYA5	202333	broad.mit.edu	37	5	79026439	79026440	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:79026439_79026440CC>AA	uc003kgc.3	+	1	1923_1924	c.1851_1852CC>AA	c.(1849-1854)ccccca>ccAAca	p.P618T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	618	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCAGTTCCCCCATCCAATGT	0.436000														75			6		0	0	6.4e-05	0	0
NLRC3	197358	broad.mit.edu	37	16	3614107	3614107	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:3614107C>T	uc010btn.3	-	4	1242	c.831G>A	c.(829-831)ggG>ggA	p.G277G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	277	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCACCAGGCCCCCTGGGATCT	0.597000														19			15		0	0	0.000422831	0	0
C14orf102	55051	broad.mit.edu	37	14	90770317	90770317	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:90770317G>A	uc001xyi.2	-	4	1200	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Missense_Mutation_p.R92W	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	323							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGCGTATCCCGAGGATTCTCC	0.517000														29			40		0	0	0.000374591	0	0
ADCY8	114	broad.mit.edu	37	8	131861907	131861908	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:131861907_131861908GG>AA	uc003ytd.4	-	9	2608_2609	c.2352_2353CC>TT	c.(2350-2355)gcccgg>gcTTgg	p.R785W	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAGG	0.465000										HNSCC(32;0.087)				3			23		0	0	6.4e-05	0	0
ABCG1	9619	broad.mit.edu	37	21	43708082	43708082	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:43708082C>T	uc011aev.2	+	8	1164	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	ABCG1_uc002zam.3_Missense_Mutation_p.H331Y|ABCG1_uc002zan.3_Missense_Mutation_p.H355Y|ABCG1_uc002zao.3_Missense_Mutation_p.H350Y|ABCG1_uc002zap.3_Missense_Mutation_p.H353Y|ABCG1_uc002zaq.3_Missense_Mutation_p.H353Y|ABCG1_uc002zar.3_Missense_Mutation_p.H364Y|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	353					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGACTCAGACCACAAGAGAGA	0.552000														15			37		0	0	0.000132358	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344791	38344791	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:38344791C>T	uc010qev.2	+	3	1861	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	ZNF33A_uc001izg.3_Missense_Mutation_p.P580L|ZNF33A_uc001izh.3_Missense_Mutation_p.P579L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.P580L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	579						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGGGAGAAACCCTACGAATGT	0.388000														25			17		0	0	0.000566183	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812232	176812233	+	Missense_Mutation	DNP	GG	AA	AA	rs147224445	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:176812232_176812233GG>AA	uc010fqw.1	-	8	879_880	c.879_880CC>TT	c.(877-882)tcccct>tcTTct	p.P294S	KIAA1715_uc010zes.1_Missense_Mutation_p.P230S|KIAA1715_uc002ukd.1_Missense_Mutation_p.P105S|KIAA1715_uc002ukc.1_Missense_Mutation_p.P228S|KIAA1715_uc010zer.1_Missense_Mutation_p.P228S|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	228						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GAAGTAGCAGGGGATCCAAGAT	0.455000														25			20		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82763974	82763974	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:82763974C>T	uc003uhx.2	-	2	3181	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	PCLO_uc003uhv.2_Missense_Mutation_p.M964I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	910	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCTTGTTTCATTGGGGCCC	0.507000														13			7		0	0	0.000157383	0	0
LRRN1	57633	broad.mit.edu	37	3	3886938	3886938	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:3886938G>A	uc003bpt.4	+	1	1374	c.613G>A	c.(613-615)Gga>Aga	p.G205R	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.G205R	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	205						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCCTGTGATTGGAATTCTGGA	0.418000														48			45		0	0	0.000147903	0	0
PCLO	27445	broad.mit.edu	37	7	82453683	82453683	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:82453683C>A	uc003uhx.2	-	18	14754	c.14465G>T	c.(14464-14466)tGg>tTg	p.W4822L	PCLO_uc003uhv.2_Missense_Mutation_p.W4822L|PCLO_uc003uht.1_Missense_Mutation_p.W264L|PCLO_uc003uhu.1_Missense_Mutation_p.W243L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4684					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGAGGATACCACCTTGGAGT	0.388000														30			19		2.98393e-07	5.13625e-06	0.000375601	1	0
HLTF	6596	broad.mit.edu	37	3	148759427	148759427	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:148759427C>T	uc003ewq.1	-	19	2444	c.2226G>A	c.(2224-2226)aaG>aaA	p.K742K	HLTF_uc003ewr.1_Silent_p.K742K|HLTF_uc003ews.1_Silent_p.K741K|HLTF_uc010hve.1_Silent_p.K741K	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	742					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTAACTTCTTTCTCAGTT	0.343000														60			37		0	0	0.000319135	0	0
SIRT1	23411	broad.mit.edu	37	10	69669084	69669084	+	Silent	SNP	T	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:69669084T>C	uc001jnd.3	+	6	1295	c.1242T>C	c.(1240-1242)ttT>ttC	p.F414F	SIRT1_uc010qis.2_Silent_p.F119F|SIRT1_uc009xpp.3_Silent_p.F222F|SIRT1_uc001jne.3_Silent_p.F111F	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	414	Deacetylase sirtuin-type.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TTGTGTTTTTTGGTGAAAATT	0.408000														32			24		0	0	0.00047179	0	0
CD1B	910	broad.mit.edu	37	1	158298032	158298032	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:158298032G>A	uc001frx.3	-	5	1104	c.996C>T	c.(994-996)atC>atT	p.I332I	CD1B_uc001frw.3_Silent_p.I277I	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	332					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGCTCATGGGATATTCTGAT	0.348000														86			8		0	0	0.000274275	0	0
OR7D2	162998	broad.mit.edu	37	19	9297187	9297187	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9297187C>T	uc002mkz.1	+	0	918	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	244					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGGTCTCACCTCTCCGT	0.478000														31			17		0	0	0.000566183	0	0
DOCK2	1794	broad.mit.edu	37	5	169494644	169494644	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:169494644G>A	uc003maf.3	+	44	4678	c.4598G>A	c.(4597-4599)gGg>gAg	p.G1533E	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G1025E|DOCK2_uc003mah.3_Missense_Mutation_p.G89E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1533	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTGAACGGGATTGTGGAC	0.532000														7			70		0	0	0.000147903	0	0
UNC5D	137970	broad.mit.edu	37	8	35544076	35544076	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:35544076G>A	uc003xjr.2	+	6	1261	c.933G>A	c.(931-933)tgG>tgA	p.W311*	UNC5D_uc003xjs.2_Nonsense_Mutation_p.W306*|UNC5D_uc003xjt.1_Nonsense_Mutation_p.W80*	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	311	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity	p.E311E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATGGGAGCTGGGAAGTGTGGA	0.522000														6			34		0	0	0.000509022	0	0
LTBP4	8425	broad.mit.edu	37	19	41128911	41128912	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:41128911_41128912CT>TC	uc002ooh.1	+	27	3739_3740	c.3739_3740CT>TC	c.(3739-3741)ctg>TCg	p.L1247S	LTBP4_uc002oog.1_Missense_Mutation_p.L1210S|LTBP4_uc002ooi.1_Missense_Mutation_p.L1180S|LTBP4_uc002ooj.1_Missense_Mutation_p.L121S|LTBP4_uc002ook.1_Missense_Mutation_p.L382S|LTBP4_uc002ool.1_Missense_Mutation_p.L260S|LTBP4_uc010xvp.1_Intron	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1248					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGTGGAGACCTGAGCCTCCGG	0.619000														6			8		0	0	6.4e-05	0	0
DSC3	1825	broad.mit.edu	37	18	28576991	28576991	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:28576991G>A	uc002kwj.4	-	14	2414	c.2259C>T	c.(2257-2259)acC>acT	p.T753T	DSC3_uc002kwi.4_Silent_p.T753T	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	753					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGGTAGTTTGGGTCATAAATC	0.388000														20			14		0	0	0.000422831	0	0
RBP2	5948	broad.mit.edu	37	3	139173626	139173626	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:139173626C>T	uc003eth.3	-	2	350	c.299G>A	c.(298-300)gGg>gAg	p.G100E		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	100					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CTCCTTCTCCCCCTTTTGCAC	0.517000														49			29		0	0	0.000132358	0	0
PDPR	55066	broad.mit.edu	37	16	70176252	70176252	+	Silent	SNP	T	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:70176252T>C	uc002eyf.1	+	11	2388	c.1431T>C	c.(1429-1431)caT>caC	p.H477H	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.H377H|PDPR_uc002eyg.1_Silent_p.H205H	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	477					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGGAGAAACATGGATTTGAGA	0.483000														71			20		0	0	0.000375601	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4414791	4414791	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:4414791G>A	uc002cwf.3	-	11	1472	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.Y123Y|CORO7-PAM16_uc002cwh.4_Silent_p.Y343Y|CORO7-PAM16_uc010uxh.2_Silent_p.Y325Y|CORO7-PAM16_uc010uxi.2_Silent_p.Y258Y|CORO7-PAM16_uc002cwi.1_Silent_p.Y123Y|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.Y123Y	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GGGGCACATGGTAGCCGATGG	0.701000														6			6		0	0	3.59834e-05	0	0
LRP5	4041	broad.mit.edu	37	11	68197081	68197081	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:68197081C>T	uc001ont.3	+	16	3751	c.3676C>T	c.(3676-3678)Cac>Tac	p.H1226Y	LRP5_uc009ysg.3_Missense_Mutation_p.H636Y	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1226	EGF-like 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCTGCTCCCACATCTGTAT	0.577000														9			43		0	0	0.000147903	0	0
HUWE1	10075	broad.mit.edu	37	X	53576138	53576139	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:53576138_53576139GT>AA	uc004dsp.3	-	66	10218_10219	c.9816_9817AC>TT	c.(9814-9819)ctacac>ctTTac	p.H3273Y	HUWE1_uc004dsn.3_Missense_Mutation_p.H2081Y	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3273					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCATCTTGTGTAGCAGGTCCA	0.500000														40			44		0	0	6.4e-05	0	0
SPAG6	9576	broad.mit.edu	37	10	22678237	22678237	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:22678237C>T	uc001iri.3	+	6	1168	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	SPAG6_uc010qct.2_Missense_Mutation_p.S309F|SPAG6_uc009xkh.3_Missense_Mutation_p.S312F|SPAG6_uc001irj.3_Missense_Mutation_p.S334F|SPAG6_uc021poe.1_Missense_Mutation_p.S60F	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	334					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTCATCATTTCTAAGGTTTGT	0.418000														8			8		0	0	0.000442599	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627012	108627012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:108627012G>A	uc003dxj.2	-	3	555	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	GUCA1C_uc003dxk.2_Missense_Mutation_p.S176L	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	163	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						AGGAGATCCTGATCTTTTGCC	0.413000														25			22		0	0	0.000375601	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111541138	111541139	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:111541138_111541139CC>AA	uc003kpv.1	-	13	1515_1516	c.1241_1242GG>TT	c.(1240-1242)tgg>tTT	p.W414F	EPB41L4A_uc003kpp.1_Missense_Mutation_p.W41F	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	414						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CATTTTCTTCCCACGGTGCATG	0.351000														361			11		0	0	6.4e-05	0	0
CR1	1378	broad.mit.edu	37	1	207785355	207785356	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:207785355_207785356GG>TT	uc001hfy.3	+	30	5334_5335	c.5194_5195GG>TT	c.(5194-5196)ggg>TTg	p.G1732L	CR1_uc001hfx.3_Missense_Mutation_p.G2182L|CR1_uc021pij.1_Missense_Mutation_p.G1732L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1732	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCTCCAGCTTGGGGCAAAGGTG	0.475000														403			10		0	0	6.4e-05	0	0
PRR12	57479	broad.mit.edu	37	19	50099552	50099552	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:50099552C>T	uc002poo.4	+	3	1960	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	412	Pro-rich.						DNA binding	p.R654W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CAGCCCTCCTCGGACCTCAGG	0.706000														4			4		0	0	0.00024832	0	0
FAM127B	26071	broad.mit.edu	37	X	134186036	134186036	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:134186036C>T	uc004eyf.3	-	0	186	c.103G>A	c.(103-105)Gga>Aga	p.G35R	FAM127B_uc004eyg.4_Missense_Mutation_p.G35R	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN	Homo sapiens family with sequence similarity 127, member B (FAM127B), transcript variant 1, mRNA.	35								p.D34N(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					TCGGTATCTCCGTCAAACGTC	0.642000														40			25		0	0	0.000279167	0	0
USP26	83844	broad.mit.edu	37	X	132160163	132160163	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:132160163G>A	uc011mvf.2	-	0	2138	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	USP26_uc010nrm.1_Missense_Mutation_p.P696S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	696					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTCGTTTTGGATTTTCGGGC	0.383000														26			18		0	0	7.07596e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9018458	9018458	+	Silent	SNP	A	T	T	rs138331829	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9018458A>T	uc002mkp.3	-	23	37920	c.37716T>A	c.(37714-37716)acT>acA	p.T12572T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12574	SEA 4.				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						GGACCCTCTCAGTGGTGTTGA	0.557000														94			6		0	0	0.000274275	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766717	64766717	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:64766717C>T	uc003jtp.3	-	2	1164	c.350G>A	c.(349-351)gGg>gAg	p.G117E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	117					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCATCTTTCCCCCAATATTC	0.358000														7			54		0	0	0.000147903	0	0
ZNF791	163049	broad.mit.edu	37	19	12738600	12738601	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:12738600_12738601CC>AA	uc002mua.2	+	3	419_420	c.257_258CC>AA	c.(256-258)ccc>cAA	p.P86Q	ZNF791_uc010xml.1_Missense_Mutation_p.P54Q|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	86	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AACTTCAGTCCCAATCTCAGTG	0.431000														133			7		0	0	6.4e-05	0	0
KRT72	140807	broad.mit.edu	37	12	52994945	52994945	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:52994945G>A	uc001sar.2	-	0	378	c.292C>T	c.(292-294)Cct>Tct	p.P98S	KRT72_uc001saq.2_Missense_Mutation_p.P98S|KRT72_uc010sns.1_Missense_Mutation_p.P98S|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	98	Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GTGACCTGAGGGATGCCCCCG	0.731000														9			6		0	0	8.12818e-05	0	0
GALNTL2	117248	broad.mit.edu	37	3	16216975	16216975	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:16216975G>A	uc003car.4	+	0	792	c.317G>A	c.(316-318)aGg>aAg	p.R106K	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	106						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CAGGCCAGAAGGAACCAGAGC	0.622000														12			7		0	0	3.86212e-05	0	0
RBM27	54439	broad.mit.edu	37	5	145613065	145613065	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:145613065T>G	uc003lnz.4	+	6	1069	c.903T>G	c.(901-903)gaT>gaG	p.D301E	RBM27_uc003lny.2_Missense_Mutation_p.D301E	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	301					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGAAATGATCCCCTAGTTG	0.423000														26			158		0	0	0.000147903	0	0
UPK1B	7348	broad.mit.edu	37	3	118909871	118909871	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:118909871C>A	uc003ecc.3	+	4	477	c.388C>A	c.(388-390)Caa>Aaa	p.Q130K	UPK1B_uc011bix.2_Missense_Mutation_p.Q50K|UPK1B_uc003ecd.3_Missense_Mutation_p.Q122K	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	130					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGAGAGGTACCAAAACAACAG	0.483000														178			8		7.48243e-07	1.28415e-05	0.000442599	1	0
WNT10B	7480	broad.mit.edu	37	12	49361771	49361771	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:49361771G>A	uc001rss.3	-	3	1113	c.669C>T	c.(667-669)atC>atT	p.I223I	WNT10B_uc001rst.3_Missense_Mutation_p.S176F	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	223					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TTCGTGCCTGGATGTCCCGGG	0.547000														11			7		0	0	8.12818e-05	0	0
LRRK1	79705	broad.mit.edu	37	15	101565040	101565040	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:101565040C>T	uc002bwr.3	+	15	2419	c.2100C>T	c.(2098-2100)atC>atT	p.I700I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	700	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTGGGACATCGGGGGACCGG	0.587000														57			36		0	0	0.000270559	0	0
LDB3	11155	broad.mit.edu	37	10	88439896	88439896	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:88439896G>A	uc001kdv.3	+	2	326	c.303G>A	c.(301-303)ccG>ccA	p.P101P	LDB3_uc010qml.1_Silent_p.P101P|LDB3_uc010qmm.2_Silent_p.P101P|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Silent_p.P101P|LDB3_uc001kdr.3_Silent_p.P101P|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P101P|LDB3_uc001kds.3_Silent_p.P101P	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	101			P -> L (in dbSNP:rs45592139).			cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCCCTCTGCCGGTGATCCCTC	0.612000														21			14		0	0	0.000308642	0	0
EHHADH	1962	broad.mit.edu	37	3	184910256	184910256	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:184910256C>T	uc003fpf.3	-	6	2006	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	EHHADH_uc011brs.2_Missense_Mutation_p.E548K	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	644						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.P643Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCAATGTGCTCTGGGCTAGCA	0.478000														45			31		0	0	0.000132358	0	0
MAP7	9053	broad.mit.edu	37	6	136667071	136667072	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:136667071_136667072GG>AA	uc011edg.2	-	16	2500_2501	c.2251_2252CC>TT	c.(2251-2253)cca>TTa	p.P751L	MAP7_uc011edf.2_Missense_Mutation_p.P706L|MAP7_uc010kgu.3_Missense_Mutation_p.P743L|MAP7_uc011edh.2_Missense_Mutation_p.P706L|MAP7_uc010kgv.3_Missense_Mutation_p.P743L|MAP7_uc010kgs.3_Missense_Mutation_p.P575L|MAP7_uc011edi.2_Missense_Mutation_p.P575L|MAP7_uc010kgq.2_Missense_Mutation_p.P627L|MAP7_uc003qgz.3_Missense_Mutation_p.P721L|MAP7_uc003qha.2_Missense_Mutation_p.P684L	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	721					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGCCAAAATTGGATTCAAAGGA	0.436000														3			12		0	0	6.4e-05	0	0
TBX4	9496	broad.mit.edu	37	17	59557523	59557523	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:59557523G>A	uc010ddo.3	+	7	1027	c.864G>A	c.(862-864)ccG>ccA	p.P288P	TBX4_uc002izi.3_Silent_p.P288P|TBX4_uc010woy.2_Silent_p.P288P	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	288					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P288P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACACCGGACGTGGGCC	0.637000														39			57		0	0	0.000147903	0	0
HRH1	3269	broad.mit.edu	37	3	11301037	11301037	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:11301037C>T	uc010hdr.3	+	1	656	c.314C>T	c.(313-315)tCc>tTc	p.S105F	HRH1_uc010hds.3_Missense_Mutation_p.S105F|HRH1_uc010hdt.3_Missense_Mutation_p.S105F|HRH1_uc003bwb.4_Missense_Mutation_p.S105F|HRH1_uc021wtb.1_Missense_Mutation_p.S105F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TTTTGGCTTTCCATGGACTAT	0.542000														92			58		0	0	0.000147903	0	0
ROBO4	54538	broad.mit.edu	37	11	124766432	124766432	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:124766432C>T	uc001qbg.3	-	2	675	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	ROBO4_uc010sas.2_Missense_Mutation_p.A34T|ROBO4_uc001qbh.2_Missense_Mutation_p.A69T|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	179	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCTGGAGGGCCAGGGGTTTC	0.632000														8			44		0	0	0.000147903	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543272	21543272	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:21543272C>T	uc001vzp.3	+	2	1412	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	ARHGEF40_uc001vzn.1_Silent_p.A461A|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	461					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTCTGAAGCCTGTGGGCCTA	0.577000														24			14		0	0	0.000219431	0	0
MAGIX	79917	broad.mit.edu	37	X	49021239	49021239	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:49021239G>A	uc010nin.1	+	3	365	c.318G>A	c.(316-318)ttG>ttA	p.L106L	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Silent_p.L47L|MAGIX_uc004dmw.2_Intron	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	106																	CTCCCCAATTGATCCAGGGTA	0.542000														75			47		0	0	0.000147903	0	0
VPS13B	157680	broad.mit.edu	37	8	100866132	100866132	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:100866132G>A	uc003yiv.3	+	55	10701	c.10590G>A	c.(10588-10590)cgG>cgA	p.R3530R	VPS13B_uc003yiw.3_Silent_p.R3505R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3530					protein transport			p.R3530W(1)|p.R3530R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACCTGCTCGGTTATACGTGG	0.413000														11			104		0	0	0.000147903	0	0
OR14C36	127066	broad.mit.edu	37	1	248512755	248512755	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:248512755C>T	uc010pzl.2	+	0	679	c.679C>T	c.(679-681)Cca>Tca	p.P227S		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GCTCGGGTTTCCAAGAGGAGC	0.507000														5			55		0	0	0.000147903	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918970	21918970	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:21918970C>T	uc001rff.3	-	2	1300	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	321						voltage-gated potassium channel complex		p.W320*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AAAGCGGTGGCCCCATTGGAT	0.478000														33			30		0	0	0.00058488	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840402	27840402	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:27840402C>T	uc022bud.1	+	0	979	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	MAGEB10_uc004dbw.3_Missense_Mutation_p.R327C	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	327										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AGCCAAGGCTCGCGTTAGTGC	0.483000														16			11		0	0	0.000219431	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:145947433G>A	uc003zdv.4	-	4	1868	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P538P(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000														15			90		0	0	0.000147903	0	0
LZTR1	8216	broad.mit.edu	37	22	21343934	21343934	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:21343934T>G	uc002zto.3	+	6	717	c.614T>G	c.(613-615)aTt>aGt	p.I205S	LZTR1_uc002ztn.3_Missense_Mutation_p.I164S|LZTR1_uc011ahy.2_Missense_Mutation_p.I186S|LZTR1_uc010gsr.1_Missense_Mutation_p.I76S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	205					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATGTGGACAATTGGCCTCCAG	0.647000														8			11		0	0	0.00010058	0	0
ZNF117	51351	broad.mit.edu	37	7	64438953	64438953	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:64438953G>A	uc003ttr.2	-	3	2281	c.996C>T	c.(994-996)ccC>ccT	p.P332P		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CACATTTGTAGGGTTTCTCTC	0.358000														18			11		0	0	0.00010058	0	0
HMBOX1	79618	broad.mit.edu	37	8	28837649	28837649	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:28837649C>T	uc003xhd.4	+	3	904	c.562C>T	c.(562-564)Caa>Taa	p.Q188*	HMBOX1_uc010lvd.3_Nonsense_Mutation_p.Q188*|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Nonsense_Mutation_p.Q188*|HMBOX1_uc011lay.2_Nonsense_Mutation_p.Q188*|HMBOX1_uc003xhg.3_Nonsense_Mutation_p.Q176*|HMBOX1_uc003xhf.3_Nonsense_Mutation_p.Q176*	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	188					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGGATTTCCCAAGCAGTTGT	0.428000														27			150		0	0	0.000147903	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000														24			6		0	0	0.000157383	0	0
C2orf44	80304	broad.mit.edu	37	2	24261446	24261446	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:24261446C>T	uc002rep.2	-	1	1050	c.919G>A	c.(919-921)Gac>Aac	p.D307N	C2orf44_uc010eya.2_Missense_Mutation_p.D307N	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	307							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAAGTAGTCCTTTTTTCTT	0.378000			T	ALK	NSCLC									29			29		0	0	0.000147802	0	0
MUC1	4582	broad.mit.edu	37	1	155161850	155161850	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:155161850C>T	uc021pap.1	-	1	382	c.310G>A	c.(310-312)Gga>Aga	p.G104R	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.G95R|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.G104R|MUC1_uc001fiw.2_Missense_Mutation_p.G95R|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	875						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATCCTGTCCCCAGGTGGCA	0.677000			T	IGH@	B-NHL									3			35		0	0	0.000409698	0	0
PDZD9	255762	broad.mit.edu	37	16	21995727	21995728	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:21995727_21995728GG>AA	uc021ter.1	-	2	538_539	c.475_476CC>TT	c.(475-477)cct>TTt	p.P159F	PDZD9_uc002dka.2_Missense_Mutation_p.P157F	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	219										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GTATGGAGAAGGGGCCCTCACT	0.431000														103			58		0	0	6.4e-05	0	0
C1orf194	127003	broad.mit.edu	37	1	109650609	109650610	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:109650609_109650610CC>TT	uc009wev.3	-	1	199_200	c.131_132GG>AA	c.(130-132)tgg>tAA	p.W44*	C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Nonsense_Mutation_p.W32*	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN	Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA.	44										large_intestine(2)|lung(2)|ovary(2)	6						TGAGCCGACTCCAGGGTTCCTG	0.475000														6			101		0	0	6.4e-05	0	0
AHDC1	27245	broad.mit.edu	37	1	27874405	27874405	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:27874405A>T	uc021ojw.1	-	0	4222	c.4222T>A	c.(4222-4224)Ttc>Atc	p.F1408I	AHDC1_uc009vsy.3_Missense_Mutation_p.F1408I|AHDC1_uc009vsz.1_Missense_Mutation_p.F1408I	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1408							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCTTCCTTGAAGCCCAGTGTA	0.667000														6			27		0	0	0.000184323	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210912	193210912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:193210912C>T	uc003ftd.3	-	3	527	c.419G>A	c.(418-420)tGg>tAg	p.W140*	ATP13A4_uc003fte.1_Nonsense_Mutation_p.W140*|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	140					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAAGTAGTTCCAAACATATCT	0.333000														43			29		0	0	0.000159656	0	0
ANKS6	203286	broad.mit.edu	37	9	101536204	101536204	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:101536204C>T	uc004ayu.3	-	8	1797	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	ANKS6_uc004ayv.2_Silent_p.Q54Q|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.Q291Q	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	592										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGCTGGCTCTCTGGGGCAGCG	0.597000														16			12		0	0	0.000219431	0	0
F8	2157	broad.mit.edu	37	X	154091474	154091475	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:154091474_154091475CC>AA	uc004fmt.3	-	22	6628_6629	c.6457_6458GG>TT	c.(6457-6459)ggg>TTg	p.G2153L	F8_uc004fms.3_Missense_Mutation_p.G18L	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2153	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTGTTTTATCCCAGATGAATCC	0.381000														79			7		0	0	6.4e-05	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529814	97529814	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:97529814G>A	uc002sxg.4	-	8	1569	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Silent_p.F393F	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	393	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTTCTTGACGAAGTTGAGGA	0.647000														14			11		0	0	0.00010058	0	0
RASGRP1	10125	broad.mit.edu	37	15	38793488	38793488	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:38793488C>T	uc001zke.4	-	13	1717	c.1539_splice	c.e13-1	p.R513_splice	RASGRP1_uc010bbe.3_Intron|RASGRP1_uc010bbf.3_Splice_Site_p.R340_splice|RASGRP1_uc010bbg.3_Splice_Site_p.R340_splice|RASGRP1_uc001zkd.4_Splice_Site_p.R478_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	513	EF-hand 2.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGGCCTTCCCTGCCGGCAG	0.522000														23			14		0	0	0.000566183	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165876	119165876	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:119165876G>A	uc003eck.1	-	4	927	c.564C>T	c.(562-564)ttC>ttT	p.F188F	TMEM39A_uc003ecl.1_Silent_p.F36F	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	188						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGTAGCCAAGGAAAAGGAGAT	0.393000														15			20		0	0	0.000295444	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:70359506G>A	uc003hek.4	-	1	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000														5			27		0	0	0.000117367	0	0
GPD1	2819	broad.mit.edu	37	12	50500638	50500639	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:50500638_50500639CC>TT	uc001rvz.3	+	4	583_584	c.550_551CC>TT	c.(550-552)cca>TTa	p.P184L	GPD1_uc001rwa.3_Missense_Mutation_p.P161L	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	184					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GATGCAGACACCAAACTTCCGT	0.530000														22			18		0	0	6.4e-05	0	0
ILF2	3608	broad.mit.edu	37	1	153640109	153640110	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:153640109_153640110CC>AA	uc001fcr.3	-	5	396_397	c.315_316GG>TT	c.(313-318)gtggga>gtTTga	p.G106*	ILF2_uc010pdy.2_Nonsense_Mutation_p.G68*|ILF2_uc009wol.1_Nonsense_Mutation_p.G68*	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.	106	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	p.V105V(2)		cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTATAGGATCCCACCTGTCGAA	0.446000														375			10		0	0	6.4e-05	0	0
IL17RA	23765	broad.mit.edu	37	22	17583071	17583071	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:17583071C>T	uc002zly.3	+	6	772	c.641C>T	c.(640-642)gCc>gTc	p.A214V		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	214					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCTGGAGGCCCACCAGCTG	0.587000														34			21		0	0	0.000295444	0	0
OR13F1	138805	broad.mit.edu	37	9	107266590	107266590	+	Missense_Mutation	SNP	G	A	A	rs138844331		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:107266590G>A	uc011lvm.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16V(2)|p.G16E(2)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTTCCTGGGATTTTTTCAC	0.403000														38			17		0	0	7.07596e-05	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884820	38884820	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:38884820G>A	uc002ywk.3	+	10	2354	c.2278G>A	c.(2278-2280)Gta>Ata	p.V760I	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.V751I|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.V521I	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	760					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACAGAGTCCTGTAGCTAGCTC	0.423000														42			36		0	0	0.000319135	0	0
CENPF	1063	broad.mit.edu	37	1	214813330	214813331	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:214813330_214813331CC>AA	uc001hkm.3	+	11	1823_1824	c.1649_1650CC>AA	c.(1648-1650)tcc>tAA	p.S550*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	550					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGAAAACTCCTTGACTTTAG	0.347000														391			12		0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:228882461G>A	uc002vpq.2	-	6	3156	c.3109C>T	c.(3109-3111)Ctt>Ttt	p.L1037F	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1037F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1037F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1037						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCAAAAAGATTGACAGAA	0.502000														49			50		0	0	0.000147903	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446936	202446936	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:202446936G>A	uc002uyf.3	-	4	573	c.521C>T	c.(520-522)cCc>cTc	p.P174L	ALS2CR11_uc002uye.3_Missense_Mutation_p.P174L|ALS2CR11_uc010fti.3_Missense_Mutation_p.P174L|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P174L	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	174										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATAACGTCTGGGAACCTCAAT	0.289000														87			62		0	0	0.000147903	0	0
FBXL18	80028	broad.mit.edu	37	7	5540613	5540613	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:5540613C>T	uc003soo.2	-	2	1381	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	FBXL18_uc003son.4_Silent_p.A429A	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	429								p.S428S(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		cggcgcgcggcgcggAGTCAG	0.736000														9			5		0	0	0.000602214	0	0
KIF16B	55614	broad.mit.edu	37	20	16360709	16360709	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:16360709G>A	uc002wpg.2	-	18	2097	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	KIF16B_uc002wpe.1_Silent_p.I28I|KIF16B_uc002wpf.1_Silent_p.I28I|KIF16B_uc010gch.2_Silent_p.I646I|KIF16B_uc010gci.2_Silent_p.I646I|KIF16B_uc010gcj.2_Silent_p.I657I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	646	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GGAGCTGCACGATTTCTGTCT	0.502000														93			73		0	0	0.000147903	0	0
ZNF335	63925	broad.mit.edu	37	20	44587939	44587939	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:44587939G>A	uc002xqw.3	-	14	2277	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	ZNF335_uc010zxk.2_Silent_p.S563S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCGACGGCGGGAGGGGGGCT	0.657000														27			28		0	0	0.000147802	0	0
SEC22C	9117	broad.mit.edu	37	3	42610483	42610483	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:42610483G>A	uc003clj.3	-	1	266	c.56C>T	c.(55-57)tCa>tTa	p.S19L	SEC22C_uc003clh.3_Missense_Mutation_p.S19L|SEC22C_uc010hic.3_Missense_Mutation_p.S19L|SEC22C_uc011azo.2_5'UTR|SEC22C_uc003cli.3_Missense_Mutation_p.S19L	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	19	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGTAGAGGCTGAGAGGGGCAG	0.512000														21			10		0	0	0.000442599	0	0
LYPD1	116372	broad.mit.edu	37	2	133426022	133426022	+	Silent	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:133426022C>A	uc002ttm.4	-	2	289	c.189G>T	c.(187-189)acG>acT	p.T63T	LYPD1_uc002ttn.3_Silent_p.T47T|LYPD1_uc002tto.3_5'UTR	NM_001077427	NP_001070895	Q8N2G4	LYPD1_HUMAN	Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA.	47	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						GAACGTTCACCGTGCAATTCA	0.547000														50			6		0.000442599	0.00721301	0.000442599	1	0
NOVA2	4858	broad.mit.edu	37	19	46444131	46444131	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:46444131T>C	uc002pdv.2	-	3	517	c.469A>G	c.(469-471)Atg>Gtg	p.M157V		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	157	KH 2.					nucleus	RNA binding	p.V156M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GACTGTTCCATCACGGCTTTC	0.652000														13			10		0	0	6.40141e-05	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405201	130405201	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:130405201G>A	uc003enj.3	-	14	3910	c.3329C>T	c.(3328-3330)tCt>tTt	p.S1110F		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1110					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAAGAACAGACTGTGCTCC	0.468000														21			11		0	0	0.00010058	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139401	101139401	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:101139401G>A	uc011mrl.2	-	6	1348	c.998C>T	c.(997-999)tCt>tTt	p.S333F	ZMAT1_uc004eim.3_Missense_Mutation_p.S162F|ZMAT1_uc004ein.3_Missense_Mutation_p.S162F|ZMAT1_uc011mrm.2_Missense_Mutation_p.S162F	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	162						nucleus	zinc ion binding	p.Q333H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTATCCACAGAGTTCTCTCT	0.413000														8			20		0	0	0.000295444	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623315	21623315	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:21623315G>A	uc010tlp.2	-	0	870	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGCACAGGTGGAAAATGCCT	0.517000														16			10		0	0	0.000442599	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:140474589G>A	uc003lil.3	+	0	353	c.215G>A	c.(214-216)gGa>gAa	p.G72E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000														7			61		0	0	0.000147903	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600048	81600048	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:81600048C>T	uc003uhr.1	-	26	2403	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	728						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCTTTCACTCCCTTGCTGAA	0.338000														23			17		0	0	9.7654e-05	0	0
DLGAP3	58512	broad.mit.edu	37	1	35350619	35350619	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:35350619C>T	uc001byc.3	-	5	1960	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	654					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GAGTGGAACTCCCTCCGGCTC	0.602000														4			39		0	0	0.000147903	0	0
ZNF592	9640	broad.mit.edu	37	15	85326620	85326620	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:85326620C>T	uc002bld.3	+	3	1050	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	238					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F238F(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCGATTCTTCGGGGAAGCTT	0.582000														64			43		0	0	0.000147903	0	0
SVOP	55530	broad.mit.edu	37	12	109306351	109306351	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:109306351C>T	uc010sxh.1	-	15	1617	c.1445G>A	c.(1444-1446)gGt>gAt	p.G482D		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	536						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						AACACCTGCACCGTGCATTCC	0.627000														75			47		0	0	0.000147903	0	0
SH3TC1	54436	broad.mit.edu	37	4	8220074	8220074	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:8220074G>A	uc003gkv.4	+	8	1017	c.916_splice	c.e8+1	p.A306_splice	SH3TC1_uc003gkw.4_Splice_Site_p.A230_splice|SH3TC1_uc003gkx.4_Splice_Site	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	306	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCGCTGATGGGTAAGTGTTT	0.577000														8			20		0	0	0.000295444	0	0
RYR1	6261	broad.mit.edu	37	19	39071075	39071075	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:39071075C>T	uc002oit.3	+	100	14707	c.14577C>T	c.(14575-14577)ttC>ttT	p.F4859F	RYR1_uc002oiu.3_Silent_p.F4854F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4859					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAACTTCTTCCGCAAGT	0.592000														39			10		0	0	6.40141e-05	0	0
AK2	204	broad.mit.edu	37	1	33478818	33478818	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:33478818G>A	uc001bwp.2	-	5	767	c.684C>T	c.(682-684)tcC>tcT	p.S228S	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Silent_p.S180S|AK2_uc010ohq.2_Silent_p.S220S|AK2_uc001bwo.2_Silent_p.S228S|AK2_uc009vud.2_Silent_p.S186S|AK2_uc010ohr.2_Silent_p.S180S	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	228					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATGTGGCTTTGGAGAAGGCTG	0.502000														12			80		0	0	0.000147903	0	0
RNF17	56163	broad.mit.edu	37	13	25338397	25338397	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:25338397G>A	uc001upr.3	+	0	97	c.56G>A	c.(55-57)gGg>gAg	p.G19E	RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.G19E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.G19E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	19					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCGAATGGGGAGGAAGAGT	0.612000														3			16		0	0	0.000308642	0	0
EFTUD2	9343	broad.mit.edu	37	17	42942341	42942341	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:42942341G>A	uc002ihn.2	-	13	1503	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	EFTUD2_uc010wje.1_Silent_p.P379P|EFTUD2_uc010wjf.1_Silent_p.P404P	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	414						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.R413C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCCTGAGCAAGGGGCGGATGT	0.562000											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			43		0	0	0.000147903	0	0
DNAH9	1770	broad.mit.edu	37	17	11845635	11845635	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:11845635G>A	uc002gne.3	+	66	12744	c.12676G>A	c.(12676-12678)Gaa>Aaa	p.E4226K	DNAH9_uc010coo.3_Missense_Mutation_p.E3444K|DNAH9_uc002gnf.3_Missense_Mutation_p.E538K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4226					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCACTTCTGGAAGAAATATT	0.498000														100			16		0	0	9.7654e-05	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839022	40839022	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:40839022C>T	uc002iay.3	+	6	1218	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	334	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCGTCAACATCGCAGACCTGG	0.597000														48			14		0	0	0.000422831	0	0
NOL10	79954	broad.mit.edu	37	2	10807351	10807351	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:10807351G>A	uc002raq.2	-	7	709	c.584C>T	c.(583-585)aCc>aTc	p.T195I	NOL10_uc010yje.1_Missense_Mutation_p.T169I|NOL10_uc010yjf.1_Missense_Mutation_p.T145I|NOL10_uc002rap.2_Missense_Mutation_p.T195I|NOL10_uc002rar.2_Missense_Mutation_p.T45I	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	195						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TACCTCTATGGTTCCTGTGGC	0.323000														8			6		0	0	0.000157383	0	0
DDR1	780	broad.mit.edu	37	6	30859856	30859856	+	Missense_Mutation	SNP	G	T	T	rs112944019		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:30859856G>T	uc003nrv.3	+	5	785	c.743G>T	c.(742-744)cGg>cTg	p.R248L	DDR1_uc010jse.3_Missense_Mutation_p.R248L|DDR1_uc003nrq.3_Missense_Mutation_p.R248L|DDR1_uc003nrr.3_Missense_Mutation_p.R248L|DDR1_uc003nrs.3_Missense_Mutation_p.R248L|DDR1_uc003nrt.3_Missense_Mutation_p.R248L|DDR1_uc011dms.2_Missense_Mutation_p.R266L|DDR1_uc003nru.3_Missense_Mutation_p.R248L|DDR1_uc011dmu.1_Missense_Mutation_p.G215W|DDR1_uc003nry.2_Missense_Mutation_p.R248L|DDR1_uc003nrx.2_Missense_Mutation_p.R248L|DDR1_uc003nrw.1_Missense_Mutation_p.R47L	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	248					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R248L(2)|p.R248R(2)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGGAGCTGCGGGTCTGGCCA	0.577000														78			7		3.86212e-05	0.000655097	3.86212e-05	1	0
A1CF	29974	broad.mit.edu	37	10	52619645	52619645	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:52619645G>A	uc001jjj.3	-	2	244	c.56C>T	c.(55-57)gCc>gTc	p.A19V	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Missense_Mutation_p.A19V|A1CF_uc001jji.3_Missense_Mutation_p.A19V|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Missense_Mutation_p.A19V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	19					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGCGCGGAGGGCTGCTTCCTT	0.483000														11			10		0	0	0.00010058	0	0
TF	7018	broad.mit.edu	37	3	133494371	133494371	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:133494371G>A	uc003epu.2	+	19	3510	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	TF_uc011blt.2_Silent_p.A467A|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.A594A	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	594	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.A594V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGAGTATGCGAACTGCCACC	0.498000														61			39		0	0	0.000589545	0	0
DPYD	1806	broad.mit.edu	37	1	97544568	97544568	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:97544568C>T	uc001drv.3	-	22	3179	c.3042G>A	c.(3040-3042)aaG>aaA	p.K1014K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	1014					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.P1013S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTACGCCTCTCTTTGGTTCAT	0.428000														9			32		0	0	0.000159656	0	0
USP6	9098	broad.mit.edu	37	17	5058771	5058771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:5058771G>A	uc002gau.1	+	30	4928	c.2698G>A	c.(2698-2700)Gga>Aga	p.G900R	USP6_uc002gav.1_Missense_Mutation_p.G900R|USP6_uc010ckz.1_Missense_Mutation_p.G583R	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	900					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCCTCTTTGGAATGCCATT	0.473000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									95			22		0	0	0.000117367	0	0
LYST	1130	broad.mit.edu	37	1	235969220	235969220	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:235969220G>A	uc001hxj.2	-	5	3391	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.S1072S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1072					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCACATTTATGGAAGAAATAT	0.383000														5			87		0	0	0.000147903	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952265	144952265	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:144952265C>T	uc021ouh.1	-	3	756	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E152K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E218K|PDE4DIP_uc001emd.2_Missense_Mutation_p.E152K|PDE4DIP_uc001emc.2_Missense_Mutation_p.E152K|PDE4DIP_uc001emg.2_Missense_Mutation_p.E152K|PDE4DIP_uc021oui.1_Missense_Mutation_p.E155K|PDE4DIP_uc021ouj.1_Missense_Mutation_p.E120K|PDE4DIP_uc001emh.3_Missense_Mutation_p.E289K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	152					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTACATCTTCCCAGTTTTTG	0.537000			T	PDGFRB	MPD									86			17		0	0	0.000409698	0	0
NUP214	8021	broad.mit.edu	37	9	134016001	134016001	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:134016001C>T	uc004cag.3	+	10	1309	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	NUP214_uc004cah.3_Missense_Mutation_p.P400S|NUP214_uc004caf.1_Missense_Mutation_p.P400S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	400					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGTGCTTTGTCCATTTTATAT	0.383000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									59			39		0	0	0.000319135	0	0
POM121	9883	broad.mit.edu	37	7	72418883	72418884	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:72418883_72418884CC>TT	uc010lam.1	+	15	3915_3916	c.2874_2875CC>TT	c.(2872-2877)caccag>caTTag	p.Q959*	NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003two.3_3'UTR|NSUN5P2_uc003twn.3_3'UTR|NSUN5P2_uc003twm.3_3'UTR|NSUN5P2_uc003twp.3_3'UTR|NSUN5P2_uc003twq.3_3'UTR|NSUN5P2_uc010lan.2_3'UTR	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	998	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTTTGCTCACCAGCAAGAACA	0.475000														22			27		0	0	6.4e-05	0	0
PLG	5340	broad.mit.edu	37	6	161123349	161123349	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:161123349G>A	uc003qtm.4	+	0	125	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	PLG_uc021zhr.1_Missense_Mutation_p.E5K	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	5					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAACATAAGGAAGTGGTTCT	0.368000														17			38		0	0	0.000147903	0	0
FAM124A	220108	broad.mit.edu	37	13	51825617	51825617	+	Silent	SNP	T	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:51825617T>A	uc001vff.2	+	3	390	c.222T>A	c.(220-222)gtT>gtA	p.V74V	FAM124A_uc001vfe.3_Silent_p.V38V|FAM124A_uc001vfg.2_Silent_p.V38V	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	38								p.S73S(1)|p.V74I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCTTTCCGTTGAAGAGGCGC	0.517000														66			7		0	0	3.86212e-05	0	0
HSPA2	3306	broad.mit.edu	37	14	65008605	65008605	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:65008605C>T	uc001xhj.3	+	1	1114	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	HSPA2_uc001xhk.4_Silent_p.I346I	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	346					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACTCGTATCCCCAAGATCC	0.642000														21			19		0	0	9.7654e-05	0	0
CCDC33	80125	broad.mit.edu	37	15	74536355	74536355	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:74536355C>T	uc002axo.3	+	1	445	c.51C>T	c.(49-51)atC>atT	p.I17I		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	220							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCCCTGATCGCCTCCCAGA	0.557000														35			18		0	0	0.000375601	0	0
ATMIN	23300	broad.mit.edu	37	16	81077159	81077159	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:81077159C>T	uc002ffz.1	+	3	1074	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ATMIN_uc002fga.2_Silent_p.I194I|ATMIN_uc010vnn.1_Silent_p.I123I|ATMIN_uc002fgb.1_Silent_p.I194I	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	352	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAACCCTGATCCTCGGCCTAG	0.512000														28			21		0	0	0.000229342	0	0
TLR4	7099	broad.mit.edu	37	9	120475528	120475528	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:120475528C>T	uc004bjz.3	+	2	1413	c.1122C>T	c.(1120-1122)agC>agT	p.S374S	TLR4_uc004bkb.3_Silent_p.S174S|TLR4_uc004bka.3_Silent_p.S334S	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	374					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S374R(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATCTACCAAGCCTTGAGTTTC	0.388000														9			8		0	0	0.000274275	0	0
TFDP1	7027	broad.mit.edu	37	13	114288278	114288278	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:114288278C>T	uc001vtw.3	+	6	760	c.548C>T	c.(547-549)tCc>tTc	p.S183F	TFDP1_uc010tkd.2_Missense_Mutation_p.S88F|TFDP1_uc010tke.2_Missense_Mutation_p.S88F|TFDP1_uc001vty.4_Missense_Mutation_p.S183F|TFDP1_uc010agx.3_Missense_Mutation_p.S183F	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	183					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACATCATCTCCAAGGAGAAG	0.502000										TSP Lung(29;0.18)				73			9		0	0	0.000442599	0	0
ANK1	286	broad.mit.edu	37	8	41554043	41554043	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:41554043C>T	uc003xok.3	-	25	2882	c.2798G>A	c.(2797-2799)gGc>gAc	p.G933D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.G249D|ANK1_uc003xoi.3_Missense_Mutation_p.G933D|ANK1_uc003xoj.3_Missense_Mutation_p.G933D|ANK1_uc003xol.3_Missense_Mutation_p.G933D|ANK1_uc003xom.3_Missense_Mutation_p.G974D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	933	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G933C(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACTCGCAGGCCGTTGTGGCG	0.662000														2			13		0	0	0.000308642	0	0
MUC16	94025	broad.mit.edu	37	19	9077387	9077387	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9077387C>T	uc002mkp.3	-	2	10263	c.10059G>A	c.(10057-10059)ggG>ggA	p.G3353G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3354	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						CCCCTGTGGTCCCTCCAGTAG	0.483000														48			41		0	0	0.000509022	0	0
UBE4B	10277	broad.mit.edu	37	1	10218481	10218481	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:10218481C>T	uc021ogc.1	+	22	3835	c.3147C>T	c.(3145-3147)acC>acT	p.T1049T	UBE4B_uc001aqs.4_Silent_p.T998T|UBE4B_uc001aqr.4_Silent_p.T869T|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.T453T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	998					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.S1048F(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATATTAGCACCATTTTTAAAA	0.428000														6			69		0	0	0.000147903	0	0
FBXO30	84085	broad.mit.edu	37	6	146127255	146127255	+	Missense_Mutation	SNP	C	T	T	rs147203065		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:146127255C>T	uc003qla.3	-	1	486	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	96							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTGGCCATCGATTCCATTC	0.433000														23			9		0	0	3.86212e-05	0	0
EXOSC5	56915	broad.mit.edu	37	19	41903196	41903196	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:41903196G>A	uc002oqo.3	-	0	61	c.38C>T	c.(37-39)gCt>gTt	p.A13V	BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	13					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCCATTTTCAGCACGGATTTT	0.647000														54			25		0	0	0.000117367	0	0
RPL36A-HNRNPH2	100529097	broad.mit.edu	37	X	100645981	100645981	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:100645981C>T	uc022cag.1	+	0	104	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S	RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.P20S|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.P20S|RPL36A-HNRNPH2_uc004ehk.3_5'UTR	NM_001199973	NP_001186902			Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA.																		CTATATACTTCCGTTTGCCTC	0.567000											OREG0019892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			23		0	0	0.00047179	0	0
STAB2	55576	broad.mit.edu	37	12	104123987	104123987	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:104123987C>T	uc001tjw.3	+	48	5362	c.5176C>T	c.(5176-5178)Ccc>Tcc	p.P1726S	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1726					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTATCTCCCAAAAATTT	0.358000														67			41		0	0	0.000319135	0	0
GRIA1	2890	broad.mit.edu	37	5	153190584	153190584	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:153190584G>A	uc011dcy.2	+	16	2578	c.2551_splice	c.e16-1	p.G851_splice	GRIA1_uc003lva.4_Splice_Site_p.G841_splice|GRIA1_uc003luy.4_Splice_Site_p.G841_splice|GRIA1_uc003luz.4_Splice_Site_p.G746_splice|GRIA1_uc011dcv.2_Splice_Site|GRIA1_uc011dcw.2_Splice_Site_p.G761_splice|GRIA1_uc011dcx.2_Splice_Site_p.G772_splice|GRIA1_uc011dcz.2_Splice_Site_p.G851_splice	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	841					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCTGAAAAGGGTTTTTGTT	0.557000														8			34		0	0	0.00058488	0	0
abParts	0	broad.mit.edu	37	14	106877770	106877770	+	RNA	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:106877770C>T	uc021ser.1	-	409		c.13155G>A								Parts of antibodies, mostly variable regions.																		ACTCCCAATCCACTCCAGCCC	0.562000														42			17		0	0	0.000422831	0	0
KIF21B	23046	broad.mit.edu	37	1	200973950	200973950	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:200973950G>A	uc001gvs.2	-	5	1161	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	KIF21B_uc009wzl.2_Missense_Mutation_p.R282W|KIF21B_uc001gvr.2_Missense_Mutation_p.R282W|KIF21B_uc010ppn.2_Missense_Mutation_p.R282W|KIF21B_uc001gvt.1_Missense_Mutation_p.R65W	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	282	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCCCTGTCCGCTTCAGCCGC	0.602000														26			30		0	0	0.000279167	0	0
C17orf66	256957	broad.mit.edu	37	17	34190533	34190533	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:34190533C>T	uc002hke.1	-	6	747	c.598G>A	c.(598-600)Gag>Aag	p.E200K	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E160K|C17orf66_uc010wcm.1_Missense_Mutation_p.E166K	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	200							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CGGTAGGCCTCGTACTTCACT	0.488000														45			13		0	0	0.000308642	0	0
GLYAT	10249	broad.mit.edu	37	11	58477615	58477615	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:58477615G>A	uc001nnb.3	-	5	670	c.515C>T	c.(514-516)tCc>tTc	p.S172F	GLYAT_uc001nnc.3_3'UTR	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	AACATCCATGGATGAGAGTTT	0.413000														1			15		0	0	0.000566183	0	0
FAM135B	51059	broad.mit.edu	37	8	139165247	139165247	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:139165247G>A	uc003yuy.3	-	12	1642	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y	FAM135B_uc003yux.3_Missense_Mutation_p.H392Y|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.H53Y|FAM135B_uc003yvb.3_Missense_Mutation_p.H53Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	491										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGTCCATATGATTTTGTGTG	0.418000										HNSCC(54;0.14)				6			43		0	0	0.000147903	0	0
SCML2	10389	broad.mit.edu	37	X	18276320	18276320	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:18276320G>A	uc004cyl.2	-	9	1274	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P373S|SCML2_uc011miz.1_Missense_Mutation_p.P307S|SCML2_uc010nfc.2_Missense_Mutation_p.P109S	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	373					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ATTCTCTTGGGATCCAGATGA	0.478000														44			21		0	0	0.000375601	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606113	21606113	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:21606113T>A	uc003cce.3	-	2	637	c.229A>T	c.(229-231)Aag>Tag	p.K77*	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	77						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATGATTTGCTTTCTTCGGTGG	0.323000														34			22		0	0	0.000586117	0	0
ACR	49	broad.mit.edu	37	22	51178259	51178259	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:51178259G>A	uc003bnh.4	+	2	431	c.419G>A	c.(418-420)gGa>gAa	p.G140E	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.G140E	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	140	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GCGACAGAGGGAAATGACATT	0.507000														34			42		0	0	0.000147903	0	0
LYN	4067	broad.mit.edu	37	8	56864528	56864528	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:56864528G>C	uc003xsk.4	+	6	773	c.491G>C	c.(490-492)aGc>aCc	p.S164T	LYN_uc003xsl.4_Missense_Mutation_p.S143T	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	164	SH2.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CCCATAGGAAGCTTCTCTCTG	0.373000														15			74		0	0	0.000147903	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				13			97		0	0	0.000147903	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686463	3686463	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:3686463C>T	uc002wja.3	-	2	634	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G212S|SIGLEC1_uc002wjc.3_Missense_Mutation_p.G123S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	212	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGATCCGGCCGTGGTCCTGC	0.622000														57			54		0	0	0.000147903	0	0
OR11L1	391189	broad.mit.edu	37	1	248004278	248004278	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:248004278C>T	uc001idn.1	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACCACATTTCCTTCTCATGA	0.383000														104			55		0	0	0.000147903	0	0
TGM7	116179	broad.mit.edu	37	15	43571423	43571423	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:43571423C>T	uc001zrf.1	-	10	1736	c.1731G>A	c.(1729-1731)acG>acA	p.T577T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTTTTCGTCCGTTAGCTTGT	0.527000														16			13		0	0	0.000151284	0	0
USH2A	7399	broad.mit.edu	37	1	215901637	215901637	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:215901637G>A	uc001hku.1	-	60	12188	c.11801C>T	c.(11800-11802)cCt>cTt	p.P3934L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3934	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTGTGAAAGGCCTCAGGGT	0.478000										HNSCC(13;0.011)				7			79		0	0	0.000147903	0	0
GALNT4	8693	broad.mit.edu	37	12	89917923	89917924	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:89917923_89917924GG>AA	uc001tbd.3	-	0	660_661	c.403_404CC>TT	c.(403-405)cct>TTt	p.P135F	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P132F|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	135	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AGAGGTGGTAGGAAGTGTCCTA	0.406000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			19		0	0	6.4e-05	0	0
FUZ	80199	broad.mit.edu	37	19	50314945	50314945	+	Silent	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:50314945C>A	uc002ppq.2	-	3	534	c.330G>T	c.(328-330)gtG>gtT	p.V110V	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Silent_p.V74V|FUZ_uc010ybd.2_Silent_p.V110V	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	110					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CTTCAAGTCCCACAAGAAGGA	0.537000														174			8		0.000442599	0.00721301	0.000442599	1	0
ACOX3	8310	broad.mit.edu	37	4	8417696	8417696	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:8417696G>A	uc010idk.3	-	2	320	c.175C>T	c.(175-177)Cct>Tct	p.P59S	ACOX3_uc003glc.4_Missense_Mutation_p.P59S|ACOX3_uc003gld.4_Missense_Mutation_p.P59S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	59					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGAAAAGAGGGTCATTCTCA	0.478000														51			11		0	0	0.00010058	0	0
CRHBP	1393	broad.mit.edu	37	5	76249874	76249874	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:76249874C>T	uc003ker.3	+	2	476	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	CRHBP_uc010izx.3_Missense_Mutation_p.L66F	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	66					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CATGCTGAGCCTCCAGGGCCA	0.687000														22			138		0	0	0.000147903	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907975	164907975	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:164907975C>T	uc003fej.4	-	1	1088	c.644G>A	c.(643-645)gGa>gAa	p.G215E	SLITRK3_uc003fek.3_Missense_Mutation_p.G215E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G215E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	215						integral to membrane		p.R214L(2)|p.R214R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATCTAGCATTCCTCGGTAAAA	0.423000										HNSCC(40;0.11)				37			31		0	0	0.000491102	0	0
FLT3	2322	broad.mit.edu	37	13	28608112	28608112	+	Silent	SNP	T	C	C	rs140784892		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:28608112T>C	uc001urw.3	-	14	1936	c.1854A>G	c.(1852-1854)tcA>tcG	p.S618S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.S618S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	618	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAAGCACCTGATCCTAGTA	0.403000			"""Mis, O"""		"""AML, ALL"""									41			117		0	0	0.000147903	0	0
NRP1	8829	broad.mit.edu	37	10	33515208	33515209	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:33515208_33515209CC>TT	uc001iwx.4	-	6	1513_1514	c.990_991GG>AA	c.(988-993)ttgggc>ttAAgc	p.G331S	NRP1_uc001iwv.4_Missense_Mutation_p.G331S|NRP1_uc001iwy.4_Missense_Mutation_p.G331S|NRP1_uc009xlz.3_Missense_Mutation_p.G331S|NRP1_uc001iww.4_Missense_Mutation_p.G150S|NRP1_uc001iwz.2_Missense_Mutation_p.G331S|NRP1_uc001ixa.2_Missense_Mutation_p.G331S|NRP1_uc001ixb.2_Missense_Mutation_p.G331S|NRP1_uc001ixc.1_Missense_Mutation_p.G331S	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	331	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CGCAGAAGGCCCAAGTCTACCT	0.495000														23			9		0	0	6.4e-05	0	0
DDX3X	1654	broad.mit.edu	37	X	41206955	41206955	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:41206955G>T	uc004dfe.3	+	16	2827	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	DDX3X_uc011mks.2_Missense_Mutation_p.D135Y|DDX3X_uc004dff.3_Missense_Mutation_p.D657Y|DDX3X_uc011mkq.2_Missense_Mutation_p.D642Y|DDX3X_uc011mkr.2_Missense_Mutation_p.D528Y|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	658	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCAGGGGGTTGACTGGTGGGG	0.428000										HNSCC(61;0.18)				51			29		3.67414e-24	6.41926e-23	0.000409698	1	0
ABCA3	21	broad.mit.edu	37	16	2329039	2329039	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:2329039C>T	uc002cpy.1	-	28	5164	c.4452G>A	c.(4450-4452)cgG>cgA	p.R1484R	ABCA3_uc010bsk.1_Silent_p.R1426R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1484	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGGGATGCCCCGGAGCCGAG	0.652000														24			14		0	0	0.000422831	0	0
MFNG	4242	broad.mit.edu	37	22	37876786	37876786	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:37876786G>A	uc003ass.2	-	1	540	c.277C>T	c.(277-279)Cca>Tca	p.P93S	MFNG_uc011anj.2_Intron|MFNG_uc011ani.2_Intron|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	93					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CCTTTGTCTGGGCTGTCGGTG	0.612000														14			11		0	0	3.86212e-05	0	0
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:23191380C>T	uc009vqj.1	+	4	1123	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_uc001bge.3_Silent_p.S326S|EPHB2_uc001bgf.3_Silent_p.S326S|EPHB2_uc010odu.2_Silent_p.S326S|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652000														4			25		0	0	0.00047179	0	0
PLCG2	5336	broad.mit.edu	37	16	81942029	81942029	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:81942029C>T	uc002fgt.3	+	16	1744	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	PLCG2_uc010chg.1_Silent_p.P522P	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	522					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGGATATACCCCCTACAGAAC	0.542000														19			13		0	0	0.000422831	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875797	75875797	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:75875797G>A	uc001sxs.3	+	1	506	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	GLIPR1_uc009zsb.1_Missense_Mutation_p.E120K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	120					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGGTATGACGAAATCCAGGA	0.453000														45			14		0	0	0.000219431	0	0
ACVR1	90	broad.mit.edu	37	2	158617533	158617533	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:158617533G>A	uc002tzn.3	-	8	1553	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ACVR1_uc002tzm.3_Missense_Mutation_p.R375C|ACVR1_uc010fog.2_Missense_Mutation_p.R375C	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	375	Protein kinase.		R -> P (in FOP; variant phenotype).		BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding	p.R375C(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GTGCCCACACGGGGATTGTTC	0.483000														12			12		0	0	0.000308642	0	0
KCNV2	169522	broad.mit.edu	37	9	2718835	2718835	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:2718835G>A	uc003zho.2	+	0	1310	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	366						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T365M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGGCCAGACGGTGGGCAGCGT	0.672000														2			18		0	0	0.000229342	0	0
ZNF107	51427	broad.mit.edu	37	7	64167466	64167466	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:64167466C>T	uc003ttd.3	+	6	1570	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	ZNF107_uc003tte.3_Missense_Mutation_p.H262Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCTTACTAACCATAAGAGAAT	0.358000														19			14		0	0	0.000219431	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439717	145439717	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:145439717C>A	uc003lnt.3	+	8	2082	c.1844C>A	c.(1843-1845)cCa>cAa	p.P615Q	SH3RF2_uc011dbl.1_Missense_Mutation_p.P615Q|SH3RF2_uc011dbm.1_Missense_Mutation_p.P100Q|SH3RF2_uc003lnu.3_Missense_Mutation_p.P106Q|SH3RF2_uc011dbn.1_Missense_Mutation_p.P106Q|SH3RF2_uc011dbo.2_Missense_Mutation_p.P72Q	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	615							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTCTGCCAAAACCGCCC	0.552000														43			22		8.24728e-16	1.43232e-14	9.22233e-05	1	0
NOX5	79400	broad.mit.edu	37	15	69340211	69340211	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:69340211C>T	uc002ars.2	+	12	1900	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S574F|NOX5_uc002arp.2_Missense_Mutation_p.S602F|NOX5_uc010bid.2_Missense_Mutation_p.S585F|NOX5_uc010bie.2_Missense_Mutation_p.S420F|NOX5_uc002arr.2_Missense_Mutation_p.S592F|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	620					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCCAGCACTCCTGGATCGAA	0.542000														40			26		0	0	0.000279167	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555130	44555130	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:44555130C>T	uc010xdb.2	-	0	1320	c.1084G>A	c.(1084-1086)Gtt>Att	p.V362I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	362	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S361L(1)|p.S361*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGTTCAAGAACCGAGTAGGGG	0.617000														492			13		0	0	0.000422831	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316117	38316117	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:38316117C>T	uc003chz.3	+	2	559	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	SLC22A13_uc011aym.1_Intron|SLC22A13_uc011ayn.1_Silent_p.L169L	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	169						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCCACAATCCTGGCGCAGCT	0.637000														18			9		0	0	3.86212e-05	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166721	100166721	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:100166721C>T	uc001tge.2	-	7	1524	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.G335G	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	369						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCATTTTTCCCAAGTTCTT	0.408000														50			28		0	0	0.000491102	0	0
ARSG	22901	broad.mit.edu	37	17	66352868	66352868	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:66352868T>G	uc002jhc.2	+	5	1423	c.627T>G	c.(625-627)atT>atG	p.I209M		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	209					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTCAACATTGTGGAGCAGC	0.512000														35			17		0	0	7.07596e-05	0	0
DOCK10	55619	broad.mit.edu	37	2	225630519	225630519	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:225630519C>T	uc010fwz.1	-	55	6719	c.6480G>A	c.(6478-6480)gtG>gtA	p.V2160V	DOCK10_uc002vob.2_Silent_p.V2154V|DOCK10_uc002voa.2_Missense_Mutation_p.G842R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	2160							GTP binding	p.Q2160H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTTTGGTCCACTCCGCGCT	0.488000														11			18		0	0	0.000132079	0	0
FCRLA	84824	broad.mit.edu	37	1	161681011	161681012	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:161681011_161681012CC>TT	uc001gbe.3	+	3	557_558	c.315_316CC>TT	c.(313-318)ctccaa>ctTTaa	p.Q106*	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q100*|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	83	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCTGATCCTCCAAGGTCCAGC	0.589000														2			29		0	0	6.4e-05	0	0
LARP4B	23185	broad.mit.edu	37	10	931637	931638	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:931637_931638CC>TT	uc001ifs.1	-	0	65_66	c.24_25GG>AA	c.(22-27)aaggtt>aaAAtt	p.V9I		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	9							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCAGCCACAACCTTAGCGTCCT	0.515000														31			23		0	0	6.4e-05	0	0
SHROOM3	57619	broad.mit.edu	37	4	77670181	77670182	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:77670181_77670182GG>TT	uc011cbx.2	+	5	4718_4719	c.3765_3766GG>TT	c.(3763-3768)ttgggg>ttTTgg	p.1255_1256LG>FW	SHROOM3_uc003hkg.3_Missense_Mutation_p.1033_1034LG>FW	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1255					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGTGCTTTTGGGGCAAGACAG	0.431000														198			8		0	0	6.4e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62288477	62288477	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:62288477G>T	uc001ntl.3	-	4	13712	c.13412C>A	c.(13411-13413)cCc>cAc	p.P4471H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4471					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACCTTGGGACCTTTCAG	0.463000														136			7		0.000442599	0.00721301	0.000442599	1	0
FAM114A2	10827	broad.mit.edu	37	5	153374484	153374484	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:153374484G>A	uc003lvd.3	-	13	1520	c.1378C>T	c.(1378-1380)Cta>Tta	p.L460L	FAM114A2_uc003lvb.3_Silent_p.L460L|FAM114A2_uc003lve.3_Silent_p.L276L|FAM114A2_uc011dda.2_Silent_p.L390L|FAM114A2_uc003lvc.3_Silent_p.L460L	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	460							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTAACCTCTAGAAATACTGCA	0.328000														4			55		0	0	0.000147903	0	0
FRMD5	84978	broad.mit.edu	37	15	44202087	44202087	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:44202087G>A	uc001ztl.3	-	4	597	c.420C>T	c.(418-420)atC>atT	p.I140I	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.I51I|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	140	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TACCTTGAAGGATGTAAGCTG	0.403000														29			27		0	0	0.000409698	0	0
EVI2B	2124	broad.mit.edu	37	17	29632632	29632632	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:29632632G>A	uc010csq.2	-	2	224	c.41C>T	c.(40-42)tCt>tTt	p.S14F	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_5'UTR|EVI2B_uc021tuk.1_5'Flank	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	0						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ATCCATTTCAGAATATTTCCT	0.323000														32			20		0	0	0.000175454	0	0
DNAH2	146754	broad.mit.edu	37	17	7681746	7681746	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:7681746G>A	uc002giu.1	+	33	5514	c.5500G>A	c.(5500-5502)Gac>Aac	p.D1834N		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1834	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGGCCTGGACTACAAGTC	0.567000														5			16		0	0	0.000566183	0	0
DOPEY2	9980	broad.mit.edu	37	21	37600017	37600017	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr21:37600017C>T	uc002yvg.3	+	12	1586	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	DOPEY2_uc011aeb.2_Missense_Mutation_p.P503S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	503					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAGTATCTCCCTCAGGTGCT	0.478000														28			25		0	0	0.000117367	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834907	27834907	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:27834907G>A	uc003njx.3	-	0	453	c.401C>T	c.(400-402)cCc>cTc	p.P134L		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GGCCCCCGCGGGCTTCTTAGC	0.617000														19			132		0	0	0.000147903	0	0
PCDH8	5100	broad.mit.edu	37	13	53418908	53418909	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:53418908_53418909CC>TT	uc001vhi.3	-	2	3203_3204	c.2999_3000GG>AA	c.(2998-3000)agg>aAA	p.R1000K	PCDH8_uc001vhj.3_Missense_Mutation_p.R903K	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	1000					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTAATTGTCCCTGCGCAGAGG	0.579000														34			5		0	0	6.4e-05	0	0
STARD3	10948	broad.mit.edu	37	17	37818531	37818531	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:37818531C>T	uc002hsd.3	+	13	1370	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	STARD3_uc010wei.2_Silent_p.I389I|STARD3_uc002hse.3_Silent_p.I371I|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Silent_p.I255I	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	389	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGGCTTCATCGTGCTCAAGT	0.587000														8			11		0	0	0.000151284	0	0
SMEK2	57223	broad.mit.edu	37	2	55826001	55826001	+	Missense_Mutation	SNP	G	T	T	rs143951318		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:55826001G>T	uc002rzc.3	-	3	1164	c.472C>A	c.(472-474)Cgt>Agt	p.R158S	SMEK2_uc002rzb.3_Missense_Mutation_p.R158S|SMEK2_uc002rzd.3_Missense_Mutation_p.R158S|SMEK2_uc002rza.3_Missense_Mutation_p.R34S	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	158						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTTCCCTACGGATAGGTGAG	0.433000														124			7		0.000157383	0.00263878	0.000157383	1	0
LPP	4026	broad.mit.edu	37	3	188327486	188327486	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:188327486C>T	uc003frs.2	+	5	1213	c.967C>T	c.(967-969)Cca>Tca	p.P323S	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.P323S|LPP_uc003frt.3_Missense_Mutation_p.P323S|LPP_uc011bsj.2_Missense_Mutation_p.P160S	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	323	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACAAGGTCACCCAAATACCTG	0.542000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									14			13		0	0	0.000308642	0	0
ADCY8	114	broad.mit.edu	37	8	131812710	131812710	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:131812710G>A	uc003ytd.4	-	14	3278	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L	ADCY8_uc010mds.3_Silent_p.L877L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1008					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGCAAGCGCAGGCATTCCACT	0.443000										HNSCC(32;0.087)				14			86		0	0	0.000147903	0	0
RBM28	55131	broad.mit.edu	37	7	127963633	127963633	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:127963633C>A	uc003vmp.2	-	12	1466	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	RBM28_uc011koj.1_Missense_Mutation_p.G310W	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	451					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCCTTCGTCCCAGCACGAATC	0.463000														128			7		8.12818e-05	0.0013747	8.12818e-05	1	0
PRDM11	56981	broad.mit.edu	37	11	45246334	45246334	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:45246334C>T	uc001myo.3	+	7	1660	c.1411C>T	c.(1411-1413)Cct>Tct	p.P471S		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	471										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGGGAAACTTCCTGAGCCCCC	0.512000														11			75		0	0	0.000147903	0	0
ENPP1	5167	broad.mit.edu	37	6	132206095	132206095	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:132206095C>T	uc011ecf.2	+	22	2356	c.2336C>T	c.(2335-2337)aCc>aTc	p.T779I		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	779	Nuclease.		T -> P (in dbSNP:rs1805138).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTCATGACACCCTACTGCGA	0.393000														6			22		0	0	9.22233e-05	0	0
SMPD4	55627	broad.mit.edu	37	2	130910948	130910948	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:130910948G>A	uc002tqq.2	-	17	3235	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	SMPD4_uc002tqo.2_Missense_Mutation_p.P228S|SMPD4_uc002tqp.2_Missense_Mutation_p.P435S|SMPD4_uc010yzy.2_Missense_Mutation_p.P445S|SMPD4_uc010yzz.2_Missense_Mutation_p.P360S|SMPD4_uc002tqs.2_Missense_Mutation_p.P564S|SMPD4_uc002tqr.2_Missense_Mutation_p.P667S|SMPD4_uc010zaa.2_Missense_Mutation_p.P554S|SMPD4_uc010zab.2_Missense_Mutation_p.P594S|SMPD4_uc002tqt.2_Missense_Mutation_p.P545S|SMPD4_uc010zac.2_Missense_Mutation_p.P437S|SMPD4_uc010zad.2_Missense_Mutation_p.P332S	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	657					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGCAGTCGGGGAGTTGCTTT	0.627000														25			17		0	0	0.000566183	0	0
FSHR	2492	broad.mit.edu	37	2	49381553	49381554	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:49381553_49381554CC>TT	uc002rww.3	-	0	113_114	c.3_4GG>AA	c.(1-6)atggcc>atAAcc	p.1_2MA>IT	FSHR_uc010fbn.3_Missense_Mutation_p.1_2MA>IT|FSHR_uc002rwx.3_Missense_Mutation_p.1_2MA>IT|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	1					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGAGCAGGGCCATAATTATGC	0.485000									Gonadal Dysgenesis, 46 XX					6			6		0	0	6.4e-05	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223993	142223993	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:142223993C>T	uc003vyi.2	-	1	191	c.174G>A	c.(172-174)ctG>ctA	p.L58L	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGCCCTGTCCCAGGATCTGCC	0.488000														19			17		0	0	0.000175454	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422873	37422873	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:37422873G>A	uc021ppc.1	+	4	578	c.479G>A	c.(478-480)gGa>gAa	p.G160E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G160E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTATGTCATGGATCATCAGAG	0.378000														69			47		0	0	0.000147903	0	0
NCAPD3	23310	broad.mit.edu	37	11	134050977	134050977	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:134050977G>A	uc001qhd.1	-	19	3160	c.2554C>T	c.(2554-2556)Ctg>Ttg	p.L852L	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	852					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTACCAACAGGTCTTCGTCC	0.458000														3			27		0	0	0.000279167	0	0
BMX	660	broad.mit.edu	37	X	15540570	15540570	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:15540570C>T	uc004cww.3	+	6	800	c.612C>T	c.(610-612)tcC>tcT	p.S204S	BMX_uc004cwx.4_Silent_p.S204S|BMX_uc004cwy.4_Silent_p.S204S	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	204					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACTATGGCTCCCAGCCACCAT	0.443000														27			28		0	0	0.000184323	0	0
XIRP2	129446	broad.mit.edu	37	2	168105186	168105186	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:168105186A>C	uc002udx.3	+	8	7373	c.7284A>C	c.(7282-7284)aaA>aaC	p.K2428N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2253N|XIRP2_uc010fpq.3_Missense_Mutation_p.K2206N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2253					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAACCCAAACTTCCCAAGC	0.408000														56			6		0	0	0.000157383	0	0
C18orf54	162681	broad.mit.edu	37	18	51888373	51888373	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:51888373C>T	uc002lfo.4	+	1	690	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C18orf54_uc002lfn.4_Intron	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	214						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTTCTGAATCATCTTTGTCT	0.363000														5			12		0	0	0.00010058	0	0
FBXL5	26234	broad.mit.edu	37	4	15627231	15627231	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr4:15627231A>C	uc003goc.2	-	8	1619	c.1494T>G	c.(1492-1494)caT>caG	p.H498Q	FBXL5_uc010idw.2_Missense_Mutation_p.H411Q|FBXL5_uc003gob.2_Missense_Mutation_p.H360Q|FBXL5_uc010idx.2_Missense_Mutation_p.H497Q|FBXL5_uc003god.2_Missense_Mutation_p.H481Q|FBXL5_uc010idy.2_Missense_Mutation_p.H498Q	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	498					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CAACATTTCTATGTCTCCATT	0.388000														37			52		0	0	0.000147903	0	0
BSN	8927	broad.mit.edu	37	3	49699732	49699732	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:49699732C>T	uc003cxe.4	+	5	10568	c.10454C>T	c.(10453-10455)tCc>tTc	p.S3485F		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3485					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGCCCTCATCCCTAAGTATG	0.652000														8			11		0	0	3.86212e-05	0	0
NOC2L	26155	broad.mit.edu	37	1	892575	892575	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:892575G>A	uc009vjq.3	-	2	317	c.258C>T	c.(256-258)ttC>ttT	p.F86F	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.F86F	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	86						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTCCTGCAGGAACTTGTAGA	0.587000														4			65		0	0	0.000147903	0	0
BAP1	8314	broad.mit.edu	37	3	52436850	52436850	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:52436850A>G	uc003ddx.3	-	14	2043	c.1928T>C	c.(1927-1929)aTt>aCt	p.I643T	BAP1_uc003ddw.3_Non-coding_Transcript|BAP1_uc010hmg.3_Non-coding_Transcript|BAP1_uc010hmh.3_Non-coding_Transcript	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	643	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATAGTTTGCAATCTCAGCCTC	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								47			35		0	0	0.000147903	0	0
C10orf11	83938	broad.mit.edu	37	10	77795790	77795790	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:77795790C>T	uc001jxi.3	+	1	287	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN	Homo sapiens chromosome 10 open reading frame 11 (C10orf11), mRNA.	24										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TGAGCGCATTCAGGAGCCTGG	0.483000											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			28		0	0	0.00058488	0	0
OR52J3	119679	broad.mit.edu	37	11	5068212	5068212	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5068212C>T	uc010qyv.2	+	0	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468000														2			14		0	0	0.000219431	0	0
WEE1	7465	broad.mit.edu	37	11	9597474	9597474	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:9597474G>T	uc001mhs.3	+	1	869	c.616G>T	c.(616-618)Gtt>Ttt	p.V206F	WEE1_uc001mht.3_5'UTR|WEE1_uc001mhu.3_5'UTR	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	206					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTCCAGCTCTGTTAAACTCCG	0.393000														8			37		1.15505e-17	2.012e-16	0.000437636	1	0
CAMKV	79012	broad.mit.edu	37	3	49898722	49898722	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:49898722C>T	uc003cxt.1	-	5	646	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CAMKV_uc011bcy.1_Silent_p.L76L|CAMKV_uc003cxv.1_Silent_p.L151L|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.L151L|CAMKV_uc011bcz.1_Silent_p.L114L|CAMKV_uc011bda.1_Silent_p.L108L|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	151	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTAGTAAACCAGGTTCTCCA	0.547000														31			16		0	0	0.000132079	0	0
OR7G3	390883	broad.mit.edu	37	19	9237442	9237442	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9237442A>G	uc010xkl.2	-	0	185	c.185T>C	c.(184-186)cTc>cCc	p.L62P		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GATAGAGAGGAGGAAGTACAT	0.537000														38			34		0	0	0.000132358	0	0
RC3H1	149041	broad.mit.edu	37	1	173930261	173930261	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:173930261G>A	uc010pmt.2	-	11	2411	c.2324C>T	c.(2323-2325)cCt>cTt	p.P775L	RC3H1_uc001gju.4_Missense_Mutation_p.P775L|RC3H1_uc010pms.2_Missense_Mutation_p.P775L|RC3H1_uc001gjv.3_Missense_Mutation_p.P775L	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	775	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.P775S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGTGCAAAAGGAGGTGGAGA	0.463000														12			100		0	0	0.000147903	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277518	105277518	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:105277518C>T	uc010npd.3	-	3	1456	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	SERPINA7_uc004eme.2_Silent_p.G407G	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	407					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCACAACTTTCCCTAGAAAGA	0.388000														7			54		0	0	0.000147903	0	0
LTBP2	4053	broad.mit.edu	37	14	75016658	75016658	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:75016658G>A	uc001xqa.3	-	7	2084	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	566	TB 1.				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)		CTCCAGCAGAGGGTTGGCACA	0.627000														15			8		0	0	0.000442599	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309722	22309722	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:22309722C>T	uc001wbx.2	+	1	207	c.106C>T	c.(106-108)Cca>Tca	p.P36S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232.																		CTTCAATGTTCCAGAGGGAGC	0.488000														9			7		0	0	8.12818e-05	0	0
OR6B1	135946	broad.mit.edu	37	7	143701701	143701701	+	Silent	SNP	G	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143701701G>T	uc003wdt.1	+	0	612	c.612G>T	c.(610-612)ctG>ctT	p.L204L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTGGCACTGGTCATCTTCC	0.458000														104			6		0.000157383	0.00263878	0.000157383	1	0
SDPR	8436	broad.mit.edu	37	2	192700881	192700881	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:192700881C>T	uc002utb.3	-	1	1401	c.1046G>A	c.(1045-1047)gGg>gAg	p.G349E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	349						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGCAATTTCCCCTTCCACCAG	0.562000														38			46		0	0	0.000147903	0	0
GAB4	128954	broad.mit.edu	37	22	17472893	17472893	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:17472893C>T	uc002zlw.3	-	1	456	c.348G>A	c.(346-348)caG>caA	p.Q116Q	GAB4_uc010gqs.1_Silent_p.Q116Q	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	116	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TATAGCCCTTCTGAATCTCCT	0.498000														92			66		0	0	0.000147903	0	0
ZNF700	90592	broad.mit.edu	37	19	12087920	12087920	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:12087920C>T	uc010xmf.2	+	1	257	c.131C>T	c.(130-132)tCg>tTg	p.S44L	ZNF700_uc002msv.3_Missense_Mutation_p.S27L|ZNF700_uc002msw.3_Missense_Mutation_p.S24L|ZNF700_uc010xmg.2_Intron	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S26L(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTGGATATTTCGCAGAGGAAA	0.493000														56			56		0	0	0.000147903	0	0
ATP4A	495	broad.mit.edu	37	19	36050767	36050767	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:36050767C>T	uc002oal.1	-	6	1025	c.996G>A	c.(994-996)atG>atA	p.M332I	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	332					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A331A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGAAGAAGACCATGGCCCGCA	0.597000														14			14		0	0	0.000219431	0	0
PRCC	5546	broad.mit.edu	37	1	156756574	156756574	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:156756574C>T	uc001fqa.3	+	2	981	c.691C>T	c.(691-693)Cct>Tct	p.P231S		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	231					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTCTTGCCCCTGTTGTGGG	0.587000			T	TFE3	papillary renal									49			32		0	0	0.000491102	0	0
SFPQ	6421	broad.mit.edu	37	1	35652667	35652667	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:35652667C>G	uc001bys.3	-	8	2014	c.1921G>C	c.(1921-1923)Ggt>Cgt	p.G641R		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	641	Poly-Gly.				DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|nucleotide binding|protein binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTTCATAACCTATGCCACCA	0.463000			T	TFE3	papillary renal cell									65			5		0	0	0.000602214	0	0
EXOSC1	51013	broad.mit.edu	37	10	99197027	99197027	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:99197027G>A	uc001kni.3	-	6	428	c.402C>T	c.(400-402)tcC>tcT	p.S134S	EXOSC1_uc009xvp.1_Non-coding_Transcript	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN	Homo sapiens exosome component 1 (EXOSC1), mRNA.	134	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	RNA binding|protein binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CATCACCTAAGGAGATCTAGT	0.488000														39			34		0	0	0.000491102	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310824	75310824	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:75310824C>T	uc002azn.2	+	5	672	c.485C>T	c.(484-486)cCc>cTc	p.P162L	SCAMP5_uc002azl.2_Missense_Mutation_p.P154L|SCAMP5_uc002azm.2_Missense_Mutation_p.P154L|SCAMP5_uc002azk.2_Missense_Mutation_p.P154L|SCAMP5_uc010uly.2_Missense_Mutation_p.P83L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	154					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATGCTAATTCCCACTGTCATG	0.582000														102			59		0	0	0.000147903	0	0
PAGE2B	389860	broad.mit.edu	37	X	55116953	55116953	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:55116953G>A	uc004duf.1	+	2	151	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PAGE2B_uc022bxk.1_Intron	NM_207339	NP_997222	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2 (prostate associated) (PAGE2), mRNA.	35										lung(3)	3						GCCCACTGAGGAAAAACGTCA	0.418000														14			18		0	0	0.000229342	0	0
RGL4	266747	broad.mit.edu	37	22	24034331	24034331	+	Silent	SNP	G	A	A	rs148535347	byFrequency	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:24034331G>A	uc002zxo.3	+	0	1371	c.114G>A	c.(112-114)acG>acA	p.T38T	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.T38T|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	38					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGGGCGCACGAGGGTCTGTA	0.602000														25			20		0	0	0.000175454	0	0
FAM162A	26355	broad.mit.edu	37	3	122121620	122121620	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:122121620G>C	uc003eez.3	+	1	138	c.48G>C	c.(46-48)agG>agC	p.R16S	FAM162A_uc011bjq.1_Missense_Mutation_p.R16S	NM_014367	NP_055182	Q96A26	F162A_HUMAN	Homo sapiens family with sequence similarity 162, member A (FAM162A), mRNA.	16						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GCTGTTTTAGGTTATGTGAAA	0.353000														30			15		0	0	7.07596e-05	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431231	56431231	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:56431231G>A	uc010rjm.2	+	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CCCTCAGATGGAGATCATCTT	0.423000														10			51		0	0	0.000147903	0	0
COL5A3	50509	broad.mit.edu	37	19	10103516	10103517	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:10103516_10103517GG>AA	uc002mmq.1	-	20	1920_1921	c.1834_1835CC>TT	c.(1834-1836)ccc>TTc	p.P612F		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	612	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCGACCCGTGGGGCCAGGAGAG	0.589000														12			12		0	0	6.4e-05	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390362	61390362	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr18:61390362C>T	uc002ljk.4	+	8	1076	c.905C>T	c.(904-906)tCt>tTt	p.S302F	SERPINB11_uc010xes.2_Missense_Mutation_p.S128F|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.S189F|SERPINB11_uc010dqe.3_Missense_Mutation_p.S102F|SERPINB11_uc010dqf.3_Missense_Mutation_p.S101F	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	303					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTGTTAAAATCTCTAGGGGTG	0.418000														5			3		0	0	0.000602214	0	0
FBXO40	51725	broad.mit.edu	37	3	121340930	121340930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:121340930G>A	uc003eeg.2	+	2	864	c.654G>A	c.(652-654)tgG>tgA	p.W218*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	218					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTGGCCAGTGGGAAAATATTT	0.463000														42			13		0	0	0.000422831	0	0
ZNF683	257101	broad.mit.edu	37	1	26688454	26688454	+	Silent	SNP	G	A	A	rs146588417	byFrequency	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:26688454G>A	uc001bmg.1	-	6	1381	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	ZNF683_uc001bmh.1_Silent_p.S401S|ZNF683_uc009vsj.1_Silent_p.S401S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCCGGGCCCCGGAGTGCAGGC	0.647000														5			27		0	0	9.22233e-05	0	0
DISP2	85455	broad.mit.edu	37	15	40660891	40660892	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:40660891_40660892GG>AA	uc001zlk.1	+	7	2667_2668	c.2578_2579GG>AA	c.(2578-2580)ggc>AAc	p.G860N		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	860					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTCTGCTGCGGCCACTCGGAC	0.673000														11			10		0	0	6.4e-05	0	0
FFAR2	2867	broad.mit.edu	37	19	35941380	35941380	+	Missense_Mutation	SNP	G	T	T	rs150050074		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:35941380G>T	uc002nzg.2	+	1	844	c.764G>T	c.(763-765)cGg>cTg	p.R255L	FFAR2_uc010eea.3_Missense_Mutation_p.R255L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	255						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCTGGTGGCGGTCAATAGCC	0.572000														41			6		3.59834e-05	0.000613933	3.59834e-05	1	0
NBAS	51594	broad.mit.edu	37	2	15567905	15567905	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:15567905A>G	uc002rcc.1	-	21	2379	c.2353T>C	c.(2353-2355)Tcc>Ccc	p.S785P	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	785										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCATCAGGGAGTCACCGTTA	0.403000														16			4		0	0	0.000602214	0	0
NLRP9	338321	broad.mit.edu	37	19	56249681	56249681	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:56249681C>T	uc002qly.3	-	0	88	c.60G>A	c.(58-60)aaG>aaA	p.K20K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	20	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAACTCTTCCTTTCTGAGCT	0.453000														87			64		0	0	0.000147903	0	0
GABRQ	55879	broad.mit.edu	37	X	151818324	151818324	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:151818324G>A	uc004ffp.1	+	5	750	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	244						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TACTAGCAAGGAGGTGTATTT	0.498000														45			32		0	0	0.000228196	0	0
XYLT1	64131	broad.mit.edu	37	16	17202607	17202607	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:17202607C>T	uc002dfa.3	-	11	2910	c.2825G>A	c.(2824-2826)aGc>aAc	p.S942N		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	942					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGTCAGGGCTGAAGGAGCT	0.652000														11			5		0	0	0.000602214	0	0
SNORD114-21	767599	broad.mit.edu	37	14	101448313	101448313	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:101448313G>A	uc001yjl.3	+	1		c.1_splice	c.e1-1		SNORD114-22_uc001yjm.3_5'Flank					Homo sapiens small nucleolar RNA, C/D box 114-21 (SNORD114-21), small nucleolar RNA.																		GGCCATTCCTGGATCAATGAT	0.398000														20			16		0	0	7.07596e-05	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930178	45930178	+	Silent	SNP	G	T	T	rs142789241		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:45930178G>T	uc003tnp.3	+	1	674	c.381G>T	c.(379-381)acG>acT	p.T127T		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	127						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						CAGAGAGCACGGAGATAACTG	0.552000														63			6		0.000157383	0.00263878	0.000157383	1	0
ADARB2	105	broad.mit.edu	37	10	1279705	1279705	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:1279705G>A	uc009xhq.3	-	5	1770	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	482	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACGTAGAGATGGAAGAGGATG	0.547000														39			33		0	0	0.000339439	0	0
ZBBX	79740	broad.mit.edu	37	3	167000284	167000284	+	Splice_Site	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:167000284C>A	uc011bpc.2	-	20	2334	c.1997_splice	c.e20-1	p.G666_splice	ZBBX_uc003feq.3_Splice_Site_p.G598_splice|ZBBX_uc003fep.3_Splice_Site_p.G627_splice	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	627	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GATTTCTGACCTAAAATTAAA	0.338000														154			9		0.000442599	0.00721301	0.000442599	1	0
OR2A5	393046	broad.mit.edu	37	7	143747652	143747652	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143747652G>A	uc011ktw.2	+	0	158	c.158G>A	c.(157-159)aGa>aAa	p.R53K		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGGACTCCAGACTGCACACC	0.512000														24			17		0	0	9.7654e-05	0	0
GRM7	2917	broad.mit.edu	37	3	7620310	7620310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr3:7620310C>T	uc003bqm.2	+	7	1991	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.R573*|GRM7_uc003bql.2_Nonsense_Mutation_p.R573*|GRM7_uc003bqn.1_Nonsense_Mutation_p.R156*|GRM7_uc010hch.1_Nonsense_Mutation_p.R84*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	573					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGAAAATCGAACCGGATG	0.522000														24			18		0	0	0.000132079	0	0
FASTKD5	60493	broad.mit.edu	37	20	3129453	3129453	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:3129453G>A	uc021vzx.1	-	0	264	c.264C>T	c.(262-264)gcC>gcT	p.A88A	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.A88A	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	88					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCAATGTACTGGCCTTAGAGG	0.473000														48			34		0	0	0.000159656	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														33			5		0	0	0.000602214	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77222236	77222236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:77222236G>A	uc001syk.1	+	9	1270	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	369					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						CCAAATTCTGGATGTATGTGA	0.318000														158			114		0	0	0.000147903	0	0
OR4K13	390433	broad.mit.edu	37	14	20502103	20502103	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:20502103G>A	uc010tkz.2	-	0	815	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTAAAACACAGAAAGAATTTT	0.363000														14			18		0	0	0.000566183	0	0
WSCD2	9671	broad.mit.edu	37	12	108589838	108589838	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:108589838C>T	uc001tms.3	+	1	973	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	WSCD2_uc001tmt.3_Missense_Mutation_p.R77W	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	77						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGAGGTTTCCGGGACACAGG	0.617000														50			62		0	0	0.000147903	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068387	89068387	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr14:89068387G>A	uc001xww.3	+	10	1699	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZC3H14_uc010twd.2_Missense_Mutation_p.D492N|ZC3H14_uc010twe.2_Missense_Mutation_p.D492N|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Missense_Mutation_p.D37N|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	492						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GAAGACTGCAGATTCCCTTCG	0.428000														121			19		0	0	0.000375601	0	0
IPO9	55705	broad.mit.edu	37	1	201823789	201823789	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:201823789C>A	uc001gwz.3	+	6	807	c.757C>A	c.(757-759)Cag>Aag	p.Q253K		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	253					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCAGGCCCTCCAGATACCAGA	0.473000														153			7		0.000274275	0.00455924	0.000274275	1	0
DSE	29940	broad.mit.edu	37	6	116752185	116752185	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:116752185C>T	uc011ebg.2	+	3	895	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F	DSE_uc003pws.3_Missense_Mutation_p.L247F|DSE_uc003pwt.3_Missense_Mutation_p.L247F|DSE_uc003pwu.3_5'Flank	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	247					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTGGTCTTGCTCAGGGAGGT	0.463000														5			28		0	0	0.000227799	0	0
MICAL2	9645	broad.mit.edu	37	11	12265580	12265580	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:12265580C>T	uc001mjz.3	+	20	2993	c.2705C>T	c.(2704-2706)cCt>cTt	p.P902L	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.3_Missense_Mutation_p.P902L|MICAL2_uc010rci.2_Missense_Mutation_p.P902L|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Intron|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	902						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCTCCATCTCCTCCCTCTCGC	0.468000														24			144		0	0	0.000147903	0	0
GOLGA1	2800	broad.mit.edu	37	9	127700878	127700878	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:127700878C>T	uc004bpc.3	-	2	455	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GOLGA1_uc010mwt.1_Missense_Mutation_p.G38E	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	38						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGAGTCAGCTCCCATTGAGGC	0.403000														29			23		0	0	0.00047179	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013241	247013241	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:247013241C>A	uc001ibv.2	-	32	6191	c.6094G>T	c.(6094-6096)Gga>Tga	p.G2032*	AHCTF1_uc009xgs.1_Nonsense_Mutation_p.G884*|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2023	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GCTGGTTTTCCAACATCAACA	0.393000														150			8		0.000274275	0.00455924	0.000274275	1	0
OR6C65	403282	broad.mit.edu	37	12	55795165	55795165	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:55795165C>T	uc010spl.2	+	0	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGTTGAATCCCTTTATTTA	0.353000														19			20		0	0	0.000295444	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175155	143175155	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:143175155G>A	uc003wdc.1	+	0	190	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	64					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGTTGGGACGGTGCACAACTT	0.572000														40			34		0	0	0.000191422	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317818	78317818	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:78317818G>A	uc002bcy.4	-	4	869	c.869C>T	c.(868-870)cCc>cTc	p.P290L	TBC1D2B_uc010bla.3_Missense_Mutation_p.P290L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	290						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AAAATCAAAGGGGAATCCTGA	0.408000														13			13		0	0	0.000422831	0	0
OR10A3	26496	broad.mit.edu	37	11	7960755	7960755	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:7960755G>A	uc010rbi.2	-	0	313	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105I(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAAAGAAGGATGAAATAC	0.438000														5			35		0	0	0.000109025	0	0
UBAP2	55833	broad.mit.edu	37	9	33922684	33922684	+	Splice_Site	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:33922684C>T	uc003ztq.1	-	28	3377	c.3264_splice	c.e28+1	p.Q1088_splice	UBAP2_uc011loc.1_Splice_Site_p.Q997_splice|UBAP2_uc011lod.1_Splice_Site_p.Q821_splice|UBAP2_uc011loe.1_Splice_Site_p.Q843_splice|UBAP2_uc003ztn.1_Splice_Site_p.Q327_splice|UBAP2_uc003zto.1_Splice_Site_p.Q327_splice|UBAP2_uc003ztp.2_Splice_Site_p.Q327_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	1088										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTACTCACCTGTGCATCC	0.622000														2			11		0	0	6.40141e-05	0	0
PRSS38	339501	broad.mit.edu	37	1	228003816	228003816	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:228003816G>A	uc001hrh.3	+	1	174	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	58					proteolysis	extracellular region	serine-type endopeptidase activity	p.G58V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCATGGAGGGGAAAATCCTGG	0.692000														7			77		0	0	0.000147903	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329698	88329698	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr13:88329698C>T	uc001vln.3	+	1	2274	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F	SLITRK5_uc010tic.1_Silent_p.F444F|SLITRK5_uc021rlc.1_Silent_p.F685F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	685						integral to membrane		p.F685F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGGCTCTTCGTGCTGGTCA	0.592000														8			38		0	0	0.000270559	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812560	140812560	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:140812560G>C	uc003lkt.2	+	0	2403	c.2234G>C	c.(2233-2235)gGg>gCg	p.G745A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G745A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	755					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGGACGGGGTGCAGGCT	0.642000														76			4		0	0	0.000602214	0	0
TDRD1	56165	broad.mit.edu	37	10	115963932	115963932	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:115963932G>A	uc001lbg.1	+	8	1235	c.1082G>A	c.(1081-1083)aGa>aAa	p.R361K	TDRD1_uc001lbf.3_Missense_Mutation_p.R352K|TDRD1_uc001lbh.1_Missense_Mutation_p.R352K|TDRD1_uc001lbi.1_Missense_Mutation_p.R352K|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.R70K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	361	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCATTAAACAGAATTTACCAC	0.353000														14			16		0	0	0.000308642	0	0
MUC16	94025	broad.mit.edu	37	19	9073131	9073131	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:9073131G>A	uc002mkp.3	-	2	14519	c.14315C>T	c.(14314-14316)cCt>cTt	p.P4772L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4774	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						CATAGAAACAGGAGAGGAGGT	0.483000														28			16		0	0	0.000308642	0	0
UBE3B	89910	broad.mit.edu	37	12	109962272	109962272	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:109962272C>T	uc001top.3	+	22	3135	c.2532C>T	c.(2530-2532)ggC>ggT	p.G844G	UBE3B_uc001toq.3_Silent_p.G844G|UBE3B_uc001tos.3_Silent_p.G271G|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.G844G	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	844	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTGACCTGGGCCTGACGCTGT	0.567000														29			18		0	0	0.000375601	0	0
LAMB3	3914	broad.mit.edu	37	1	209796403	209796403	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:209796403C>A	uc001hhg.3	-	15	2870	c.2480G>T	c.(2479-2481)gGg>gTg	p.G827V	LAMB3_uc009xco.3_Missense_Mutation_p.G827V|LAMB3_uc001hhh.3_Missense_Mutation_p.G827V|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	827	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGAAGGCCCCACCGGCCCT	0.652000														80			7		0.000274275	0.00455924	0.000274275	1	0
FZD8	8325	broad.mit.edu	37	10	35928727	35928727	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:35928727G>A	uc001iyz.1	-	0	1636	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	544					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CACCACCGCGGCGGGCACGGT	0.677000														5			4		0	0	0.000602214	0	0
NUDT21	11051	broad.mit.edu	37	16	56473653	56473653	+	Silent	SNP	C	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr16:56473653C>A	uc002eja.3	-	3	534	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	129	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	p.L129L(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CCTGACGACCCAGTATCTGTC	0.403000														154			8		2.17888e-05	0.000372844	0.000442599	1	0
USP43	124739	broad.mit.edu	37	17	9615335	9615335	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:9615335C>T	uc010cod.3	+	13	2221	c.2221C>T	c.(2221-2223)Cac>Tac	p.H741Y	USP43_uc002gma.4_Missense_Mutation_p.H430Y|USP43_uc010vva.2_Missense_Mutation_p.H736Y|USP43_uc010coe.3_Missense_Mutation_p.H538Y|USP43_uc002gmc.4_Missense_Mutation_p.H253Y	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	741					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCTCGGGAGCCACGCTGGCAG	0.632000														7			6		0	0	8.12818e-05	0	0
CHRM2	1129	broad.mit.edu	37	7	136700449	136700449	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:136700449G>A	uc003vtf.1	+	3	1460	c.837G>A	c.(835-837)gaG>gaA	p.E279E	CHRM2_uc003vtg.1_Silent_p.E279E|CHRM2_uc003vti.1_Silent_p.E279E|CHRM2_uc003vtm.1_Silent_p.E279E|CHRM2_uc003vtj.1_Silent_p.E279E|CHRM2_uc003vtk.1_Silent_p.E279E|CHRM2_uc003vtl.1_Silent_p.E279E|CHRM2_uc003vtn.1_Silent_p.E279E|CHRM2_uc003vto.1_Silent_p.E279E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E279E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	279					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGGGAGAGGAGAAGGAGAGCT	0.498000														6			7		0	0	0.000157383	0	0
PSRC1	84722	broad.mit.edu	37	1	109824279	109824280	+	Silent	DNP	GG	TT	TT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:109824279_109824280GG>TT	uc001dxj.3	-	3	626_627	c.480_481CC>AA	c.(478-483)ctccgg>ctAAgg	p.160_161LR>LR	PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Silent_p.160_161LR>LR|PSRC1_uc001dxd.3_Silent_p.160_161LR>LR|PSRC1_uc001dxf.3_Silent_p.160_161LR>LR	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	160	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.R161L(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GATGTAGCCCGGAGAGCCCTGA	0.584000														207			7		0	0	6.4e-05	0	0
TLR7	51284	broad.mit.edu	37	X	12905811	12905811	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chrX:12905811G>A	uc004cvc.3	+	2	2323	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	728					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCAAGAATCTGATTCTTAAGA	0.418000														56			41		0	0	0.000147903	0	0
ZNF616	90317	broad.mit.edu	37	19	52618538	52618538	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:52618538G>A	uc002pym.3	-	3	2162	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TCTCCGGTATGAATTCTCTGA	0.433000														25			16		0	0	0.000422831	0	0
KIF16B	55614	broad.mit.edu	37	20	16355038	16355038	+	Nonsense_Mutation	SNP	G	A	A	rs141670446		TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr20:16355038G>A	uc002wpg.2	-	19	3373	c.3214C>T	c.(3214-3216)Cag>Tag	p.Q1072*	KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q454*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q454*|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Nonsense_Mutation_p.Q1072*	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1072					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGCTGCTGGATTTCATAT	0.428000														67			58		0	0	0.000147903	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103657	49103657	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:49103657G>A	uc003bim.4	+	3	507	c.390_splice	c.e3+1	p.T130_splice	FAM19A5_uc003bio.4_Splice_Site_p.T123_splice	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	130						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GACCACCACGGTATGTGGCCC	0.657000														30			28		0	0	0.000409698	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276620	47276620	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:47276620G>A	uc001cqn.4	+	2	406	c.322_splice	c.e2+1	p.D108_splice	CYP4B1_uc009vyl.1_Splice_Site|CYP4B1_uc001cqm.4_Splice_Site_p.D108_splice|CYP4B1_uc009vym.3_Splice_Site_p.G108_splice|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	108					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACAGCCGTGGGGGTGAGGAGA	0.567000														0			14		0	0	7.07596e-05	0	0
KCNK5	8645	broad.mit.edu	37	6	39158965	39158965	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr6:39158965C>T	uc003oon.3	-	4	1565	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	401					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCTCGCATTCCTCGCTGATG	0.627000														4			33		0	0	0.000109025	0	0
XPOT	11260	broad.mit.edu	37	12	64821849	64821849	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:64821849C>T	uc001ssb.3	+	15	2192	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	562	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGAATCCTTTCATTGAGGATA	0.318000														25			17		0	0	9.7654e-05	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956224	18956224	+	Silent	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:18956224G>A	uc001mpg.3	-	0	326	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	36			I -> V (in dbSNP:rs11024885).		acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAGGGAAACGATGCACGTCA	0.557000														92			93		0	0	0.000147903	0	0
F2	2147	broad.mit.edu	37	11	46748278	46748278	+	Silent	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:46748278C>T	uc001ndf.4	+	8	1064	c.1021C>T	c.(1021-1023)Ctg>Ttg	p.L341L		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	341					STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGCGACCTCTGTTCGAGAA	0.612000														5			29		0	0	0.000184323	0	0
OR52E4	390081	broad.mit.edu	37	11	5905551	5905551	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr11:5905551A>C	uc010qzs.2	+	0	29	c.29A>C	c.(28-30)tAt>tCt	p.Y10S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCACTTCTATCCCCCCTTC	0.443000														3			36		0	0	0.000509022	0	0
CSMD1	64478	broad.mit.edu	37	8	3165304	3165304	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr8:3165304C>T	uc022aqr.1	-	24	4253	c.3863G>A	c.(3862-3864)cGa>cAa	p.R1288Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R681Q|CSMD1_uc003wqe.3_Missense_Mutation_p.R445Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1289	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACAATATTCGTCCTGATGT	0.478000														4			48		0	0	0.000147903	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331187	82331187	+	Splice_Site	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr10:82331187G>A	uc001kck.1	+	3	778	c.348_splice	c.e3-1	p.W116_splice	SH2D4B_uc001kcl.1_Splice_Site_p.W67_splice	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	115	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CTCTTGGTAGGAGACAGAAGG	0.463000														27			15		0	0	0.000308642	0	0
IGF1R	3480	broad.mit.edu	37	15	99454591	99454591	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr15:99454591C>T	uc002bul.3	+	6	1560	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	IGF1R_uc010urq.2_Missense_Mutation_p.R504C|IGF1R_uc010bon.3_Missense_Mutation_p.R504C|IGF1R_uc010urr.1_5'UTR	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	504	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTCGAAGAATCGCATCATCAT	0.512000														23			18		0	0	0.000566183	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175764	71175764	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr7:71175764G>A	uc003tvy.3	+	9	1519	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	WBSCR17_uc003tvz.3_Missense_Mutation_p.E206K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	507	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTACACCAAGGAAGGCTTCCT	0.632000														21			36		0	0	0.000125731	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38586238	38586238	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr9:38586238C>T	uc004abg.4	-	11	2267	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ANKRD18A_uc004abf.1_Missense_Mutation_p.G407E	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	730										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						ATTTAAGTCTCCATGGCAACT	0.284000														0			16		0	0	0.000175454	0	0
SEPP1	6414	broad.mit.edu	37	5	42808366	42808366	+	Silent	SNP	T	C	C			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:42808366T>C	uc011cps.2	-	2	278	c.180A>G	c.(178-180)caA>caG	p.Q60Q	SEPP1_uc011cpt.2_Silent_p.Q30Q|SEPP1_uc011cpu.2_Silent_p.Q30Q|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	30					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AGGCTGGGGGTTGCTTACATA	0.532000														4			32		0	0	0.000491102	0	0
ZFR	51663	broad.mit.edu	37	5	32397366	32397367	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr5:32397366_32397367CC>AA	uc003jhr.1	-	9	1871_1872	c.1791_1792GG>TT	c.(1789-1794)aaggag>aaTTag	p.597_598KE>N*		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	597					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AAGTGCATCTCCTTAGCATTGG	0.337000														161			10		0	0	6.4e-05	0	0
GPR88	54112	broad.mit.edu	37	1	101004950	101004950	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:101004950delC	uc021oqq.1	+	0	428	c.428delC	c.(427-429)accfs	p.T143fs	GPR88_uc001dth.3_Frame_Shift_Del_p.T143fs	NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	Homo sapiens G protein-coupled receptor 88 (GPR88), mRNA.	143						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		CTGCTCATCACCCGGGCGCCC	0.721													---	4	---	---	2	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr1:155870237delT	uc001fmh.1	-	5	789	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_uc010pgr.1_Frame_Shift_Del_p.N165fs	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	201					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413													---	751	---	---	7	---					
SLC4A10	57282	broad.mit.edu	37	2	162807241	162807241	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr2:162807241delA	uc002ubx.4	+	18	2608	c.2424delA	c.(2422-2424)ccafs	p.P808fs	SLC4A10_uc010zcs.2_Frame_Shift_Del_p.P789fs|SLC4A10_uc002uby.4_Frame_Shift_Del_p.P778fs	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	808					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTAGGTCCAAACCCATGGT	0.388													---	4	---	---	2	---					
BAZ2A	11176	broad.mit.edu	37	12	57005698	57005698	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr12:57005698delA	uc001slq.1	-	5	1668	c.1474delT	c.(1474-1476)tccfs	p.S492fs	BAZ2A_uc001slp.1_Frame_Shift_Del_p.S490fs|BAZ2A_uc009zow.1_Frame_Shift_Del_p.S460fs	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	492					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding	p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTTTTGGGGATGTCACTGAA	0.537													---	9	---	---	10	---					
MYBBP1A	10514	broad.mit.edu	37	17	4453361	4453362	+	In_Frame_Ins	INS	-	GAT	GAT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr17:4453361_4453362insGAT	uc002fxz.4	-	8	1372_1373	c.1310_1311insATC	c.(1309-1311)tcg>tcATCg	p.437_437S>SS	MYBBP1A_uc002fyb.4_In_Frame_Ins_p.437_437S>SS	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	437	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACATGTGGAGCGATGAATCCTG	0.589													---	86	---	---	36	---					
MEGF8	1954	broad.mit.edu	37	19	42862308	42862309	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:42862308_42862309insCT	uc002otl.4	+	27	5458_5459	c.4823_4824insCT	c.(4822-4824)cacfs	p.H1608fs	MEGF8_uc002otm.4_Frame_Shift_Ins_p.H1216fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1675						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCTATGGTCACTCTGCTGTCT	0.653													---	4	---	---	2	---					
ZNF841	284371	broad.mit.edu	37	19	52569243	52569243	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr19:52569243delC	uc010ydh.1	-	6	2352	c.1892delG	c.(1891-1893)ggcfs	p.G631fs	ZNF841_uc002pyl.1_Frame_Shift_Del_p.G515fs	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAAGACCTTGCCGCATTCGTT	0.423													---	131	---	---	44	---					
FAM116B	414918	broad.mit.edu	37	22	50754836	50754836	+	Frame_Shift_Del	DEL	G	-	-	rs146906468	by1000genomes	TCGA-BF-A1PZ-01A-11D-A19A-08	TCGA-BF-A1PZ-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ef799ed-a9fa-4328-95d3-265699e16339	a8458b1d-3040-455b-ae7a-b1ac22b9f2b6	g.chr22:50754836delG	uc011arv.1	-	5	594	c.522delC	c.(520-522)cccfs	p.P174fs		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	174										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAAAGTACTCGGGGGCGATGA	0.637													---	4	---	---	2	---					
