Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMEM201	199953	broad.mit.edu	37	1	9661266	9661266	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:9661266G>T	ENST00000340305.5	+	5	719	c.710G>T	c.(709-711)aGc>aTc	p.S237I	TMEM201_ENST00000340381.6_Missense_Mutation_p.S237I|TMEM201_ENST00000377376.4_Missense_Mutation_p.S237I	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	237						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TATGGGGCCAGCGGACACTTC	0.687000													18	86					1.56452e-12	1.84243e-12	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10032121	10032121	+	Silent	SNP	G	G	A	rs150208429		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:10032121G>A	ENST00000396573.2	-	4	1011	c.702C>T	c.(700-702)gaC>gaT	p.D234D	GRIN2A_ENST00000535259.1_Silent_p.D77D|GRIN2A_ENST00000562109.1_Silent_p.D234D|GRIN2A_ENST00000404927.2_Silent_p.D234D|GRIN2A_ENST00000330684.3_Silent_p.D234D|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Silent_p.D234D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	234					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAACAGCCTCGTCTTTGGAAC	0.507000													13	71					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113009	114113009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:114113009G>A	ENST00000335953.4	+	5	1954	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	525					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAGTGCAACCGCACCTTCCCC	0.632000													4	76					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43986996	43986996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:43986996G>A	ENST00000261488.6	-	4	632	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q19*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	19					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCCATCATCTGAGGAAGCTCC	0.483000													14	78					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010657	63010657	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:63010657G>A	ENST00000439174.2	-	4	1097	c.852C>T	c.(850-852)gtC>gtT	p.V284V	GNA13_ENST00000541118.1_Silent_p.V189V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	284					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GAATTATGGAGACATTGCTGA	0.408000													26	86					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953436	25953436	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25953436C>G	ENST00000356865.6	-	11	2467	c.2356G>C	c.(2356-2358)Ggg>Cgg	p.G786R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	786					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGATGCCTCCCTCTGGCGTCA	0.512000													16	67					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5438039	5438039	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:5438039G>A	ENST00000341928.2	-	6	940	c.600C>T	c.(598-600)atC>atT	p.I200I	EPB41L3_ENST00000342933.3_Silent_p.I200I|EPB41L3_ENST00000400111.3_Silent_p.I200I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Silent_p.I200I|EPB41L3_ENST00000540638.2_Silent_p.I200I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	200	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATACCTGGTGATATCTTCAG	0.408000													9	36					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403000													25	137					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612000													4	84					2.0095e-06	2.15389e-06	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38793961	38793961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38793961G>A	ENST00000359357.3	+	27	3480	c.3226G>A	c.(3226-3228)Gcc>Acc	p.A1076T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A1293T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1076T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCCATCGAGGCCAAGGCATG	0.328000													10	29					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	398246	398246	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:398246G>A	ENST00000356286.5	+	3	949	c.244G>A	c.(244-246)Gcg>Acg	p.A82T	RBCK1_ENST00000353660.3_Missense_Mutation_p.A40T|RBCK1_ENST00000382181.2_5'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	82	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TATGACAGTGGCGTCTCTCAA	0.607000													8	74					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													3	43					0.115264	0.115912	1	1	0
SVIL	6840	broad.mit.edu	37	10	29812476	29812476	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:29812476T>C	ENST00000375398.2	-	17	3516	c.3067A>G	c.(3067-3069)Atg>Gtg	p.M1023V	SVIL_ENST00000375400.3_Missense_Mutation_p.M597V|SVIL_ENST00000355867.4_Missense_Mutation_p.M1023V			O95425	SVIL_HUMAN	supervillin	1023					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGTGCATTCATTTTAGCCATG	0.478000													15	70					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847819	123847819	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123847819C>G	ENST00000531945.1	-	1	669	c.580G>C	c.(580-582)Gac>Cac	p.D194H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D194N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGGGGTATGTCGCAGAAGAAG	0.567000													21	65					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49341311	49341311	+	Missense_Mutation	SNP	C	C	T	rs142246074		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:49341311C>T	ENST00000355496.5	-	16	2121	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	PLEKHA4_ENST00000263265.6_Silent_p.L680L	NM_001161354.1	NP_001154826.1	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	0						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCAGTAGCCAGGGCTTGGG	0.557000													18	103					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192014	152192014	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:152192014C>G	ENST00000368801.2	-	3	2166	c.2091G>C	c.(2089-2091)caG>caC	p.Q697H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	697					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGGAAGACTGGCCTGAGA	0.567000													62	242					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595769	82595769	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:82595769T>A	ENST00000423517.2	-	4	3672	c.3335A>T	c.(3334-3336)cAg>cTg	p.Q1112L	PCLO_ENST00000333891.8_Missense_Mutation_p.Q1112L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1051					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						TATTGCTCTCTGGGTTTGGCA	0.388000													20	61					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773012	113773012	+	Missense_Mutation	SNP	G	G	A	rs121964926	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:113773012G>A	ENST00000375581.3	+	9	1126	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	F7_ENST00000346342.3_Missense_Mutation_p.R342Q|F7_ENST00000541084.1_Missense_Mutation_p.R295Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	364	Peptidase S1.		R -> Q (in FA7D; Harrow/Padua).|R -> W (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AACGTGCCCCGGCTGATGACC	0.637000													6	37					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143713795	143713795	+	Silent	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:143713795A>G	ENST00000264170.4	+	6	717	c.459A>G	c.(457-459)ccA>ccG	p.P153P	KYNU_ENST00000409512.1_Silent_p.P153P|KYNU_ENST00000375773.2_Silent_p.P153P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	153					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGCCTACGCCAAAACGATATA	0.308000													4	24					0	0	1	0	0
ARPC3	10094	broad.mit.edu	37	12	110874930	110874930	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:110874930T>C	ENST00000228825.7	-	4	357	c.211A>G	c.(211-213)Ata>Gta	p.I71V	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	71					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						TAGAGAGTTATATATATCAAG	0.333000													4	42					0	0	1	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572000													5	67					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267972	103267972	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:103267972C>T	ENST00000217926.5	-	1	287	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	87			R -> W (in dbSNP:rs17332043).		nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GCTTCAGCACCCGGCGGAAAT	0.632000													17	94					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49159484	49159484	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:49159484T>C	ENST00000418109.1	-	30	4980	c.4816A>G	c.(4816-4818)Aca>Gca	p.T1606A	LAMB2_ENST00000305544.4_Missense_Mutation_p.T1606A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1606	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTGTACTGTCTCTGCCTTC	0.617000													16	56					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258301	10258301	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:10258301T>C	ENST00000418404.3	-	9	975	c.812A>G	c.(811-813)gAa>gGa	p.E271G	MYH13_ENST00000252172.4_Missense_Mutation_p.E271G|MYH13_ENST00000570743.1_Missense_Mutation_p.E271G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	271	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGGATTTTTCTAACAGATC	0.373000													5	25					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38922789	38922789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:38922789C>T	ENST00000335552.4	-	8	1433	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	462	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGAAGGTACTCGTTGCTCTAC	0.383000													13	56					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													10	122					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74350566	74350566	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:74350566A>T	ENST00000263665.6	-	15	2105	c.2078T>A	c.(2077-2079)gTa>gAa	p.V693E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	693	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCAGTTCTTACTTTTTCTGA	0.423000													16	57					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112087036	112087036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:112087036G>A	ENST00000357685.5	+	11	1744	c.1609G>A	c.(1609-1611)Gtg>Atg	p.V537M	BCO2_ENST00000361053.4_Missense_Mutation_p.V464M|BCO2_ENST00000393032.2_Missense_Mutation_p.V503M|BCO2_ENST00000526088.1_Missense_Mutation_p.V497M|BCO2_ENST00000532593.1_Missense_Mutation_p.V432M|BCO2_ENST00000438022.1_Missense_Mutation_p.V503M|BCO2_ENST00000531169.1_Missense_Mutation_p.V503M			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	537					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTTTCTGTGGTGATCACTCC	0.433000													16	27					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73492756	73492756	+	Silent	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:73492756A>G	ENST00000521871.1	-	5	1633	c.1218T>C	c.(1216-1218)cgT>cgC	p.R406R	FBXO41_ENST00000520530.2_Silent_p.R406R|FBXO41_ENST00000295133.5_Silent_p.R467R			Q8TF61	FBX41_HUMAN	F-box protein 41	406						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CGGCTGGCACACGGCTGGAGG	0.662000													4	12					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330595	7330595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7330595C>T	ENST00000333870.3	+	3	1359	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	429						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCTCCCAGCCCTGGCCCAA	0.642000													13	41					0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	929709	929709	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:929709G>A	ENST00000263620.3	+	2	508	c.181G>A	c.(181-183)Gca>Aca	p.A61T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	61						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGATGGCCGCACTGGCAGC	0.771000													4	10					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54435232	54435232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:54435232G>T	ENST00000537900.1	+	2	3001	c.3001G>T	c.(3001-3003)Gaa>Taa	p.E1001*	UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1001*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1001					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTGTGGATGAAAAGGTTTT	0.323000													11	58					0.000978159	0.00101797	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55708511	55708511	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55708511G>T	ENST00000376350.3	-	9	1986	c.1964C>A	c.(1963-1965)tCc>tAc	p.S655Y	PTPRH_ENST00000263434.5_Missense_Mutation_p.S477Y|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	655	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTCTGCGTGGAACTGGCTAC	0.552000													17	38					3.99206e-14	4.76385e-14	1	1	0
SSTR1	6751	broad.mit.edu	37	14	38679517	38679517	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:38679517C>G	ENST00000267377.2	+	3	1540	c.923C>G	c.(922-924)tCg>tGg	p.S308W		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	308					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	AGTCAGCTGTCGGTCATCCTC	0.552000													24	87					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131531174	131531174	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:131531174C>A	ENST00000401867.1	-	14	1940		c.e14-1		P4HA2_ENST00000379100.2_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II							endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CATCACTCATCTGGAAATATA	0.488000													5	32					4.096e-09	4.61122e-09	1	1	0
XKR7	343702	broad.mit.edu	37	20	30585199	30585199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:30585199G>A	ENST00000217299.3	+	3	1853	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	560						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCACGCCCCGGTTGCAGTAC	0.592000													23	89					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176983983	176983983	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:176983983C>G	ENST00000367654.2	-	8	1504	c.1491G>C	c.(1489-1491)atG>atC	p.M497I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M489I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M489I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M489I			O14525	ASTN1_HUMAN	astrotactin 1	497	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGATCCTTCATGTAGCCTT	0.448000													75	279					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47102104	47102104	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:47102104G>A	ENST00000377107.2	+	12	1922	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	USP11_ENST00000218348.3_Missense_Mutation_p.R566H			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATCTTGGACCGTGATGATATC	0.507000													19	56					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60051996	60051996	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr18:60051996G>C	ENST00000586569.1	+	10	1618	c.1580G>C	c.(1579-1581)gGa>gCa	p.G527A	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.G210A	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	527					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AATGTGACTGGAAACAGTAAC	0.627000													4	14					0	0	1	0	0
PGPEP1	54858	broad.mit.edu	37	19	18468195	18468195	+	Silent	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:18468195G>C	ENST00000269919.5	+	4	302	c.207G>C	c.(205-207)ctG>ctC	p.L69L	PGPEP1_ENST00000604499.1_Silent_p.L69L|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000595066.1_Silent_p.L69L|PGPEP1_ENST00000595552.1_Intron	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	69							cysteine-type peptidase activity										GTGTGCAGCTGGTGGTGCATG	0.592000													7	24					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123067338	123067338	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:123067338C>T	ENST00000333479.7	+	34	3246	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1023					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAAAGCTCACGAAGTTGCAC	0.493000													5	25					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458000										HNSCC(45;0.13)			89	169					9.27813e-46	1.13752e-45	1	1	0
OR52I2	143502	broad.mit.edu	37	11	4608934	4608934	+	Missense_Mutation	SNP	G	G	A	rs149646629		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:4608934G>A	ENST00000312614.4	+	1	914	c.892G>A	c.(892-894)Gta>Ata	p.V298I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCAGGATGTAGTGCCCTT	0.522000													41	112					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52668694	52668694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:52668694T>A	ENST00000399231.3	-	19	2513	c.2270A>T	c.(2269-2271)tAt>tTt	p.Y757F	MYO5A_ENST00000553916.1_Missense_Mutation_p.Y757F|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000358212.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y757F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	757	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTTTTCTAGATAGGCCACTTG	0.438000													14	50					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111893958	111893958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:111893958G>A	ENST00000377617.3	-	23	3780	c.3619C>T	c.(3619-3621)Cct>Tct	p.P1207S	ATXN2_ENST00000542287.2_Missense_Mutation_p.P942S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P944S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P900S|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1207					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAGGCAGGTGTCATGGAG	0.592000													50	226					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10981948	10981948	+	Silent	SNP	A	A	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:10981948A>C	ENST00000304623.8	-	21	3543	c.3354T>G	c.(3352-3354)acT>acG	p.T1118T	CTNND2_ENST00000359640.2_Silent_p.T1060T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.T781T|CTNND2_ENST00000458100.2_Silent_p.T685T|CTNND2_ENST00000511377.1_Silent_p.T1027T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1118					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGAAATTCCAGTGTTTTGAG	0.348000													17	68					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716000													4	129					0.150653	0.150653	1	1	0
FAT1	2195	broad.mit.edu	37	4	187530348	187530348	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:187530348C>A	ENST00000441802.2	-	16	10404	c.10195G>T	c.(10195-10197)Gac>Tac	p.D3399Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3399	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCTCGGTCGAGAAGTTTG	0.448000										HNSCC(5;0.00058)			9	20					9.70103e-10	1.10604e-09	1	1	0
UBE2R2	54926	broad.mit.edu	37	9	33900204	33900204	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:33900204G>T	ENST00000263228.3	+	3	488	c.297G>T	c.(295-297)ccG>ccT	p.P99P		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	99					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TTCTTCATCCGCCTGTAGATG	0.398000													7	56					0.000274275	0.000287107	1	1	0
CYFIP1	23191	broad.mit.edu	37	15	22933783	22933783	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:22933783C>T	ENST00000313077.7	+	8	827	c.702C>T	c.(700-702)taC>taT	p.Y234Y	CYFIP1_ENST00000560848.1_Silent_p.Y234Y	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	234					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTTCTGGCTACGAAGAGCTCC	0.527000													40	129					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17429971	17429971	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:17429971G>T	ENST00000302539.4	-	23	2916	c.2791C>A	c.(2791-2793)Ctc>Atc	p.L931I	ABCC8_ENST00000389817.3_Missense_Mutation_p.L930I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	930					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGTTCATGAGGGTCTTCCAG	0.537000													25	54					3.01185e-09	3.41216e-09	1	1	0
IRF2BP1	26145	broad.mit.edu	37	19	46388616	46388616	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:46388616C>T	ENST00000302165.3	-	1	760	c.417G>A	c.(415-417)ggG>ggA	p.G139G		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CACGGCCCAGCCCATTGGCCA	0.701000													7	26					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891711	89891711	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:89891711T>A	ENST00000435811.1	-	7	1265	c.811A>T	c.(811-813)Act>Tct	p.T271S	GABRR1_ENST00000369451.3_Missense_Mutation_p.T201S|GABRR1_ENST00000454853.2_Missense_Mutation_p.T288S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	288					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGGAAATAAGTTTGGAGCAAG	0.512000													30	97					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50330867	50330867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:50330867G>A	ENST00000336307.1	-	4	1336	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	HYAL3_ENST00000415204.1_Missense_Mutation_p.A106V|HYAL3_ENST00000450982.1_Missense_Mutation_p.A325V|HYAL3_ENST00000513170.1_Missense_Mutation_p.A76V|HYAL3_ENST00000359051.3_Missense_Mutation_p.A325V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	355	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTGACTGCAGGCCATCGCTGC	0.607000													13	42					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131268816	131268816	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:131268816T>A	ENST00000512055.1	-	18	3403	c.1277A>T	c.(1276-1278)gAg>gTg	p.E426V	CPNE4_ENST00000511604.1_Missense_Mutation_p.E426V|CPNE4_ENST00000429747.1_Missense_Mutation_p.E426V|CPNE4_ENST00000512332.1_Missense_Mutation_p.E444V|CPNE4_ENST00000502818.1_Missense_Mutation_p.E444V			Q96A23	CPNE4_HUMAN	copine IV	426	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTTAGTTTCCTCTGACGCTGA	0.532000													15	67					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091116	106091116	+	RNA	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:106091116C>A	ENST00000390543.2	-	0	680																											GGGTGTACACCTGTGGCTCTC	0.647000													33	416					1.62565e-12	1.9019e-12	1	1	0
CDH16	1014	broad.mit.edu	37	16	66945907	66945907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr16:66945907G>A	ENST00000299752.4	-	13	1878	c.1685C>T	c.(1684-1686)cCc>cTc	p.P562L	CDH16_ENST00000568632.1_Missense_Mutation_p.P465L|CDH16_ENST00000570262.1_Missense_Mutation_p.P482L|CDH16_ENST00000394055.3_Missense_Mutation_p.P562L|CDH16_ENST00000565796.1_Missense_Mutation_p.P562L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	562	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCAACTTGGGGGGTGGCAT	0.662000													43	100					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12359287	12359287	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:12359287G>T	ENST00000358136.3	+	25	6192	c.6062G>T	c.(6061-6063)cGg>cTg	p.R2021L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2021L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2021					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGCTGTTCACGGGTTCTCCTG	0.438000													25	69					6.36457e-07	6.9467e-07	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247582236	247582236	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:247582236A>G	ENST00000366497.2	+	2	920	c.140A>G	c.(139-141)gAg>gGg	p.E47G	NLRP3_ENST00000336119.3_Missense_Mutation_p.E47G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E47G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E47G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	47	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGTCAGACAGAGAAGGCAGAC	0.557000													6	37					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140264024	140264024	+	Silent	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:140264024A>T	ENST00000296543.5	+	5	770	c.447A>T	c.(445-447)gcA>gcT	p.A149A	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A149A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	149					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CGCAGAGAGCATCATGGATTG	0.343000													12	52					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													5	181					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29663706	29663706	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:29663706T>C	ENST00000358273.4	+	42	6584	c.6201T>C	c.(6199-6201)ccT>ccC	p.P2067P	NF1_ENST00000356175.3_Silent_p.P2046P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2067					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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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	protein binding|Ras GTPase activator activity	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)		CTCCAACTCCTACTTTAGAAC	0.363000			"""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)			7	30					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100553	8100553	+	Missense_Mutation	SNP	C	C	A	rs145577748		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:8100553C>A	ENST00000379328.3	+	3	1095	c.527C>A	c.(526-528)gCc>gAc	p.A176D	GATA3_ENST00000346208.3_Missense_Mutation_p.A176D|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	176					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCGGCTCGGCCCGGCAGGAC	0.706000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						82	99					4.02937e-33	4.90651e-33	1	1	0
NUDT9	53343	broad.mit.edu	37	4	88370348	88370348	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:88370348T>C	ENST00000473942.1	+	5	557	c.435T>C	c.(433-435)caT>caC	p.H145H	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000302174.4_Silent_p.H195H	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	195						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		CTGGGAAGCATATCTTACAAT	0.328000													11	37					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805970	27805970	+	Missense_Mutation	SNP	C	C	T	rs142211266		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:27805970C>T	ENST00000330180.2	-	1	147	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	50					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCAGGTACACCGGCGCTCCG	0.662000													19	116					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000073	167000073	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:167000073G>A	ENST00000392766.2	-	19	2430	c.2090C>T	c.(2089-2091)aCt>aTt	p.T697I	ZBBX_ENST00000307529.5_Missense_Mutation_p.T736I|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736I|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697I|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	697						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						ATTGTCTAAAGTATGTTGATC	0.328000													23	50					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466305	88466305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88466305C>T	ENST00000361373.4	+	7	935	c.914C>T	c.(913-915)gCg>gTg	p.A305V	LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	305						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						ATTGAGCATGCGCCGGTGTGC	0.667000													72	259					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983200	17983200	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:17983200A>G	ENST00000361221.3	+	25	3016	c.2857A>G	c.(2857-2859)Agc>Ggc	p.S953G	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S726G|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S656G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S948G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	953					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCCTCGGACCAGCGGTGAGGA	0.647000													3	50					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52117695	52117695	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:52117695A>T	ENST00000371710.3	+	2	380	c.198A>T	c.(196-198)agA>agT	p.R66S	OSBPL9_ENST00000371714.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R66S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000435686.2_De_novo_Start_InFrame|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R48S	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	48	PH.				lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GCTCTCGCAGAGGATGTGTTA	0.294000													8	20					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63848087	63848087	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:63848087C>T	ENST00000392769.2	-	21	2447	c.2229G>A	c.(2227-2229)caG>caA	p.Q743Q	CEP112_ENST00000541355.1_Silent_p.Q378Q|CEP112_ENST00000535342.2_Silent_p.Q743Q|CEP112_ENST00000537949.1_Silent_p.Q701Q|CEP112_ENST00000580482.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	743						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GCTGTTTCCGCTGTGAGTTCA	0.428000													17	55					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609590	31609590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:31609590G>T	ENST00000170150.3	+	15	1515	c.1320G>T	c.(1318-1320)gaG>gaT	p.E440D		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	440						extracellular region	lipid binding										TCGCCCCTGAGATCTTTGTCT	0.587000													41	78					5.34276e-22	6.41848e-22	1	1	0
DHRS2	10202	broad.mit.edu	37	14	24113650	24113650	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24113650G>A	ENST00000250383.6	+	7	1049	c.573G>A	c.(571-573)gcG>gcA	p.A191A	DHRS2_ENST00000344777.7_Silent_p.A191A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	169					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCAAGACAGCGCTGCTGGGTC	0.512000													22	104					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7689197	7689197	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7689197G>A	ENST00000358368.4	-	7	994	c.957C>T	c.(955-957)cgC>cgT	p.R319R	XAB2_ENST00000534844.1_Silent_p.R316R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	319					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCTCCTCCTCGCGCCCCAGCT	0.642000								Direct reversal of damage;Nucleotide excision repair (NER)					19	115					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													5	69					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38939413	38939413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:38939413G>C	ENST00000359357.3	+	81	12100	c.11846G>C	c.(11845-11847)cGa>cCa	p.R3949P	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166P|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTACATGCTCGAAAGCTGATT	0.413000													14	54					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729634	62729634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:62729634G>T	ENST00000349451.3	+	6	1007	c.595G>T	c.(595-597)Gag>Tag	p.E199*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.E199*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.E199*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	199					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCAGAGATCGAGTGCCTGGT	0.637000													15	61					4.7546e-09	5.31921e-09	1	1	0
CD209	30835	broad.mit.edu	37	19	7810657	7810657	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7810657C>A	ENST00000315599.7	-	4	517	c.495G>T	c.(493-495)aaG>aaT	p.K165N	CD209_ENST00000601951.1_Missense_Mutation_p.K141N|CD209_ENST00000601256.1_Missense_Mutation_p.K141N|CD209_ENST00000204801.8_Missense_Mutation_p.K121N|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K141N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K141N|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K165N	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	165	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCATCTTAGATTTCT	0.552000													6	230					0.00198382	0.00205262	1	1	0
DST	667	broad.mit.edu	37	6	56482206	56482206	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:56482206T>C	ENST00000370765.6	-	24	6166	c.6059A>G	c.(6058-6060)aAc>aGc	p.N2020S	DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1423					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATACTGCTTGTTCTTAGCTAT	0.348000													30	124					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169027	36169027	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:36169027A>G	ENST00000357641.6	+	2	1181	c.928A>G	c.(928-930)Att>Gtt	p.I310V	BRPF3_ENST00000534400.1_Missense_Mutation_p.I310V|BRPF3_ENST00000543502.1_Missense_Mutation_p.I310V|BRPF3_ENST00000534694.1_Missense_Mutation_p.I310V|BRPF3_ENST00000339717.7_Missense_Mutation_p.I310V|BRPF3_ENST00000443324.2_Missense_Mutation_p.I310V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	310					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTTGGAACCTATTGAGGGCAT	0.532000													12	85					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94506780	94506780	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:94506780T>C	ENST00000370225.3	-	23	3593	c.3507A>G	c.(3505-3507)caA>caG	p.Q1169Q		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1169					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCCTTTCCTTTGGCTCTGGA	0.562000													6	44					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972422	61972422	+	Missense_Mutation	SNP	A	A	G	rs17854931		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:61972422A>G	ENST00000316193.8	-	5	755	c.614T>C	c.(613-615)aTg>aCg	p.M205T	CSH1_ENST00000453363.3_Missense_Mutation_p.M110T|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	205					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCACTGCACCATGCGCAGGAA	0.587000									Russell-Silver syndrome				23	104					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518352	8518352	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:8518352T>C	ENST00000381196.4	-	18	1582	c.1039A>G	c.(1039-1041)Aac>Gac	p.N347D	PTPRD_ENST00000358503.5_Missense_Mutation_p.N334D|PTPRD_ENST00000486161.1_Missense_Mutation_p.N347D|PTPRD_ENST00000356435.5_Missense_Mutation_p.N347D|PTPRD_ENST00000397617.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397606.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397611.3_Missense_Mutation_p.N344D|PTPRD_ENST00000355233.5_Missense_Mutation_p.N347D|PTPRD_ENST00000537002.1_Missense_Mutation_p.N344D|PTPRD_ENST00000540109.1_Missense_Mutation_p.N347D|PTPRD_ENST00000360074.4_Missense_Mutation_p.N334D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	347	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCTCAGGGTTCCCAGAGTCC	0.468000										TSP Lung(15;0.13)			15	70					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302606	161302606	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:161302606T>G	ENST00000428797.2	+	7	872	c.517T>G	c.(517-519)Ttc>Gtc	p.F173V	GABRA1_ENST00000444819.1_Missense_Mutation_p.F173V|GABRA1_ENST00000437025.2_Missense_Mutation_p.F173V|GABRA1_ENST00000023897.6_Missense_Mutation_p.F173V|GABRA1_ENST00000393943.4_Missense_Mutation_p.F173V|GABRA1_ENST00000420560.1_Missense_Mutation_p.F173V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	173					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTTGGAGGACTTCCCTATGGA	0.378000													23	72					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523356	92523356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:92523356C>T	ENST00000298047.6	+	7	4600	c.4583C>T	c.(4582-4584)gCc>gTc	p.A1528V	FAT3_ENST00000525166.1_Missense_Mutation_p.A1378V|FAT3_ENST00000409404.2_Missense_Mutation_p.A1528V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1528	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)				GACCATGAGGCCCAGGACAAG	0.488000										TCGA Ovarian(4;0.039)			19	146					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603235	95603235	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:95603235T>C	ENST00000343958.4	-	2	2048	c.1825A>G	c.(1825-1827)Atg>Gtg	p.M609V	FGD6_ENST00000549499.1_Missense_Mutation_p.M609V|FGD6_ENST00000546711.1_Missense_Mutation_p.M609V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	609					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCCACATCCATAGCAGATAAC	0.418000													39	140					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42461828	42461828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr22:42461828C>T	ENST00000396398.3	-	6	1205	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	NAGA_ENST00000402937.1_Missense_Mutation_p.V225M|NAGA_ENST00000403363.1_Missense_Mutation_p.V225M	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	225					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATGGAGAGCACGCTCCACCAG	0.577000													7	40					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321748	52321748	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:52321748G>A	ENST00000356297.4	-	17	2536	c.2436C>T	c.(2434-2436)caC>caT	p.H812H	PXDNL_ENST00000543296.1_Silent_p.H812H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	812					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTCCAAGTCGTGCTCTAGAA	0.677000													3	16					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89909017	89909017	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:89909017G>C	ENST00000389297.4	+	12	1433	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	C7orf63_ENST00000497910.1_Missense_Mutation_p.L376F|C7orf63_ENST00000316089.8_Missense_Mutation_p.L394F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	394							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTTATTTTGGCTTTGTTTA	0.323000											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	37					0	0	1	0	0
SNORD115-44	100033818	broad.mit.edu	37	15	25496006	25496006	+	RNA	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25496006G>C	ENST00000365391.1	+	0	1					NR_003359.1																						GCCCTTGGTTGGGTCAATGAT	0.522000													68	277					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127512150	127512150	+	Silent	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:127512150T>A	ENST00000299130.3	+	1	36	c.24T>A	c.(22-24)cgT>cgA	p.R8R	BCCIP_ENST00000429863.2_Silent_p.R8R|BCCIP_ENST00000278100.6_Silent_p.R8R|BCCIP_ENST00000368759.5_Silent_p.R8R	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	8					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTAAGCGGCGTGCCGTGGAAA	0.607000													32	184					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561914	154561914	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154561914G>C	ENST00000368474.4	-	9	2892	c.2693C>G	c.(2692-2694)tCt>tGt	p.S898C	ADAR_ENST00000292205.5_Missense_Mutation_p.S941C|ADAR_ENST00000368471.3_Missense_Mutation_p.S603C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	898	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGGCTGAGAGAATCTCCTTT	0.468000													10	33					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765857	18765857	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765857C>T	ENST00000304081.4	-	4	746	c.646G>A	c.(646-648)Gac>Aac	p.D216N	NT5C1B_ENST00000600945.1_Missense_Mutation_p.D276N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D276N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCGTAGTCGTCCTCGTCCTCC	0.682000													4	14					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240975222	240975222	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:240975222A>T	ENST00000366565.1	-	14	1459	c.1078T>A	c.(1078-1080)Tta>Ata	p.L360I	RGS7_ENST00000331110.7_Missense_Mutation_p.L334I|RGS7_ENST00000366562.4_Missense_Mutation_p.L360I|RGS7_ENST00000366563.1_Missense_Mutation_p.L360I|RGS7_ENST00000401882.1_Missense_Mutation_p.L307I|RGS7_ENST00000366564.1_Missense_Mutation_p.L360I|RGS7_ENST00000446183.2_Missense_Mutation_p.L276I|RGS7_ENST00000348120.2_Missense_Mutation_p.L307I|RGS7_ENST00000407727.1_Missense_Mutation_p.L360I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388000													18	65					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134624471	134624471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:134624471C>A	ENST00000368586.5	-	56	7666	c.7566G>T	c.(7564-7566)gaG>gaT	p.E2522D	TTC40_ENST00000263170.5_Missense_Mutation_p.E683D	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	683										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCTCCACGCTCTCCATGTGCC	0.662000													3	18					0.004672	0.00475164	1	1	0
SLC10A6	345274	broad.mit.edu	37	4	87744876	87744876	+	Missense_Mutation	SNP	G	G	C	rs146262257		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:87744876G>C	ENST00000273905.6	-	6	1246	c.1099C>G	c.(1099-1101)Ctc>Gtc	p.L367V		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	367						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACTGGCTCGAGAGCCCTGTGG	0.542000													7	37					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58863848	58863848	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:58863848C>T	ENST00000263100.3	-	4	475	c.414G>A	c.(412-414)gtG>gtA	p.V138V	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	138	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CACCTCGGCACACTGCTGTTG	0.627000													49	193					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175417	55175417	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:55175417T>G	ENST00000391736.1	+	5	591	c.276T>G	c.(274-276)taT>taG	p.Y92*	LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Y92*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	92	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAGAGGACTATGCAGGGAGAT	0.572000													34	209					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661768	44661768	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:44661768T>C	ENST00000426739.2	+	6	1857	c.1599T>C	c.(1597-1599)gtT>gtC	p.V533V	ZNF234_ENST00000592437.1_Silent_p.V533V	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATCAGAGAGTTCACAGTGGGG	0.463000													26	98					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740266	53740266	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:53740266T>G	ENST00000333952.4	-	5	1879	c.1714A>C	c.(1714-1716)Aaa>Caa	p.K572Q	ZNF677_ENST00000598513.1_Missense_Mutation_p.K572Q			Q86XU0	ZN677_HUMAN	zinc finger protein 677	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCATTATATTTGATATGTTTT	0.294000													4	16					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70141059	70141059	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:70141059G>C	ENST00000388768.2	-	11	1468	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	RUFY2_ENST00000399200.2_Missense_Mutation_p.T312S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288S|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	395						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCTATCAGAGTATCTTGTTT	0.363000													17	86					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6719166	6719166	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:6719166A>T	ENST00000338694.2	-	4	601	c.472T>A	c.(472-474)Tcc>Acc	p.S158T	TEKT1_ENST00000535086.1_Missense_Mutation_p.S12T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	158					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATCTGCTCGGAAGCCTCCTCC	0.537000													10	28					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28261263	28261263	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:28261263C>G	ENST00000354638.3	-	8	1032	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	OCA2_ENST00000353809.5_Missense_Mutation_p.E293Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E293Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	293					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCAGTACCTCAAAGGTCCTG	0.502000									Oculocutaneous Albinism				11	43					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123166800	123166800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:123166800C>T	ENST00000462833.1	-	1	1805	c.593G>A	c.(592-594)gGg>gAg	p.G198E		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	198					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		cgcgccgggccccgcgcccgA	0.746000													6	13					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776663	2776663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:2776663G>A	ENST00000380605.2	-	10	1451	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	463					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGGGCAATGGCAGGTGATGG	0.572000													19	122					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149497458	149497458	+	RNA	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:149497458C>A	ENST00000378016.2	+	0	7216							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCGTGGAACAGGCGCAGGT	0.687000													12	29					2.31682e-05	2.46852e-05	1	1	0
KRT12	3859	broad.mit.edu	37	17	39021183	39021183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:39021183C>T	ENST00000251643.4	-	3	705	c.682G>A	c.(682-684)Gta>Ata	p.V228I		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	228	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TCGGCCTCTACGCCCTGGCGC	0.572000													21	74					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702151	6702151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:6702151C>T	ENST00000245907.6	-	19	2519	c.2427G>A	c.(2425-2427)atG>atA	p.M809I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	809					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCTTGTCCGACATGCTCACAG	0.498000													15	52					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180193	34180193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:34180193G>A	ENST00000262622.3	+	2	784	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	CHST8_ENST00000434302.1_Missense_Mutation_p.R9Q|CHST8_ENST00000438847.2_Missense_Mutation_p.R9Q|CHST8_ENST00000604556.1_Missense_Mutation_p.R9Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	9					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.R9Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GGAACAATGCGGCTGGCCTGC	0.642000													19	103					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889300	15889300	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:15889300G>A	ENST00000285670.2	-	4	570	c.396C>T	c.(394-396)ggC>ggT	p.G132G	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G64G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	64					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TACCCAAACCGCCTCCATTAT	0.338000													8	18					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131343203	131343203	+	Silent	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr9:131343203G>T	ENST00000372739.3	+	11	1436	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SPTAN1_ENST00000372731.4_Silent_p.L442L|SPTAN1_ENST00000358161.5_Silent_p.L442L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	442					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCCCAAGCTGACCGTCCTTT	0.592000													12	40					2.61681e-11	3.022e-11	1	1	0
COL23A1	91522	broad.mit.edu	37	5	177715332	177715332	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:177715332C>T	ENST00000390654.3	-	5	791	c.434G>A	c.(433-435)gGc>gAc	p.G145D	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	145	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TACCGGGTAGCCATCTCGTCC	0.418000													48	134					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170587	90170587	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:90170587T>C	ENST00000333209.3	-	2	1193	c.675A>G	c.(673-675)ggA>ggG	p.G225G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	225										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CACAGATGGCTCCCTGCCTTT	0.542000													7	57					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337979	13337979	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:13337979T>C	ENST00000380622.2	-	1	539	c.75A>G	c.(73-75)ggA>ggG	p.G25G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	25	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TAAAATATTCTCCTTGCAATA	0.418000													11	85					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	52					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237011	113237011	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr8:113237011T>G	ENST00000297405.5	-	71	11357	c.11113A>C	c.(11113-11115)Aca>Cca	p.T3705P	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3635P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3665P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3536P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3705						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATACCATTGTGCAAACCGTG	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			63	88					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83119453	83119453	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:83119453T>A	ENST00000307792.3	-	2	720	c.253A>T	c.(253-255)Aga>Tga	p.R85*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R25*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	85	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCACTGATTCTCTCCAAGCTG	0.403000													10	50					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879474	196879474	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:196879474G>A	ENST00000367416.2	+	6	997	c.860G>A	c.(859-861)aGa>aAa	p.R287K	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AATACGCGTAGACCATACTTT	0.343000													7	52					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552569	95552569	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:95552569C>A	ENST00000371418.4	+	6	833	c.573C>A	c.(571-573)acC>acA	p.T191T	LGI1_ENST00000542308.1_Silent_p.T143T|LGI1_ENST00000371413.3_Silent_p.T191T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	191	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTGGCCACACCAATGCAACTG	0.438000													29	133					3.73148e-12	4.33724e-12	1	1	0
PDK4	5166	broad.mit.edu	37	7	95222162	95222162	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:95222162C>A	ENST00000005178.5	-	4	636	c.439G>T	c.(439-441)Gtt>Ttt	p.V147F		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	147	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ACTGGGTCAACTGTACAGGCA	0.388000													15	49					7.93312e-07	8.60623e-07	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676227	123676227	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:123676227C>A	ENST00000309154.2	-	1	868	c.831G>T	c.(829-831)gtG>gtT	p.V277V		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGGGGTCACCACTGTGATGA	0.473000													21	90					3.85864e-22	4.66687e-22	1	1	0
INPP4A	3631	broad.mit.edu	37	2	99179952	99179952	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:99179952C>A	ENST00000074304.5	+	19	2288	c.1895C>A	c.(1894-1896)cCg>cAg	p.P632Q	INPP4A_ENST00000409851.3_Missense_Mutation_p.P627Q|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593Q|INPP4A_ENST00000545415.1_Missense_Mutation_p.P593Q|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593Q	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	632					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCCTTTACCCGCTGCTGACC	0.532000													8	21					0.000157383	0.000165715	1	1	0
NEXN	91624	broad.mit.edu	37	1	78408471	78408471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:78408471C>T	ENST00000330010.8	+	12	2090	c.1793C>T	c.(1792-1794)tCt>tTt	p.S598F	NEXN_ENST00000334785.7_Missense_Mutation_p.S662F|NEXN_ENST00000457030.1_Missense_Mutation_p.S648F|NEXN_ENST00000480732.1_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	662	Ig-like.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATAAAGGATCTGCAGCTAGT	0.313000													7	44					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266460	65266460	+	RNA	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:65266460T>C	ENST00000534336.1	+	0	1228					NR_002819.2																						GTGATCGAATTCCGGTGATGC	0.502000													29	115					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677137	7677137	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:7677137C>A	ENST00000446248.2	+	13	1940	c.1839C>A	c.(1837-1839)ccC>ccA	p.P613P	CAMSAP3_ENST00000160298.4_Silent_p.P586P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	586					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGGGGTCCCCCACGTCCACTC	0.652000													3	11					6.4e-05	6.7787e-05	1	1	0
IGFBP6	3489	broad.mit.edu	37	12	53495921	53495921	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:53495921C>T	ENST00000548547.1	+	4	969	c.687C>T	c.(685-687)agC>agT	p.S229S	IGFBP6_ENST00000301464.3_Silent_p.S231S|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	231	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GCAATGGAAGCTCCTCCTGCC	0.622000													15	38					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102470995	102470995	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:102470995G>C	ENST00000360184.4	+	24	5188	c.5024G>C	c.(5023-5025)gGt>gCt	p.G1675A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1675	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTTGTTTTGGGTATTTCATCT	0.353000													6	38					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57113701	57113701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:57113701G>A	ENST00000454682.1	-	3	1894	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S538F|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	12					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCTTCAAGAGAGGCAGGTAC	0.493000			T	BCL6	NHL								14	48					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61504723	61504723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr11:61504723C>T	ENST00000257215.5	+	14	1557	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	481					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGCTGCCATCCTCTCCTTCCT	0.647000													60	283					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53224437	53224437	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:53224437T>C	ENST00000452825.3	-	19	3607	c.3075A>G	c.(3073-3075)aaA>aaG	p.K1025K	KDM5C_ENST00000404049.3_Silent_p.K1091K|KDM5C_ENST00000375379.3_Silent_p.K1092K|KDM5C_ENST00000375383.3_Silent_p.K1051K|KDM5C_ENST00000375401.3_Silent_p.K1092K	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1092					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGCAAGAATTTTTCTTGAGGA	0.562000			"""N, F, S"""		clear cell renal carcinoma								4	10					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527154	32527154	+	RNA	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:32527154A>G	ENST00000428783.1	+	0	854																											GGCAGCGACAATGAGGCAACA	0.597000													13	56					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120193152	120193152	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:120193152A>G	ENST00000450251.1	+	12	2681	c.2137A>G	c.(2137-2139)Atg>Gtg	p.M713V	USP53_ENST00000274030.6_Missense_Mutation_p.M713V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	713					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGGTACAGTAATGGATATCAG	0.363000													25	101					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062700	48062700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:48062700G>A	ENST00000316364.5	+	19	2379	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	SEMA6D_ENST00000537942.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D584N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R604Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R628Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R585Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R647Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R572Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R591Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D584N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	647					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCAGGTGTACGATGGGAAGTC	0.423000													11	84					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688556	131688556	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:131688556A>T	ENST00000409359.1	+	3	3792	c.2594A>T	c.(2593-2595)gAg>gTg	p.E865V	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E9V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E9V|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.E9V			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	9					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCAGCAGGTGAGAAGCCCAGT	0.572000													13	60					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													5	67					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817705	200817705	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:200817705C>G	ENST00000358823.2	+	11	2078	c.1808C>G	c.(1807-1809)aCt>aGt	p.T603S	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T614S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T587S	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	614						cytoplasm|microtubule	protein binding										AGTCCCATAACTGACAATACT	0.353000													18	46					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103558659	103558659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:103558659T>G	ENST00000361464.3	-	9	2144	c.1749A>C	c.(1747-1749)caA>caC	p.Q583H	MGEA5_ENST00000439817.1_Missense_Mutation_p.Q530H|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q583H|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q530H	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	583	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCGAAGCCATTGAAATTCCC	0.453000													8	69					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105260482	105260482	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:105260482G>T	ENST00000306107.5	+	8	1364	c.864G>T	c.(862-864)caG>caT	p.Q288H	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.Q237H|ALCAM_ENST00000472644.2_Missense_Mutation_p.Q288H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	288	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGGGACAGCCCGAAGGAA	0.393000													8	33					0.00448238	0.00461119	1	1	0
CT45A5	441521	broad.mit.edu	37	X	134947936	134947936	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:134947936A>T	ENST00000370724.3	-	3	633	c.389T>A	c.(388-390)gTa>gAa	p.V130E	CT45A5_ENST00000491480.1_Missense_Mutation_p.V130E|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	130										endometrium(1)|large_intestine(2)|lung(6)	9						TTCCTTCACTACTTGACATTT	0.383000													28	111					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299149	45299149	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:45299149C>G	ENST00000354968.1	+	5	543	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	MYL4_ENST00000572316.1_Missense_Mutation_p.L139V|MYL4_ENST00000393450.1_Missense_Mutation_p.L139V	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	139	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CGTGGAGGGCCTGCGTGTCTT	0.567000													23	71					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115978244	115978244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:115978244G>T	ENST00000251864.2	+	18	2548	c.2395G>T	c.(2395-2397)Gat>Tat	p.D799Y	TDRD1_ENST00000369280.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D403Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	799	Tudor 3.				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)		ACATTTTGTGGATTATGGAAA	0.393000													22	76					1.2644e-06	1.36342e-06	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13828685	13828685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:13828685C>T	ENST00000279593.3	-	4	1328	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	373					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTACCCTTTCCCACTTCCTCT	0.413000													10	55					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153583376	153583376	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153583376C>A	ENST00000422373.1	-	30	5258	c.5010G>T	c.(5008-5010)gcG>gcT	p.A1670A	FLNA_ENST00000360319.4_Silent_p.A1670A|FLNA_ENST00000369850.3_Silent_p.A1678A|FLNA_ENST00000344736.4_Silent_p.A1670A|FLNA_ENST00000369856.3_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1678					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTTGCCTGCCGCCTTAGTGT	0.612000											OREG0003595	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	101					3.41278e-10	3.91595e-10	1	1	0
EMD	2010	broad.mit.edu	37	X	153609536	153609536	+	Silent	SNP	T	T	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:153609536T>G	ENST00000369842.4	+	6	1032	c.744T>G	c.(742-744)gcT>gcG	p.A248A	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A213A	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	248					cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATGCAGGCTGAAGAAGGCA	0.592000													9	58					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765864	18765864	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr2:18765864C>G	ENST00000304081.4	-	4	739	c.639G>C	c.(637-639)gaG>gaC	p.E213D	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E273D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E273D	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGTCCTCGTCCTCCCGCTGCT	0.677000													6	12					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24641964	24641964	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:24641964C>T	ENST00000311457.3	+	3	698	c.99C>T	c.(97-99)taC>taT	p.Y33Y	REC8_ENST00000559919.1_Silent_p.Y33Y			O95072	REC8_HUMAN	REC8 meiotic recombination protein	33					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCGAATACCTGAGGGTGA	0.637000													14	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	22					0.0293803	0.0297123	1	1	0
KRT86	3892	broad.mit.edu	37	12	52699156	52699156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:52699156C>T	ENST00000293525.5	+	5	920	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	KRT86_ENST00000544024.1_Missense_Mutation_p.R290W|KRT86_ENST00000423955.2_Missense_Mutation_p.R290W	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	290	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCCGTAGCCGGGCTGAGGC	0.547000													13	56					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081772	67081772	+	Silent	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:67081772A>T	ENST00000284425.2	-	31	4197	c.4023T>A	c.(4021-4023)gcT>gcA	p.A1341A	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1341	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTACCTCTCCAGCAGTTGGCT	0.348000													8	34					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349725	100349725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:100349725T>C	ENST00000372930.4	+	2	567	c.284T>C	c.(283-285)cTg>cCg	p.L95P	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	95						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTCTTCCTACTGTTGCTGGTG	0.552000													33	161					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100518604	100518604	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr13:100518604C>A	ENST00000376355.3	+	5	674	c.643C>A	c.(643-645)Cga>Aga	p.R215R	CLYBL_ENST00000444838.2_Silent_p.R215R|CLYBL_ENST00000376360.1_Silent_p.R249R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000339105.4_Silent_p.R249R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	249					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATTGACTTTCGAGATGGAGC	0.468000													30	87					8.4185e-14	9.97955e-14	1	1	0
FTHL17	53940	broad.mit.edu	37	X	31090069	31090069	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:31090069A>T	ENST00000359202.3	-	1	101	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	1					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.M1T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCGGTGGCCATGGCGGGCAG	0.647000													13	42					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49204343	49204343	+	Silent	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:49204343C>A	ENST00000327979.2	-	21	3147	c.2736G>T	c.(2734-2736)tcG>tcT	p.S912S	FAM65C_ENST00000535356.1_Silent_p.S916S|FAM65C_ENST00000462842.1_5'UTR|FAM65C_ENST00000045083.2_Silent_p.S912S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	912										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTACCGAACGACAGTGTGG	0.612000											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	63					2.27111e-07	2.49404e-07	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436216	248436216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:248436216G>C	ENST00000318021.2	-	1	922	c.901C>G	c.(901-903)Cgg>Ggg	p.R301G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCAGCCACCGTTTCAGGGCT	0.443000													39	160					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28702085	28702085	+	Silent	SNP	G	G	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:28702085G>A	ENST00000545336.1	+	16	1724	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	CCDC91_ENST00000306172.5_Silent_p.T405T|CCDC91_ENST00000381259.1_Silent_p.T435T|CCDC91_ENST00000539107.1_Silent_p.T399T|CCDC91_ENST00000381256.1_Silent_p.T399T|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	435					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TAATAGCTACGGAACCAGTTG	0.383000													15	100					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653294	110653294	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:110653294C>A	ENST00000338081.3	-	2	747	c.576G>T	c.(574-576)agG>agT	p.R192S	DCX_ENST00000488120.1_Missense_Mutation_p.R111S|DCX_ENST00000371993.2_Missense_Mutation_p.R111S|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R111S|DCX_ENST00000356220.3_Missense_Mutation_p.R111S	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	192	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTCCGATCTTCCTGGATCCAT	0.502000													21	115					1.28384e-07	1.41856e-07	1	1	0
XIST	7503	broad.mit.edu	37	X	73068802	73068802	+	RNA	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:73068802T>C	ENST00000429829.1	-	0	3786					NR_001564.2																						TATCCATTAATATTCCAAGGG	0.388000													8	30					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13839998	13839998	+	Silent	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr20:13839998T>C	ENST00000284951.5	-	18	1802	c.1728A>G	c.(1726-1728)acA>acG	p.T576T	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	576						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGCTGTAGTGTGTGGCTGCTG	0.403000													9	42					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85696000	85696000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:85696000C>T	ENST00000322366.6	-	29	5134	c.4727G>A	c.(4726-4728)gGt>gAt	p.G1576D	WDFY3_ENST00000295888.4_Missense_Mutation_p.G1576D			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1576						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTAGGAAAACCTTGCAGTAA	0.388000													14	53					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919109	154919109	+	Silent	SNP	C	C	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr1:154919109C>T	ENST00000368463.3	-	10	1112	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	PBXIP1_ENST00000539880.1_Silent_p.R174R|PBXIP1_ENST00000368465.1_Silent_p.R318R|PBXIP1_ENST00000542459.1_Silent_p.R192R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	347					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATCTGGGCCCCGGACACAGT	0.697000													13	59					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40667757	40667757	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:40667757T>A	ENST00000342449.3	-	7	599	c.521A>T	c.(520-522)cAg>cTg	p.Q174L	BRWD1_ENST00000333229.2_Missense_Mutation_p.Q174L|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q174L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTATATGCTGATACATAGT	0.363000													3	68					0	0	1	0	0
CCDC7	221016	broad.mit.edu	37	10	32740647	32740647	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:32740647T>C	ENST00000545067.1	+	2	373	c.77T>C	c.(76-78)cTa>cCa	p.L26P	CCDC7_ENST00000539197.1_Missense_Mutation_p.L26P|CCDC7_ENST00000537047.1_Missense_Mutation_p.L26P|CCDC7_ENST00000277657.6_Missense_Mutation_p.L26P|CCDC7_ENST00000362006.5_Missense_Mutation_p.L26P|CCDC7_ENST00000535327.1_Missense_Mutation_p.L26P			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	26										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAAAAAGGACTACATAATTTA	0.348000													3	64					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25635063	25635065	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:25635063_25635065delAAT	ENST00000330688.4	+	6	1277_1279	c.856_858delAAT	c.(856-858)del	p.N286del	RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_In_Frame_Del_p.N174del|RARB_ENST00000404969.1_In_Frame_Del_p.N293del|RARB_ENST00000458646.1_In_Frame_Del_p.N174del	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	293	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCTTACCCTAAATCGAACTCAGA	0.443													30	78	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													2	4	---	---	---	---					
THAP9	79725	broad.mit.edu	37	4	83828954	83828955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr4:83828954_83828955insT	ENST00000302236.5	+	4	648_649	c.597_598insT	c.(595-600)ttataafs	p.L*199fs		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	199							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGTGGGAGTTATATAATTGGAG	0.292													12	36	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150947521	150947522	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:150947521_150947522delCT	ENST00000261800.5	-	1	983_984	c.971_972delAG	c.(970-972)gfs	p.E324fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	324					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGAAGGTACTCCATCCAGTT	0.505													30	124	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176707765	176707766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr5:176707765_176707766insT	ENST00000439151.2	+	18	5867_5868	c.5822_5823insT	c.(5821-5823)tccfs	p.S1941fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.S1838fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.S1672fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.S1672fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1941	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGCGCCAATATCCAGAGGTTG	0.465			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	50	---	---	---	---					
C6orf203	51250	broad.mit.edu	37	6	107361060	107361061	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr6:107361060_107361061insT	ENST00000443043.1	+	3	786_787	c.111_112insT	c.(109-114)tcacaafs	p.Q38fs	C6orf203_ENST00000405204.2_Frame_Shift_Ins_p.Q33fs|C6orf203_ENST00000311381.5_Frame_Shift_Ins_p.Q33fs	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	33										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		CACCTTCATCATACAAACTCTG	0.411													26	76	---	---	---	---					
FSCN1	6624	broad.mit.edu	37	7	5632884	5632885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr7:5632884_5632885insG	ENST00000382361.3	+	1	431_432	c.317_318insG	c.(316-318)ggcfs	p.G106fs	FSCN1_ENST00000340250.6_Frame_Shift_Ins_p.G85fs	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	106					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CTGCAGTCCGAGGCGCACCGGC	0.698													8	13	---	---	---	---					
A1CF	29974	broad.mit.edu	37	10	52573711	52573712	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:52573711_52573712insT	ENST00000395489.2	-	12	1627_1628	c.1231_1232insA	c.(1231-1233)agafs	p.R411fs	A1CF_ENST00000373995.3_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.R410fs|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.R363fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	418					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						TTTGTCTTCTCTTTTGTCTCCT	0.515													17	96	---	---	---	---					
FAM35A	54537	broad.mit.edu	37	10	88912464	88912465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr10:88912464_88912465insT	ENST00000298786.4	+	3	1467_1468	c.1353_1354insT	c.(1351-1356)ccgccafs	p.P452fs	FAM35A_ENST00000298784.1_Frame_Shift_Ins_p.P452fs			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	452										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TGCTATCTCCATGCCATGTGAA	0.312													8	16	---	---	---	---					
SLC38A4	55089	broad.mit.edu	37	12	47172111	47172112	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:47172111_47172112insA	ENST00000447411.1	-	11	1239_1240	c.1033_1034insT	c.(1033-1035)ccafs	p.P345fs	SLC38A4_ENST00000266579.4_Frame_Shift_Ins_p.P345fs	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	345					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTCAGGGTGGCATACAAAAGCA	0.406													14	73	---	---	---	---					
CIT	11113	broad.mit.edu	37	12	120262979	120262981	+	In_Frame_Del	DEL	ATA	ATA	-	rs149407793	by1000genomes	TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr12:120262979_120262981delATA	ENST00000392521.2	-	8	1000_1002	c.945_947delTAT	c.(943-948)atg>at	p.IM315del	CIT_ENST00000261833.7_In_Frame_Del_p.IM315del	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	315	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGAAATTCATAATGTTATTGA	0.463													19	82	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23345929	23345930	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:23345929_23345930insA	ENST00000359591.4	+	6	2147_2148	c.1456_1457insA	c.(1456-1458)gatfs	p.D486fs	LRP10_ENST00000546834.1_Frame_Shift_Ins_p.D486fs|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	486					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GATGGAGGCTGAGATTGTGCAG	0.559													17	92	---	---	---	---					
PAPOLA	10914	broad.mit.edu	37	14	97031283	97031299	+	Splice_Site	DEL	CATTCTCAGAAAACATC	CATTCTCAGAAAACATC	-	rs79835114		TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr14:97031283_97031299delCATTCTCAGAAAACATC	ENST00000216277.8	+	22	2362_2370	c.2142_splice	c.e22-1	p.Q714_splice	PAPOLA_ENST00000392990.2_Splice_Site_p.Q693_splice	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	714	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCTTTGCTTTCATTCTCAGAAAACATCCAGTACAGAC	0.346													8	76	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25328182	25328183	+	RNA	DEL	AC	AC	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr15:25328182_25328183delAC	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CTGCAAGGTAACACACACACAC	0.475													2	4	---	---	---	---					
SUZ12P1	440423	broad.mit.edu	37	17	29086616	29086616	+	RNA	DEL	A	A	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr17:29086616delA	ENST00000582557.1	+	0	1064																											TTGTGAATGTAAAAAAAAAGT	0.299													2	4	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10610334	10610335	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:10610334_10610335insA	ENST00000171111.5	-	2	922_923	c.375_376insT	c.(373-378)atagggfs	p.G126fs	KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G126fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	126	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGATACCCTCAATGGACACCA	0.594													13	57	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15276206	15276207	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:15276206_15276207insA	ENST00000263388.2	-	31	5862_5863	c.5787_5788insT	c.(5785-5790)cactgafs	p.*1930fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1930					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGACATCAGCATGGCTGGCGA	0.574													11	81	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gac>ga	p.ED710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													7	165	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294													5	9	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-A6JU-01A-11D-A31L-08	TCGA-CV-A6JU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d613ee7-dac3-4914-bd65-b4f8496a97c2	d123d1de-8bfa-4df3-9ec2-e7f165df4228	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)del	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)			8	603	---	---	---	---					
