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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
IFLTD1	160492	broad.mit.edu	37	12	25702464	25702464	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr12:25702464C>A	uc010sji.1	-	2	351	c.106G>T	c.(106-108)Gga>Tga	p.G36*	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Nonsense_Mutation_p.G15*|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Nonsense_Mutation_p.G36*	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	15						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GAATATACTCCAAGTTTGTCT	0.323													7.53E-04	1.85E-01	6.02E-04	0	1	107	4
DSG4	147409	broad.mit.edu	37	18	28986167	28986167	+	Silent	SNP	T	C	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr18:28986167T>C	uc002kwr.2	+	11	1899	c.1764T>C	c.(1762-1764)gaT>gaC	p.D588D	DSG4_uc002kwq.2_Silent_p.D588D	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	588					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.C587S(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGCCTGTGATTGCGATGACA	0.483													0	3.87E-01	0	0	0	99	10
ARHGAP17	55114	broad.mit.edu	37	16	24953431	24953431	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:24953431G>A	uc002dnb.3	-	15	1460	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	ARHGAP17_uc002dmz.3_5'Flank|ARHGAP17_uc002dna.3_Missense_Mutation_p.P183L|ARHGAP17_uc002dnc.3_Missense_Mutation_p.P456L|ARHGAP17_uc010vcf.2_Missense_Mutation_p.P277L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	456					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGTGGTGAGAGGTACAAATGC	0.507													0	1.85E-01	0	0	0	119	3
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	G	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:131976198A>G	uc002tsn.2	+	0	275	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587													0	1.85E-01	0	0	0	196	3
KIAA1683	80726	broad.mit.edu	37	19	18378325	18378325	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18378325G>A	uc010ebn.2	-	2	241	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	KIAA1683_uc002nin.2_Silent_p.L9L|KIAA1683_uc010xqe.1_5'UTR	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	9						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCGGACAGGTCAGCTCTG	0.667													0	1.15E-01	0	0	0	101	3
ZNF169	169841	broad.mit.edu	37	9	97063337	97063337	+	Silent	SNP	G	T	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:97063337G>T	uc022bki.1	+	3	1555	c.1500G>T	c.(1498-1500)tcG>tcT	p.S500S	ZNF169_uc004aum.1_Silent_p.S499S	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	499						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S499L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTTTAAGTCGCTCCTCACCC	0.547													2.18E-32	8.70E-01	1.67E-32	0	1	46	47
COG5	10466	broad.mit.edu	37	7	106851577	106851577	+	Silent	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:106851577C>A	uc003vec.2	-	19	2880	c.2355G>T	c.(2353-2355)acG>acT	p.T785T	COG5_uc003ved.2_Silent_p.T764T|COG5_uc003vee.2_Silent_p.T785T	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	764					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CGGGTGCTCTCGTGAACAAAA	0.468													1.28E-01	1.15E-01	1.15E-01	0	1	109	3
MLH3	27030	broad.mit.edu	37	14	75514649	75514649	+	Silent	SNP	T	C	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:75514649T>C	uc001xrd.1	-	1	1926	c.1710A>G	c.(1708-1710)acA>acG	p.T570T	MLH3_uc001xre.1_Silent_p.T570T|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	570					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTCCCCATAATGTTGTTGCAA	0.363								Mismatch excision repair (MMR)					0	1.15E-01	0	0	0	96	3
EFS	10278	broad.mit.edu	37	14	23826572	23826572	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23826572C>A	uc001wjo.3	-	5	2157	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S	EFS_uc001wjp.3_Missense_Mutation_p.A424S|EFS_uc010tnm.2_Missense_Mutation_p.A348S	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	517					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.R516Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGCACAGTGGCCCGCAATGCC	0.647													1.29E-02	3.87E-01	1.07E-02	0	1	81	11
CRAT	1384	broad.mit.edu	37	9	131866547	131866547	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr9:131866547G>A	uc004bxh.3	-	2	612	c.330C>T	c.(328-330)taC>taT	p.Y110Y	CRAT_uc004bxk.4_Silent_p.Y89Y	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGCTGGCGGTACTGGAGGT	0.637													0	1.15E-01	0	0	0	35	3
ERBB4	2066	broad.mit.edu	37	2	212248348	212248348	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:212248348C>A	uc002veg.1	-	27	4017	c.3919G>T	c.(3919-3921)Gtg>Ttg	p.V1307L	ERBB4_uc002veh.1_Missense_Mutation_p.V1291L|ERBB4_uc010zji.1_Missense_Mutation_p.V1297L|ERBB4_uc010zjj.1_Missense_Mutation_p.V1281L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1307					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCTTACACCACAGTATTCCGG	0.537										TSP Lung(8;0.080)			1.61E-01	1.51E-01	1.51E-01	0	1	100	3
EGFLAM	133584	broad.mit.edu	37	5	38448474	38448474	+	Silent	SNP	T	C	C			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr5:38448474T>C	uc003jlc.2	+	18	2906	c.2560T>C	c.(2560-2562)Ttg>Ctg	p.L854L	EGFLAM_uc003jlb.2_Silent_p.L846L|EGFLAM_uc003jle.2_Silent_p.L612L|EGFLAM_uc003jlf.2_Silent_p.L212L|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	854	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCCAGATATCTTGAAGAGGTA	0.438													0	1.85E-01	0	0	0	166	4
SYCP2L	221711	broad.mit.edu	37	6	10894117	10894117	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr6:10894117G>A	uc003mzo.3	+	2	392	c.96G>A	c.(94-96)acG>acA	p.T32T	SYCP2L_uc011dim.1_Non-coding_Transcript	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	32						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACTTATTACGGATGCATTCC	0.299													0	2.17E-01	0	0	0	53	4
NFAT5	10725	broad.mit.edu	37	16	69727410	69727410	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr16:69727410C>A	uc002exm.2	+	11	3964	c.3628C>A	c.(3628-3630)Cag>Aag	p.Q1210K	NFAT5_uc002exj.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exk.2_Missense_Mutation_p.Q1134K|NFAT5_uc002exl.2_Missense_Mutation_p.Q1228K|NFAT5_uc002exn.2_Missense_Mutation_p.Q1227K|NFAT5_uc002exo.2_Non-coding_Transcript|NFAT5_uc002exi.3_Missense_Mutation_p.Q1134K	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	1210					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGTTTATTTCAGCCTCAGGT	0.512													1.70E-02	1.85E-01	1.48E-02	0	1	110	4
SOWAHB	345079	broad.mit.edu	37	4	77816864	77816864	+	Missense_Mutation	SNP	A	T	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr4:77816864A>T	uc003hki.3	-	0	2139	c.2139T>A	c.(2137-2139)agT>agA	p.S713R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	713																	CAGAGGTATTACTGGTTAGAT	0.522													0	3.35E-01	0	0	0	506	7
DSCAM	1826	broad.mit.edu	37	21	41414505	41414505	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr21:41414505G>A	uc002yyq.1	-	31	5931	c.5479C>T	c.(5479-5481)Ctg>Ttg	p.L1827L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1827					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGTGCCTCAGTTGCTCTTCC	0.537													0	2.17E-01	0	0	0	136	4
MYH7	4625	broad.mit.edu	37	14	23885503	23885503	+	Missense_Mutation	SNP	C	T	T			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr14:23885503C>T	uc001wjx.3	-	33	4769	c.4663G>A	c.(4663-4665)Gag>Aag	p.E1555K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1555			E -> K (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATCTTGCCCTCCTCGTGCTCC	0.627													0	3.35E-01	0	0	0	217	8
FAM129A	116496	broad.mit.edu	37	1	184792832	184792832	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr1:184792832C>G	uc001gra.3	-	6	956	c.762G>C	c.(760-762)caG>caC	p.Q254H	FAM129A_uc001grb.1_Intron|FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Missense_Mutation_p.Q52H	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	254					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.Q254P(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCAGGTCTGTCTGAAGAGTGG	0.512													0	1.15E-01	0	0	0	109	3
CSMD1	64478	broad.mit.edu	37	8	3165913	3165913	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:3165913G>A	uc022aqr.1	-	23	4134	c.3744C>T	c.(3742-3744)taC>taT	p.Y1248Y	CSMD1_uc011kwj.2_Silent_p.Y641Y|CSMD1_uc003wqe.3_Silent_p.Y405Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1249	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATGCATGGCGTACCCCGGGT	0.517													0	1.51E-01	0	0	0	44	3
STAT5B	6777	broad.mit.edu	37	17	40354774	40354774	+	Splice_Site	SNP	C	G	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr17:40354774C>G	uc002hzh.3	-	17	2298	c.2129_splice	c.e17+1	p.E710_splice		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	710					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGACACTTACTCAGGGACCA	0.532													0	3.35E-01	0	0	0	232	9
FKBP7	51661	broad.mit.edu	37	2	179341923	179341923	+	Missense_Mutation	SNP	C	G	G			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr2:179341923C>G	uc002umk.3	-	1	368	c.239G>C	c.(238-240)gGc>gCc	p.G80A	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.G80A|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.G76A	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	80	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTTGGGGTGGCCTTCATTTTG	0.383													0	3.87E-01	0	0	0	85	7
TRIB3	57761	broad.mit.edu	37	20	377081	377081	+	Missense_Mutation	SNP	G	A	A	rs140801463		TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr20:377081G>A	uc002wdn.3	+	4	1222	c.905G>A	c.(904-906)cGc>cAc	p.R302H	TRIB3_uc002wdm.3_Missense_Mutation_p.R275H	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	275	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		AAGATCCGCCGCGGGGCCTAC	0.692													0	2.79E-01	0	0	0	97	5
MYO18B	84700	broad.mit.edu	37	22	26423340	26423340	+	Missense_Mutation	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr22:26423340G>A	uc003abz.1	+	42	7650	c.7400G>A	c.(7399-7401)gGt>gAt	p.G2467D	MYO18B_uc003aca.1_Missense_Mutation_p.G2348D|MYO18B_uc010guy.1_Missense_Mutation_p.G2349D|MYO18B_uc010guz.1_Missense_Mutation_p.G2347D|MYO18B_uc011aka.1_Missense_Mutation_p.G1621D|MYO18B_uc011akb.1_Missense_Mutation_p.G1980D|MYO18B_uc010gva.1_Missense_Mutation_p.G450D|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2467						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAAGACGGTTCACAGCGT	0.542													0	1.85E-01	0	0	0	94	4
FKBP8	23770	broad.mit.edu	37	19	18650451	18650451	+	Silent	SNP	G	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr19:18650451G>A	uc002njk.1	-	2	485	c.372C>T	c.(370-372)acC>acT	p.T124T	FKBP8_uc010xqi.1_Silent_p.T153T|FKBP8_uc002njj.1_Silent_p.T124T|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	124	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GCAGATGTACGGTGACCACCT	0.652													0	1.85E-01	0	0	0	202	4
TMEM67	91147	broad.mit.edu	37	8	94809588	94809588	+	Missense_Mutation	SNP	C	A	A			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr8:94809588C>A	uc011lgk.2	+	19	2061	c.1990C>A	c.(1990-1992)Cct>Act	p.P664T	TMEM67_uc010maw.2_Missense_Mutation_p.P370T|TMEM67_uc003yga.4_Missense_Mutation_p.P583T|TMEM67_uc011lgl.2_Missense_Mutation_p.P63T	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	664					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGCCACTGTTCCTGTAAGCAT	0.373													3.28E-35	8.70E-01	2.40E-35	0	1	98	46
CAMK2B	816	broad.mit.edu	37	7	44269096	44269096	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr7:44269096delG	uc003tkq.2	-	17	1440	c.1230delC	c.(1228-1230)cccfs	p.P410fs	CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_5'UTR	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	410					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CGGGGACCCTGGGGGCTGAGG	0.697																		4	2
C10orf71	118461	broad.mit.edu	37	10	50531657	50531657	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EL-A3H2-01A-11D-A20C-08	TCGA-EL-A3H2-11A-11D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7c0270b-eab4-4c6b-a07f-fbf49aa8da00	6ca274f1-73d3-49b2-8ee7-ac03ed50ec79	g.chr10:50531657delC	uc021pqb.1	+	0	1067	c.1067delC	c.(1066-1068)gccfs	p.A356fs	C10orf71_uc021pqa.1_Frame_Shift_Del_p.A355fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.A356fs	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	356										endometrium(1)	1						GATCCAGGAGCCCAGGTATTT	0.567																		55	43
