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
KIT	3815	broad.mit.edu	37	4	55594221	55594221	+	Missense_Mutation	SNP	A	A	G	rs121913512		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:55594221A>G	ENST00000288135.5	+	13	2021	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	642	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K642E(25)|p.K642Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGAACTCAAAGTCCTGAG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				122	137					0	0	1	0	0
BIRC5	332	broad.mit.edu	37	17	76212766	76212766	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:76212766G>C	ENST00000600484.1	-	6	830	c.831C>G	c.(829-831)gaC>gaG	p.D277E	BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_Silent_p.S81S|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000301633.4_Silent_p.S104S																							AAAAGCATTCGTCCGGTTGCG	0.448000													12	76					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37173934	37173934	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:37173934C>T	ENST00000274258.7	-	32	6321	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E2032K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2032K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2032										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCCGTGAATTCATTTCTCTGG	0.398000													11	94					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9458656	9458656	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:9458656C>G	ENST00000281419.3	+	4	689	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q117E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	117					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TTTTTAGATTCAGAATATGAA	0.393000													3	15					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825590	825590	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:825590A>T	ENST00000293892.3	-	5	1170	c.1171T>A	c.(1171-1173)Tgg>Agg	p.W391R	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	110					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTCAGGCCCCAGTCCCCACCC	0.706000													6	23					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82989807	82989807	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82989807C>G	ENST00000529689.1	-	3	720	c.286G>C	c.(286-288)Gat>Cat	p.D96H	CCDC90B_ENST00000529073.1_Missense_Mutation_p.D96H|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D87H|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	96						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TAGATAGTATCCAGGCTGACA	0.328000													66	107					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831454	47831454	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:47831454C>G	ENST00000359568.5	+	28	5574	c.5467C>G	c.(5467-5469)Cgc>Ggc	p.R1823G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1823					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTGCAGCAGCGCCTCCAGGG	0.697000													4	23					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826367	102826367	+	Missense_Mutation	SNP	G	G	A	rs148856037		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:102826367G>A	ENST00000260302.3	-	1	96	c.68C>T	c.(67-69)cCc>cTc	p.P23L	MMP13_ENST00000340273.4_Missense_Mutation_p.P23L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	23					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACCACCACTGGGAAGGGGCAG	0.517000													20	740					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325027	162325027	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:162325027A>T	ENST00000361897.5	+	7	1048	c.646A>T	c.(646-648)Act>Tct	p.T216S	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T211S	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	216					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGCAGAGGAGACTGACATCGA	0.582000													15	57					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	rs142359154		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:150901209G>A	ENST00000261800.5	-	18	10957	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3649					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)			TGCAGGTTCCGCCAGTGGTCA	0.607000													20	30					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56322100	56322100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:56322100C>T	ENST00000309964.4	-	12	1196	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CLOCK_ENST00000513440.1_Missense_Mutation_p.D316N|CLOCK_ENST00000381322.1_Missense_Mutation_p.D316N	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	316	PAS 2.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCTAGGTCATCCACATGATAG	0.348000													6	238					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180699	20180699	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:20180699A>G	ENST00000400331.5	-	7	2737	c.2429T>C	c.(2428-2430)cTt>cCt	p.L810P	MACC1_ENST00000332878.4_Missense_Mutation_p.L810P|MACC1_ENST00000589011.1_Missense_Mutation_p.L810P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	810					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGCTGACTGAAGGTCTTGTAA	0.353000													8	122					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672004	186672004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:186672004G>A	ENST00000343098.5	+	17	18238	c.18238G>A	c.(18238-18240)Gcc>Acc	p.A6080T	FSIP2_ENST00000424728.1_Missense_Mutation_p.A5991T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.A689T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCAAAAGTTGGCCCAAACAGC	0.353000													13	72					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380925	78380925	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380925C>A	ENST00000278550.7	-	32	6927	c.6465G>T	c.(6463-6465)caG>caT	p.Q2155H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGATCTCATACTGCACTTCCT	0.468000													14	82					4.36969e-10	4.67314e-10	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													3	35					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47563064	47563064	+	Missense_Mutation	SNP	G	G	A	rs142329918		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:47563064G>A	ENST00000273859.3	+	14	2909	c.2640G>A	c.(2638-2640)atG>atA	p.M880I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	880					ATP biosynthetic process|cation transport	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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATCTGCCATGAGGTTGGAGA	0.378000													12	103					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380288	78380288	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380288C>T	ENST00000278550.7	-	32	7564	c.7102G>A	c.(7102-7104)Gct>Act	p.A2368T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTAAAGACAGCAAGAGGGGTC	0.478000													35	255					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475156	32475156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:32475156C>T	ENST00000404025.2	-	5	2265	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	NLRC4_ENST00000402280.1_Missense_Mutation_p.D593N|NLRC4_ENST00000360906.5_Missense_Mutation_p.D593N|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	593					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.D593N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATAAGTAATCGGGGATGTTC	0.398000													30	49					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156349163	156349163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:156349163G>A	ENST00000274532.2	-	7	1015	c.959C>T	c.(958-960)gCc>gTc	p.A320V	TIMD4_ENST00000406964.1_Missense_Mutation_p.A22V|TIMD4_ENST00000407087.3_Missense_Mutation_p.A292V	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	320						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGAGGGGGCGATGATCAT	0.527000													3	32					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833659	31833659	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr6:31833659C>T	ENST00000544672.1	-	14	1546	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R451H|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R493H	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	493						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCGGAGTGTGCGGATGAAGGC	0.607000													4	79					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380168	78380168	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380168C>A	ENST00000278550.7	-	32	7684	c.7222G>T	c.(7222-7224)Gat>Tat	p.D2408Y		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGAGTGGATCATAGAGGCCA	0.517000													16	67					1.52009e-12	1.6721e-12	1	1	0
TIGD7	91151	broad.mit.edu	37	16	3349757	3349757	+	Silent	SNP	G	G	A	rs148242088		TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:3349757G>A	ENST00000396862.1	-	2	2686	c.858C>T	c.(856-858)gaC>gaT	p.D286D	TIGD7_ENST00000268674.2_Silent_p.D286D	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	286	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGACGTCCTCGTCATGAAATC	0.413000													19	43					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74872667	74872667	+	Silent	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:74872667C>T	ENST00000241436.4	+	6	775	c.603C>T	c.(601-603)taC>taT	p.Y201Y	POLK_ENST00000504026.1_Silent_p.Y201Y|POLK_ENST00000352007.5_Silent_p.Y201Y|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Silent_p.Y201Y|POLK_ENST00000508526.1_Silent_p.Y201Y|POLK_ENST00000380481.3_Silent_p.Y111Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	201	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATGAAGCCTACTTGAATATAA	0.338000								DNA polymerases (catalytic subunits)					13	22					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025091	130025091	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:130025091A>T	ENST00000011292.3	+	8	1042	c.892A>T	c.(892-894)Aac>Tac	p.N298Y	CPA1_ENST00000484324.1_Missense_Mutation_p.N210Y	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	298					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GGACCATGGGAACATCAAGGC	0.527000													5	101					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329228	18329228	+	Silent	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:18329228G>A	ENST00000355502.3	-	14	2017	c.1146C>T	c.(1144-1146)caC>caT	p.H382H	PDE4C_ENST00000447275.2_Silent_p.H276H|PDE4C_ENST00000594465.2_Silent_p.H382H|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Silent_p.H151H|PDE4C_ENST00000262805.11_Silent_p.H350H|PDE4C_ENST00000594617.2_Silent_p.H382H			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	382					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCACATTGGCGTGGTAGTGAC	0.617000													10	153					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25077538	25077538	+	Silent	SNP	G	G	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr14:25077538G>T	ENST00000216338.4	-	2	180	c.136C>A	c.(136-138)Cgg>Agg	p.R46R	GZMH_ENST00000382548.4_Silent_p.R46R|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Silent_p.R46R	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	46	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACCTCTTCCGACTCTTCTCT	0.562000													5	189					0.000157383	0.000159454	1	1	0
EPB41L1	2036	broad.mit.edu	37	20	34800252	34800252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr20:34800252C>T	ENST00000338074.2	+	16	2299	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	EPB41L1_ENST00000202028.5_Missense_Mutation_p.P639L|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P713L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P639L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P533L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.P604L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	713					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGATTGAGCCGGAGGCCGTA	0.493000													8	73					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939474	47939474	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:47939474G>T	ENST00000402813.3	-	10	1386	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	CNGA1_ENST00000544810.1_Missense_Mutation_p.A346D|CNGA1_ENST00000358519.4_Missense_Mutation_p.A346D|CNGA1_ENST00000420489.2_Missense_Mutation_p.A346D|CNGA1_ENST00000514170.1_Missense_Mutation_p.A346D			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	346					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTATTTTCTAGCCAAACGGCC	0.418000													8	139					3.09899e-07	3.26879e-07	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465813	10465813	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr8:10465813T>A	ENST00000382483.3	-	4	6018	c.5795A>T	c.(5794-5796)gAg>gTg	p.E1932V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1932					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGACTCTGGCTCGTCCTCCCC	0.607000													18	185					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107512	26107512	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:26107512T>A	ENST00000374332.4	+	10	1889	c.1559T>A	c.(1558-1560)aTc>aAc	p.I520N	MAN1C1_ENST00000374329.1_Missense_Mutation_p.I291N|MAN1C1_ENST00000263979.3_Missense_Mutation_p.I340N	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	520					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTACTACATCCTCCGGCCA	0.612000													4	81					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40321635	40321635	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:40321635G>A	ENST00000264661.3	-	9	1782	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	KCNH4_ENST00000607371.1_Missense_Mutation_p.R484C	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	484					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGCGAGCGGCGCGAGTACATG	0.647000													7	63					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr10:34985290C>T	ENST00000374789.3	-	2	503	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_ENST00000374773.1_Missense_Mutation_p.D60N|PARD3_ENST00000374776.1_Missense_Mutation_p.D60N|PARD3_ENST00000374788.3_Missense_Mutation_p.D60N|PARD3_ENST00000545260.1_Missense_Mutation_p.D60N|PARD3_ENST00000340077.5_Missense_Mutation_p.D60N|PARD3_ENST00000545693.1_Missense_Mutation_p.D60N|PARD3_ENST00000374790.3_Missense_Mutation_p.D60N|PARD3_ENST00000350537.4_Missense_Mutation_p.D60N|PARD3_ENST00000346874.4_Missense_Mutation_p.D60N|PARD3_ENST00000374794.3_Missense_Mutation_p.D60N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	60					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408000													5	164					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45954714	45954714	+	Splice_Site	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr10:45954714C>T	ENST00000453424.2	-	7	1532	c.1269_splice	c.e7-1	p.W424_splice	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Splice_Site_p.W142_splice|MARCH8_ENST00000395769.2_Splice_Site_p.W142_splice|MARCH8_ENST00000319836.3_Splice_Site_p.W142_splice			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	142						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CAACTTCTCCCACTAGAAAGA	0.532000													6	52					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50165584	50165584	+	Splice_Site	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:50165584C>T	ENST00000597198.1	-	6	984	c.601_splice	c.e6-1	p.E201_splice	IRF3_ENST00000600911.1_Splice_Site_p.E201_splice|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Splice_Site_p.E201_splice|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Splice_Site_p.E55_splice|IRF3_ENST00000599144.1_Splice_Site_p.E55_splice|IRF3_ENST00000309877.7_Splice_Site_p.E201_splice|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000601291.1_Splice_Site_p.E201_splice|IRF3_ENST00000598808.1_Splice_Site_p.E55_splice			Q14653	IRF3_HUMAN	interferon regulatory factor 3	201	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CGAACTCCCACTCTGAGCAGC	0.662000													5	54					0	0	1	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077303	45077303	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:45077303G>T	ENST00000296130.4	+	3	676	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.D124Y	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	166	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCGCAACCCGATGGCGGCAA	0.657000													23	53					1.1804e-14	1.35657e-14	1	1	0
PCNT	5116	broad.mit.edu	37	21	47831449	47831449	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr21:47831449A>T	ENST00000359568.5	+	28	5569	c.5462A>T	c.(5461-5463)cAg>cTg	p.Q1821L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1821					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGCCCTGCAGCAGCGCCTC	0.692000													4	23					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676231	73676231	+	Silent	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:73676231G>A	ENST00000264448.6	+	8	2685	c.2574G>A	c.(2572-2574)gcG>gcA	p.A858A	ALMS1_ENST00000409009.1_Silent_p.A816A|ALMS1_ENST00000377715.1_Silent_p.A858A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	858	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.A858A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTCCTCTGCGTCCTCTTCAC	0.488000													4	58					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152576787	152576787	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr6:152576787C>T	ENST00000367255.5	-	103	19800	c.19199G>A	c.(19198-19200)cGt>cAt	p.R6400H	SYNE1_ENST00000265368.4_Missense_Mutation_p.R6400H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6329H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R924H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6329H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6012H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6400					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAAATAAACGTTCTTCAAC	0.448000										HNSCC(10;0.0054)			5	38					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	40					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592235	6592235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:6592235C>T	ENST00000254579.6	+	42	14057	c.13493C>T	c.(13492-13494)aCg>aTg	p.T4498M	DNHD1_ENST00000527990.2_Missense_Mutation_p.T4498M	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4498					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGGTGGGCACGCTACAACGC	0.672000													7	57					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057861	221057861	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:221057861G>A	ENST00000366903.6	+	4	2783	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S	HLX_ENST00000549319.1_Missense_Mutation_p.G214S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	428	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G431delG(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		tgggagcagcggcggcggcgg	0.642000													3	22					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113943774	113943774	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:113943774G>C	ENST00000245796.6	+	5	1765	c.1570G>C	c.(1570-1572)Gcc>Ccc	p.A524P	PSD4_ENST00000441564.2_Missense_Mutation_p.A496P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	524					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGGAACAGCCAGGCCTGC	0.517000													17	18					0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680565	36680565	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:36680565G>A	ENST00000265113.4	+	8	1639	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	SLC1A3_ENST00000381918.3_Missense_Mutation_p.R388K|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	388					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CGCGTCACCAGATTCGTGCTC	0.507000													25	59					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991220	82991220	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991220C>G	ENST00000529689.1	-	2	618	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CCDC90B_ENST00000529073.1_Missense_Mutation_p.D62H|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.D53H|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	62						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				GCATGGGTATCAAAAGTTAAT	0.393000													55	126					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393443	139393443	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr9:139393443A>G	ENST00000277541.6	-	33	6163	c.6088T>C	c.(6088-6090)Tcc>Ccc	p.S2030P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2030					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCAGGGCGGACTTGCCTGCG	0.622000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	83					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380919	78380919	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78380919C>A	ENST00000278550.7	-	32	6933	c.6471G>T	c.(6469-6471)gaG>gaT	p.E2157D		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGCGGAAGATCTCATACTGCA	0.478000													16	84					6.72482e-11	7.29312e-11	1	1	0
GYS1	2997	broad.mit.edu	37	19	49494741	49494741	+	Splice_Site	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:49494741C>T	ENST00000323798.3	-	2	315		c.e2-1		GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Splice_Site|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000541188.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)						glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGCCACCCACTGTGGGCCCA	0.677000													10	193					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412534	105412534	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr14:105412534C>T	ENST00000333244.5	-	7	9373	c.9254G>A	c.(9253-9255)gGc>gAc	p.G3085D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3085						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGACATC	0.632000													6	234					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141644533	141644533	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:141644533C>T	ENST00000286371.3	+	7	1018	c.830C>T	c.(829-831)gCa>gTa	p.A277V	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.A87V|ATP1B3_ENST00000484727.1_3'UTR	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	277					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AAAATCACAGCACGTGCATAG	0.393000													27	90					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146118	38146118	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr8:38146118C>T	ENST00000317025.8	-	19	3905	c.3388G>A	c.(3388-3390)Gct>Act	p.A1130T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A1081T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A1130T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1130	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CGATCTCCAGCTGGGCACACC	0.527000			T	NUP98	AML								20	36					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635998	156635998	+	Silent	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:156635998G>A	ENST00000422843.3	+	2	389	c.237G>A	c.(235-237)ccG>ccA	p.P79P	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	79	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P79P(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAATACCCGTTTCAGGTAA	0.488000			T	SYK	peripheral T-cell lymphoma								8	22					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	56					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546073	82546073	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:82546073C>A	ENST00000423517.2	-	7	11566	c.11229G>T	c.(11227-11229)atG>atT	p.M3743I	PCLO_ENST00000437081.1_Missense_Mutation_p.M463I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3743I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3674					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						AAACTGTGCCCATTGTGCTGA	0.478000													5	102					0.000602214	0.000602214	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121414449	121414449	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:121414449C>A	ENST00000393667.3	-	13	5031	c.4921G>T	c.(4921-4923)Gtg>Ttg	p.V1641L	GOLGB1_ENST00000340645.5_Missense_Mutation_p.V1636L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1636					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACAGCTTCCACCACATGCTGA	0.428000													10	80					2.17888e-05	2.23698e-05	1	1	0
BCAR1	9564	broad.mit.edu	37	16	75263721	75263721	+	Silent	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:75263721G>A	ENST00000546196.1	-	7	3866	c.2214C>T	c.(2212-2214)acC>acT	p.T738T	BCAR1_ENST00000418647.3_Silent_p.T813T|BCAR1_ENST00000393420.6_Silent_p.T785T|BCAR1_ENST00000393422.2_Silent_p.T785T|BCAR1_ENST00000162330.5_Silent_p.T767T|BCAR1_ENST00000542031.2_Silent_p.T765T|BCAR1_ENST00000538440.2_Silent_p.T767T|BCAR1_ENST00000535626.2_Silent_p.T619T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.T785T			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	767					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGCCACGGCGGTAAAGAAGG	0.632000													4	88					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526497	23526497	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:23526497G>T	ENST00000296682.3	+	11	1482	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	434					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGCCCAGGGGATCAGAATCA	0.453000										HNSCC(3;0.000094)			17	85					8.00594e-06	8.3305e-06	1	1	0
TENM4	26011	broad.mit.edu	37	11	78372521	78372521	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:78372521C>T	ENST00000278550.7	-	33	7986	c.7524G>A	c.(7522-7524)atG>atA	p.M2508I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCTGCGTTTTCATCTGTGTGT	0.527000													7	56					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719087	35719087	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:35719087C>T	ENST00000324675.3	-	1	545	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	166						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTCAATGTAGCGGTACCCCAG	0.607000													4	65					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991241	82991241	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991241C>T	ENST00000529689.1	-	2	597	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC90B_ENST00000529073.1_Missense_Mutation_p.E55K|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E46K|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	55						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTCCTTTGTTCTAAAGGAGTT	0.378000													62	130					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													4	24					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90419893	90419893	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr7:90419893A>G	ENST00000406263.1	+	4	774	c.332A>G	c.(331-333)aAt>aGt	p.N111S	CDK14_ENST00000436577.2_Missense_Mutation_p.N28S|CDK14_ENST00000380050.3_Missense_Mutation_p.N157S|CDK14_ENST00000265741.3_Missense_Mutation_p.N139S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	157					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CACAGGGTAAATGGGAAGTTG	0.363000													12	46					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265493	39265493	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr13:39265493T>G	ENST00000280481.7	+	1	4228	c.4012T>G	c.(4012-4014)Tct>Gct	p.S1338A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1338					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAAGACAAATCTTTGGTTTA	0.343000													30	38					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785606	121785606	+	Silent	SNP	G	G	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:121785606G>A	ENST00000261367.7	+	11	3228	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	SNCAIP_ENST00000379536.2_Silent_p.E493E|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.E553E|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.E111E|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Silent_p.E187E|SNCAIP_ENST00000379533.2_Silent_p.E600E|SNCAIP_ENST00000414317.2_Silent_p.E155E			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	553					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAAATCAGAGGGCAAGTCAC	0.428000													6	99					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110384573	110384573	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr4:110384573C>A	ENST00000265175.5	+	2	705	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	SEC24B_ENST00000399100.2_Missense_Mutation_p.P217Q|SEC24B_ENST00000504968.2_Missense_Mutation_p.P248Q	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	217					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAATGCTCCGACTGTTAGG	0.458000													25	57					2.44723e-14	2.77113e-14	1	1	0
LNX2	222484	broad.mit.edu	37	13	28127364	28127364	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr13:28127364T>C	ENST00000316334.3	-	8	1888	c.1759A>G	c.(1759-1761)Atg>Gtg	p.M587V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	587							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCAAGCCACATGACCCATGAT	0.483000													21	58					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991211	82991211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:82991211C>T	ENST00000529689.1	-	2	627	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388000													62	124					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196953	108196953	+	Splice_Site	SNP	G	G	C			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:108196953G>C	ENST00000278616.4	+	47	7360		c.e47+1		ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTGTGCAGCGGTTTGTTTTTT	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	15					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31489524	31489524	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr2:31489524T>G	ENST00000322054.5	+	6	1847	c.1562T>G	c.(1561-1563)cTg>cGg	p.L521R	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	521	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCCAACGAGCTGCCTGCCCAC	0.612000													24	76					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236941	9236941	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr19:9236941G>T	ENST00000305444.2	-	1	685	c.686C>A	c.(685-687)cCa>cAa	p.P229Q		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAGCTGATGGAATTTTCAT	0.423000													14	158					1.52009e-12	1.6721e-12	1	1	0
MACF1	23499	broad.mit.edu	37	1	39906910	39906911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:39906910_39906911insA	ENST00000564288.1	+	74	19362_19363	c.18585_18586insA	c.(18583-18588)tgagaafs	p.E6196fs	MACF1_ENST00000289893.4_Frame_Shift_Ins_p.E4639fs|MACF1_ENST00000361689.2_Frame_Shift_Ins_p.E4137fs|MACF1_ENST00000539005.1_Frame_Shift_Ins_p.E4007fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.E6233fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.E6095fs|MACF1_ENST00000317713.7_Frame_Shift_Ins_p.E4137fs|MACF1_ENST00000545844.1_Frame_Shift_Ins_p.E4137fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6205					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAATGCTTGGGAGAACTTAAA	0.436													9	140	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	RNA	DEL	T	T	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284													4	3	---	---	---	---					
CNTN3	5067	broad.mit.edu	37	3	74350629	74350630	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr3:74350629_74350630delTC	ENST00000263665.6	-	15	2041_2042	c.2014_2015delGA	c.(2014-2016)afs	p.E672fs		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	672	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)		AACCCGAAATTCATATTCCACC	0.426													13	100	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37173877	37173877	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr5:37173877delC	ENST00000274258.7	-	32	6378	c.2791delG	c.(2791-2793)aafs	p.E931fs	C5orf42_ENST00000425232.2_Frame_Shift_Del_p.E2051fs|C5orf42_ENST00000508244.1_Frame_Shift_Del_p.E2051fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2051										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTAAACATTTCATCTTGCAGC	0.378													20	104	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs35342965	by1000genomes	TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													32	138	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													3	4	---	---	---	---					
RP11-46C24.5	0	broad.mit.edu	37	16	89324045	89324045	+	RNA	DEL	G	G	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr16:89324045delG	ENST00000566427.1	-	0	96																											tcttcctgccgagcagccgct	0.682													2	4	---	---	---	---					
ZNF207	7756	broad.mit.edu	37	17	30693707	30693710	+	Frame_Shift_Del	DEL	AAGT	AAGT	-			TCGA-EB-A57M-01A-51D-A30X-08	TCGA-EB-A57M-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a344a0d5-f9bd-4b46-9a41-d4fd881eaca2	32d9ed88-5030-4295-bd1e-5c1d052a18f8	g.chr17:30693707_30693710delAAGT	ENST00000394670.4	+	9	1021_1024	c.852_855delAAGT	c.(850-855)tcfs	p.SS284fs	ZNF207_ENST00000577908.1_Frame_Shift_Del_p.SS284fs|ZNF207_ENST00000341711.6_Frame_Shift_Del_p.SS185fs|ZNF207_ENST00000394673.2_Intron|ZNF207_ENST00000321233.6_Frame_Shift_Del_p.SS268fs|ZNF207_ENST00000342555.6_Frame_Shift_Del_p.SS287fs	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACAAGCTCAAGTACAGCTTCAT	0.387													7	54	---	---	---	---