Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EVI2B	2124	broad.mit.edu	37	17	29631309	29631309	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	uc010csq.2	-	2	1547	c.1364T>A	c.(1363-1365)cTg>cAg	p.L455Q	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.L440Q|EVI2B_uc021tuk.1_Missense_Mutation_p.L440Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	440						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363000														64			3		0	0	0.009096	0	0
RNF43	54894	broad.mit.edu	37	17	56435582	56435582	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	uc002iwf.3	-	7	3511	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	RNF43_uc010wnv.2_Nonsense_Mutation_p.R478*|RNF43_uc002iwh.4_Nonsense_Mutation_p.R519*|RNF43_uc002iwg.4_Nonsense_Mutation_p.R519*|RNF43_uc010dcw.3_Nonsense_Mutation_p.R392*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	519						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592000														72			62		0	0	0.048971	0	0
AOX1	316	broad.mit.edu	37	2	201524011	201524011	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	uc002uvx.3	+	27	3396	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_uc010zhf.2_Missense_Mutation_p.V655I|AOX1_uc010fsu.3_Missense_Mutation_p.V465I	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1099					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.V1099I(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498000														132			4		0	0	0.009096	0	0
CNOT6L	246175	broad.mit.edu	37	4	78665985	78665985	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	uc011ccd.2	-	6	735	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_uc003hks.3_Missense_Mutation_p.A202T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A45T|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	202					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCCGGGTAGCGTATTTATCA	0.393000														13			13		0	0	0.024245	0	0
MOB3A	126308	broad.mit.edu	37	19	2076843	2076843	+	Silent	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:2076843G>A	uc002luu.3	-	1	750	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MOB3A_uc002luv.3_Silent_p.F197F	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	197						intracellular	metal ion binding										CGATGAGGCCGAACTCCTTGA	0.622000														28			22		0	0	0.041601	0	0
KCNB2	9312	broad.mit.edu	37	8	73848875	73848875	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	uc003xzb.3	+	2	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCAGAAACGCCAAGAGAA	0.438000														56			4		0	0	0.009096	0	0
MARCH10	162333	broad.mit.edu	37	17	60879010	60879010	+	Silent	SNP	A	G	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	uc010dds.3	-	1	372	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_uc010ddr.3_Silent_p.Y29Y|MARCH10_uc002jag.4_Silent_p.Y29Y|MARCH10_uc002jah.2_Silent_p.Y29Y	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	29							ligase activity|zinc ion binding	p.Y29C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428000														137			19		0	0	0.069288	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64601218	64601218	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	uc001obs.4	-	21	2557	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	853					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687000														40			3		0	0	0.009096	0	0
SLC30A2	7780	broad.mit.edu	37	1	26371545	26371545	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	uc001blg.1	-	1	431	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_uc001blh.1_Missense_Mutation_p.R72C	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	72					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.R72C(2)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532000														115			91		0	0	0.048971	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822448	103822448	+	Silent	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:103822448G>A	uc003hww.3	-	11	1516	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Silent_p.S231S	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	458						integral to membrane	solute:hydrogen antiporter activity										AGTGGGGTGCGGAGACTCTTG	0.428000														216			15		0	0	0.021523	0	0
PI3	5266	broad.mit.edu	37	20	43804672	43804672	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	uc002xng.3	+	1	274	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.C83C(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512000														55			29		0	0	0.069456	0	0
PKHD1	5314	broad.mit.edu	37	6	51747892	51747892	+	Splice_Site	SNP	T	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	uc003pah.1	-	46	7626	c.7350_splice	c.e46+1	p.K2450_splice	PKHD1_uc010jzn.1_Splice_Site_p.K433_splice|PKHD1_uc003pai.3_Splice_Site_p.K2450_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2450					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCACTTACCTTGTGGGCAAA	0.388000														19			12		0	0	0.024245	0	0
ABCC11	85320	broad.mit.edu	37	16	48211013	48211013	+	Silent	SNP	C	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	uc002eff.1	-	23	3710	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_uc002efg.1_Silent_p.S1120S|ABCC11_uc002efh.1_Silent_p.S1120S|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1120						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGAGCTTCCGAGACACACA	0.483000														27			14		0	0	0.033300	0	0
MATK	4145	broad.mit.edu	37	19	3779721	3779721	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	uc002lyt.3	-	8	1217	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_uc002lyv.3_Missense_Mutation_p.F274V|MATK_uc002lyu.3_Missense_Mutation_p.F232V|MATK_uc010dtq.3_Missense_Mutation_p.F273V|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	273	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCCAGGAAGGCCTGGGCT	0.687000														63			43		0	0	0.045515	0	0
CD93	22918	broad.mit.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	A	A	rs138932459		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:23066171G>A	uc002wsv.3	-	0	807	c.659C>T	c.(658-660)gCg>gTg	p.A220V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	220			A -> V (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.A220V(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617000														87			4		0	0	0.014758	0	0
MIA3	375056	broad.mit.edu	37	1	222828024	222828024	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	uc001hnl.3	+	17	4505	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_uc001hnm.3_Missense_Mutation_p.R377H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1499					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGATGACCGCAACTCACTA	0.448000														72			3		0	0	0.004672	0	0
KEL	3792	broad.mit.edu	37	7	142658506	142658506	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	uc003wcb.3	-	2	374	c.164T>G	c.(163-165)tTg>tGg	p.L55W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	55					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.L55F(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567000														12			14		0	0	0.028581	0	0
ATP11C	286410	broad.mit.edu	37	X	138857058	138857058	+	Silent	SNP	T	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	uc004faz.3	-	18	2115	c.2016A>G	c.(2014-2016)aaA>aaG	p.K672K	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.K672K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	672					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K672*(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCACCCAGACTTTCAGGCCTG	0.483000														46			5		0	0	0.029380	0	0
ATRX	546	broad.mit.edu	37	X	76849221	76849221	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	uc004ecp.4	-	25	6287	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_uc004ecq.4_Missense_Mutation_p.K1981E|ATRX_uc004eco.4_Missense_Mutation_p.K1804E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2019					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTACCATTTTCCCAGAATGC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							9			44		0	0	0.048971	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									61			34		0	0	0.033182	0	0
MPND	84954	broad.mit.edu	37	19	4357346	4357346	+	Missense_Mutation	SNP	G	A	A	rs61730129		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	uc002mae.3	+	8	1160	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Missense_Mutation_p.A315T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672000														48			3		0	0	0.009096	0	0
ZNF749	388567	broad.mit.edu	37	19	57956845	57956845	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	uc002qoq.2	+	2	2583	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393000														97			3		0	0	0.004672	0	0
XCL1	6375	broad.mit.edu	37	1	168550354	168550354	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	uc001gfo.2	+	2	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	81					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483000														40			21		0	0	0.030593	0	0
SLIT1	6585	broad.mit.edu	37	10	98819232	98819232	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	uc001kmw.2	-	10	1322	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_uc009xvh.1_Missense_Mutation_p.R367H	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	357					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.L356L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622000														53			19		0	0	0.018920	0	0
ZNF667	63934	broad.mit.edu	37	19	56953384	56953384	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	uc002qne.3	-	6	1771	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_uc010etl.3_Missense_Mutation_p.E109G|ZNF667_uc002qnd.3_Missense_Mutation_p.E327G|ZNF667_uc010etm.3_Missense_Mutation_p.E270G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373000														119			8		0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	uc002gim.2	-	6	901	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.3_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(113)|p.N235S(14)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.Y236del(8)|p.0?(8)|p.Y236D(7)|p.N235D(7)|p.Y236S(6)|p.?(5)|p.Y143C(5)|p.N235I(4)|p.Y236fs*4(3)|p.N235T(3)|p.N235fs*5(2)|p.Y236_M243delYMCNSSCM(2)|p.N235Y(2)|p.N235fs*12(2)|p.Y236Y(2)|p.Y236_M237delYM(2)|p.I232_Y236delIHYNY(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.N235del(2)|p.N235fs*6(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.Y236_M237insXX(1)|p.N235>XX(1)|p.N235M(1)|p.H233fs*6(1)|p.N235H(1)|p.Y234_N235insX(1)|p.Y236fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTACACATGTAGTTGTAGTG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				17			66		0	0	0.048971	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510154	120510154	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	uc001eik.3	-	7	1652	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H	NOTCH2_uc001eil.3_Missense_Mutation_p.R452H|NOTCH2_uc021osy.1_Missense_Mutation_p.R413H|NOTCH2_uc001eim.4_Missense_Mutation_p.R369H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	452	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.R452C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					111			10		0	0	0.069234	0	0
ADRA1B	147	broad.mit.edu	37	5	159344767	159344767	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	uc003lxt.1	+	0	1028	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	285					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AACTTTTTAAGTTCTCCAGGG	0.498000														48			43		2.61675e-31	2.84764e-31	0.045515	1	0
EPPK1	83481	broad.mit.edu	37	8	144946590	144946590	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	uc003zaa.1	-	0	845	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	278						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682000														20			3		0	0	0.009096	0	0
OR9I1	219954	broad.mit.edu	37	11	57877001	57877002	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:57877001_57877002insC	uc021qjl.1	-	0	132_133	c.132_133insG	c.(130-135)gggatgfs	p.G44fs	OR9Q1_uc001nmj.3_Intron			Q8NGQ6	OR9I1_HUMAN	SubName: Full=Seven transmembrane helix receptor;	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGAATGATCATCCCCCCATTCC	0.485													---	4	---	---	2	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	135	---	---	9	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	4	---	---	2	---					
SLFN11	91607	broad.mit.edu	37	17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	-	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	uc002hjg.4	-	1	801_821	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_uc010ctr.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc010ctp.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc010ctq.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc002hjh.4_In_Frame_Del_p.PNSDPAD185del	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	185						nucleus	ATP binding	p.S187S(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412													---	134	---	---	20	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:16640581_16640583delTGC	uc002nei.1	-	7	1079_1081	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	335	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													---	50	---	---	7	---					
TBC1D17	79735	broad.mit.edu	37	19	50387777	50387777	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	uc002pqo.3	+	11	1604	c.1305delG	c.(1303-1305)gtgfs	p.V435fs	TBC1D17_uc010ybg.2_Frame_Shift_Del_p.V402fs|TBC1D17_uc002pqp.3_Frame_Shift_Del_p.V86fs|TBC1D17_uc002pqr.3_Frame_Shift_Del_p.V86fs	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	435	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597													---	113	---	---	40	---					
MAPK8IP2	23542	broad.mit.edu	37	22	51044326	51044326	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	uc003bmx.3	+	8	2202	c.2085delC	c.(2083-2085)cacfs	p.H695fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.H668fs|MAPK8IP2_uc011asc.2_Frame_Shift_Del_p.H50fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	696	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682													---	4	---	---	2	---					
