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
ACAP3	116983	broad.mit.edu	37	1	1229020	1229020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:1229020delA	uc001aeb.2	-	23	2503	c.2429delT	c.(2428-2430)ctgfs	p.L810fs	ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	810					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGCCCGCCAGGGCGCCCGG	0.721												
KPRP	448834	broad.mit.edu	37	1	152732806	152732806	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:152732806C>T	uc001fal.1	+	1	800	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	KPRP_uc021ozf.1_Missense_Mutation_p.R248C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	248						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACAGCACCGCTCTCGGAG	0.612												
OR10Z1	128368	broad.mit.edu	37	1	158577000	158577000	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158577000G>A	uc010pio.2	+	0	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTTCCTTCGTGTACCTGAG	0.493												
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158650498C>G	uc001fst.1	-	4	752	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	185					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448												
ZNF496	84838	broad.mit.edu	37	1	247464286	247464286	+	Silent	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:247464286C>T	uc009xgv.3	-	7	1444	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	ZNF496_uc001ico.3_Silent_p.K433K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	433					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCGTGCGGCTTCTCCTGCT	0.617												
OR2T34	127068	broad.mit.edu	37	1	248737752	248737752	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:248737752C>A	uc001iep.1	-	0	307	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G103G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTGGATCCCACAGCCTGAC	0.562												
OR5P2	120065	broad.mit.edu	37	11	7818165	7818165	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:7818165C>T	uc001mfp.1	-	0	325	c.325G>A	c.(325-327)Gtc>Atc	p.V109I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V109I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGAAGGACGCATTCGACT	0.483												
TMEM41B	440026	broad.mit.edu	37	11	9305021	9305021	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:9305021A>G	uc001mhm.3	-	6	1153	c.826T>C	c.(826-828)Tct>Cct	p.S276P	TMEM41B_uc001mhn.2_Missense_Mutation_p.S276P	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	276						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCAGAATAGAAAGAACAGCC	0.358												
CASP1	834	broad.mit.edu	37	11	104900443	104900443	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:104900443G>A	uc001pim.4	-	5	811	c.811C>T	c.(811-813)Cca>Tca	p.P271S	CASP1_uc001pig.3_Missense_Mutation_p.P178S|CASP1_uc021qpq.1_Missense_Mutation_p.P250S|CASP1_uc021qpr.1_Missense_Mutation_p.P178S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P271S|CASP1_uc021qpt.1_Missense_Mutation_p.P178S|CASP1_uc010rve.2_Missense_Mutation_p.P271S|CASP1_uc010rvf.2_Missense_Mutation_p.P178S|CASP1_uc010rvg.2_Missense_Mutation_p.P250S|CASP1_uc010rvh.2_Missense_Mutation_p.P178S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P250S|CASP1_uc021qpu.1_Missense_Mutation_p.P178S|CASP1_uc021qpv.1_Missense_Mutation_p.P250S|CASP1_uc021qpw.1_Missense_Mutation_p.P178S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P271S|CASP1_uc009yxj.3_Missense_Mutation_p.P116S|CASP1_uc010rvk.2_Missense_Mutation_p.P232S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	271					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTCAAACTTGGGCAGTTCTTG	0.448												
MARS	4141	broad.mit.edu	37	12	57910320	57910320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57910320G>A	uc001sog.3	+	20	2813	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc001soh.1_3'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	887	WHEP-TRS.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGCTGTAGCTGAGGGGAAACC	0.433												
DDIT3	1649	broad.mit.edu	37	12	57911096	57911096	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57911096C>A	uc009zpt.3	-	2	431	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.D32Y|DDIT3_uc021qzj.1_Missense_Mutation_p.D32Y|DDIT3_uc021qzk.1_Missense_Mutation_p.D55Y|DDIT3_uc021qzl.1_Missense_Mutation_p.D55Y|DDIT3_uc009zps.3_Missense_Mutation_p.D55Y	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	32					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CCATTTTCATCTGAAGACAGG	0.493			T	FUS	liposarcoma							
PIP4K2C	79837	broad.mit.edu	37	12	57994645	57994645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994645G>T	uc001sou.3	+	7	996	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PIP4K2C_uc001sot.3_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.2_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.2_Missense_Mutation_p.D241Y	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	289	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552												
PIP4K2C	79837	broad.mit.edu	37	12	57994848	57994848	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994848C>G	uc001sou.3	+	7	1199	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PIP4K2C_uc001sot.3_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.2_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.2_Missense_Mutation_p.I308M	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	356	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562												
TSPAN31	6302	broad.mit.edu	37	12	58140433	58140433	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:58140433G>A	uc001spt.3	+	3	528	c.374G>A	c.(373-375)aGa>aAa	p.R125K	TSPAN31_uc009zqb.3_Intron|TSPAN31_uc010ssa.2_Missense_Mutation_p.R47K	NM_005981	NP_005972	Q12999	TSN31_HUMAN	Homo sapiens tetraspanin 31 (TSPAN31), mRNA.	125					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAACTGGAAAGAAGTTTTGAT	0.448												
TPTE2	93492	broad.mit.edu	37	13	20066995	20066995	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr13:20066995A>T	uc001umd.3	-	3	325	c.114T>A	c.(112-114)agT>agA	p.S38R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S38R|TPTE2_uc001ume.3_Missense_Mutation_p.S38R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	38						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTCACCTTTTACTGATAGGTG	0.388												
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:21884031delT	uc001war.2	-	4	1817	c.1752delA	c.(1750-1752)aaafs	p.K584fs	CHD8_uc001was.2_Frame_Shift_Del_p.K305fs	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	584					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398												
PCNX	22990	broad.mit.edu	37	14	71495452	71495452	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:71495452A>C	uc001xmo.2	+	15	3948	c.3502A>C	c.(3502-3504)Atc>Ctc	p.I1168L	PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1168						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTACAGTTTTATCTGTAGCAT	0.313												
TJP1	7082	broad.mit.edu	37	15	30003151	30003151	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:30003151T>C	uc001zcr.3	-	23	4731	c.4256A>G	c.(4255-4257)tAt>tGt	p.Y1419C	TJP1_uc010azl.3_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1339C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1419					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGGTTCATAGCGTTTCTC	0.512												
ARNT2	9915	broad.mit.edu	37	15	80883952	80883952	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:80883952G>A	uc002bfr.3	+	17	2128	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	ARNT2_uc010unm.2_Silent_p.S643S|ARNT2_uc002bfs.3_Silent_p.S643S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	654					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCCTCGGAAGTCTGGT	0.567												
RSL1D1	26156	broad.mit.edu	37	16	11931690	11931690	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:11931690G>T	uc002dbp.1	-	8	1500	c.1427C>A	c.(1426-1428)aCc>aAc	p.T476N	RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	476					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTTGGGGGTGTGGGAAGC	0.468												
SMG1	23049	broad.mit.edu	37	16	18875133	18875133	+	Silent	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:18875133A>T	uc002dfm.3	-	24	3897	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	SMG1_uc010bwb.3_Silent_p.S1038S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1178	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCAGGGGAAGAGTCAGTCG	0.388												
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs28934573		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr17:7577558_7577566delGGAACTGTT	uc002gim.2	-	6	909_917	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.3_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del|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.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.N239D(66)|p.C238Y(57)|p.N239S(50)|p.S241C(50)|p.C238F(36)|p.S240G(28)|p.N239fs*25(27)|p.C238S(19)|p.S241fs*6(18)|p.S241A(17)|p.S240R(17)|p.S241Y(16)|p.C242fs*5(15)|p.N239K(14)|p.C238R(14)|p.S241T(14)|p.N239Y(12)|p.S240I(12)|p.S241del(10)|p.N239fs*1(8)|p.N239T(8)|p.0?(8)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.S240C(6)|p.S241S(6)|p.S241P(6)|p.?(5)|p.N239_S240insX(4)|p.S148F(4)|p.N239fs*8(4)|p.S240S(4)|p.S240T(4)|p.S240fs*7(4)|p.C238*(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.N146S(3)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240fs*23(2)|p.C238del(2)|p.C238G(2)|p.C238fs*21(2)|p.C238W(2)|p.N239I(2)|p.N239N(2)|p.S241fs*7(2)|p.S240fs*26(2)|p.N239*(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_S240insN(2)|p.C238_N239insX(2)|p.N239_C242del(2)|p.S148T(1)|p.C238fs*2(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.V225fs*23(1)|p.S148C(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239fs*>48(1)|p.H233fs*6(1)|p.N146fs*>10(1)|p.N146fs*1(1)|p.M237_C238insX(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)		
ZNF317	57693	broad.mit.edu	37	19	9271619	9271619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:9271619T>A	uc002mku.3	+	6	1603	c.1298T>A	c.(1297-1299)cTt>cAt	p.L433H	ZNF317_uc002mkv.3_Missense_Mutation_p.L292H|ZNF317_uc002mkw.3_Missense_Mutation_p.L401H|ZNF317_uc002mkx.3_Missense_Mutation_p.L348H|ZNF317_uc002mky.3_Missense_Mutation_p.L316H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGTCCATCCTTAAGACTCAC	0.537												
NOTCH3	4854	broad.mit.edu	37	19	15298114	15298114	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:15298114C>T	uc002nan.3	-	10	1718	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	548	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGCAGTCGTCCACGTTG	0.657												
FCGBP	8857	broad.mit.edu	37	19	40419695	40419695	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:40419695C>T	uc002omp.4	-	5	3307	c.3299G>A	c.(3298-3300)gGc>gAc	p.G1100D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1100						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGACTGGCCTGGCAGCAG	0.647												
NLRP2	55655	broad.mit.edu	37	19	55494507	55494507	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:55494507C>T	uc021vbq.1	+	5	1552	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	NLRP2_uc010yfp.2_Missense_Mutation_p.R458C|NLRP2_uc002qij.3_Missense_Mutation_p.R481C|NLRP2_uc010esp.3_Missense_Mutation_p.R459C|NLRP2_uc010esn.3_Missense_Mutation_p.R457C|NLRP2_uc010eso.3_Missense_Mutation_p.R478C	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	481	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGACCTCCGTCTGTTCCT	0.632												
TEKT4	150483	broad.mit.edu	37	2	95537569	95537569	+	Missense_Mutation	SNP	G	G	A	rs66467545		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:95537569G>A	uc002stw.1	+	0	338	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	82					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGGCGCAGCGCACGCAGCAA	0.692												
IWS1	55677	broad.mit.edu	37	2	128238721	128238721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:128238721G>A	uc002ton.2	-	13	2662	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	787					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTATCCAGTCGACTGATACCC	0.388												
GGT1	2678	broad.mit.edu	37	22	25023517	25023517	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr22:25023517G>A	uc003aan.1	+	11	1626	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.2_Missense_Mutation_p.G380D|GGT1_uc003aav.2_Missense_Mutation_p.G380D|GGT1_uc003aaw.2_Missense_Mutation_p.G380D|GGT1_uc003aax.2_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	380					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATGACGGGGGCACTGCTCAC	0.632												
PCDH7	5099	broad.mit.edu	37	4	30725870	30725870	+	Silent	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr4:30725870A>G	uc003gsk.1	+	0	3834	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K	PCDH7_uc011bxx.2_Silent_p.K942K|PCDH7_uc021xnd.1_Silent_p.K942K|PCDH7_uc021xnc.1_Silent_p.K942K	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	942					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAACAAAAAATCTAAGCAGC	0.413												
PTCD2	79810	broad.mit.edu	37	5	71627105	71627105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:71627105A>G	uc003kcb.3	+	3	381	c.371A>G	c.(370-372)aAt>aGt	p.N124S	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	124										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGAACAAAAATTTCACTTTG	0.438												
SV2C	22987	broad.mit.edu	37	5	75428120	75428120	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:75428120A>G	uc003kei.1	+	1	679	c.545A>G	c.(544-546)gAc>gGc	p.D182G		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	182					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGAGACAGACCTCTGCATC	0.502												
UQCRQ	27089	broad.mit.edu	37	5	132202700	132202701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:132202700_132202701insG	uc003kya.1	+	1	201_202	c.127_128insG	c.(127-129)cggfs	p.R43fs	GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	NM_014402	NP_055217	O14949	QCR8_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa (UQCRQ), nuclear gene encoding mitochondrial protein, mRNA.	43					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCCGCATTCGGGAGTCTTTC	0.634												
PCDHAC2	56147	broad.mit.edu	37	5	140167621	140167621	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140167621G>A	uc003lhb.2	+	0	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.P582P	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	595					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657												
PCDHGC5	56113	broad.mit.edu	37	5	140720885	140720885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140720885G>A	uc003ljk.2	+	0	2532	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.E783K|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	793					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCCAGGAGAGCTGTGA	0.488												
ODZ2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:167627098C>G	uc010jjd.3	+	16	3365	c.3365C>G	c.(3364-3366)gCg>gGg	p.A1122G	ODZ2_uc003lzr.4_Missense_Mutation_p.A899G|ODZ2_uc003lzt.4_Missense_Mutation_p.A495G|ODZ2_uc010jje.3_Missense_Mutation_p.A393G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGACAGATGCGTATGGCCAA	0.478												
DAXX	1616	broad.mit.edu	37	6	33287338	33287338	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:33287338A>G	uc003oec.3	-	5	1963	c.1759T>C	c.(1759-1761)Tcc>Ccc	p.S587P	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.S587P|DAXX_uc021ywo.1_Missense_Mutation_p.S587P|DAXX_uc011dre.2_Missense_Mutation_p.S599P|DAXX_uc003oed.3_Missense_Mutation_p.S587P|DAXX_uc011drd.2_Missense_Mutation_p.S512P	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	587	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGGAAGAGGAAATGTCCGTC	0.527			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM							
UBE3D	90025	broad.mit.edu	37	6	83728822	83728822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:83728822delC	uc003pjp.2	-	7	988	c.880delG	c.(880-882)gaafs	p.E294fs	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Frame_Shift_Del_p.E84fs	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	294						cytoplasm	ligase activity										CTCAAAGATTCAATCACCAAA	0.353												
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323												
ASZ1	136991	broad.mit.edu	37	7	117024817	117024817	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:117024817A>G	uc003vjb.2	-	5	713	c.650T>C	c.(649-651)aTg>aCg	p.M217T	ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	217					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCACTTGGCATCTTTCCATC	0.353												
KEL	3792	broad.mit.edu	37	7	142658531	142658531	+	Missense_Mutation	SNP	G	G	A	rs150577967		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:142658531G>A	uc003wcb.3	-	2	349	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	47					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGCACCCGCCTGGCCACT	0.547												
MLL3	58508	broad.mit.edu	37	7	151927093	151927093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:151927093C>A	uc003wla.3	-	17	3110	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	MLL3_uc003wkz.3_Missense_Mutation_p.G25V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	964					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCAAAACTGCCACAAACTAC	0.348			N		medulloblastoma							
TLE4	7091	broad.mit.edu	37	9	82324566	82324566	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:82324566G>A	uc004ald.3	+	14	2216	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	TLE4_uc004alc.3_Missense_Mutation_p.R431H|TLE4_uc010mpr.3_Missense_Mutation_p.R310H|TLE4_uc004ale.3_Missense_Mutation_p.R68H|TLE4_uc011lsq.2_Missense_Mutation_p.R399H|TLE4_uc010mps.3_Missense_Mutation_p.R355H|TLE4_uc004alf.3_Missense_Mutation_p.R370H	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCACATGCGTGTGCCAGCA	0.438												
FAM75D1	389763	broad.mit.edu	37	9	84605747	84605747	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:84605747G>A	uc004amn.3	+	3	409	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	121						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AACCACTTTCGTCGACTGTTA	0.537												
ZNF618	114991	broad.mit.edu	37	9	116779034	116779034	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:116779034C>A	uc004bid.3	+	9	913	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.3_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.2_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.2_Missense_Mutation_p.Q240K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACTCCCTACCAGGAGCATGT	0.572												
MAP3K15	389840	broad.mit.edu	37	X	19431486	19431486	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chrX:19431486G>T	uc022btq.1	-	10	1687	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_Missense_Mutation_p.T5N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	563							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATTTCTGTGGGTGAGACATGC	0.398												
