Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BIRC6	57448	broad.mit.edu	37	2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:32819095C>T	uc010ezu.3	+	66	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388000													4	47					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088769	43088769	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	uc001jaf.1	-	4	1744	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.H431H|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428000													23	110					0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	uc001ujy.4	-	8	1441	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	468					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617000													8	124					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749448	62749448	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:62749448G>A	uc001nwk.3	-	3	996	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLC22A6_uc001nwl.3_Silent_p.C221C|SLC22A6_uc001nwj.3_Silent_p.C221C|SLC22A6_uc001nwm.3_Silent_p.C221C	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	221					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGTGCCCACGCAGGCCCGTG	0.607000													5	45					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062131	216062131	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	uc001hku.1	-	40	8247	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2620					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCCCCTGGGAGTGTCCATA	0.502000										HNSCC(13;0.011)			21	47					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274354	233274354	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	uc002vss.4	+	10	1424	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	457					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AGGACGTGGCGGTGTTCGCGC	0.667000													14	15					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182353	182353	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr5:182353C>T	uc003jak.2	+	17	3781	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1244					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGATGAGCCAGAGCCAGAA	0.652000													7	39					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	uc003gsf.4	+	5	655	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TBC1D19_uc010iew.3_Nonsense_Mutation_p.Q129*|TBC1D19_uc011bxu.2_Nonsense_Mutation_p.Q64*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	129						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308000													22	30					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	uc002ibm.4	+	2	489	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_uc010wha.2_Missense_Mutation_p.K3I	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	86	Cyclin N-terminal.							p.V85I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438000													27	36					0	0	1	0	0
MED18	54797	broad.mit.edu	37	1	28661302	28661302	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:28661302C>T	uc021okc.1	+	2	714	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	MED18_uc001bpt.4_Missense_Mutation_p.R150C|MED18_uc009vtg.3_Missense_Mutation_p.R150C	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	150					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATTTTCCGCATCCTGGT	0.502000													4	84					0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40956252	40956252	+	Silent	SNP	A	A	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	uc002ibm.4	+	2	487	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_uc010wha.2_Silent_p.V2V	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	85	Cyclin N-terminal.							p.V85I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438000													29	35					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316087	19316087	+	Silent	SNP	T	T	A	rs68012060		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:19316087T>A	uc010vyw.2	+	2	603	c.372T>A	c.(370-372)ccT>ccA	p.P124P	RNF112_uc010vyu.2_Silent_p.P124P|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Silent_p.P76P	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	124							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCCCCTGCACTGCAGG	0.627000													4	42					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	uc001ocq.1	+	7	1045	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	294					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGCTGACAGCGATCCCAACCT	0.662000													20	161					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39664275	39664275	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:39664275G>C	uc002okj.1	+	5	1184	c.723G>C	c.(721-723)caG>caC	p.Q241H	PAK4_uc002okl.1_Missense_Mutation_p.Q241H|PAK4_uc002okn.1_Missense_Mutation_p.Q241H|PAK4_uc002okm.1_Missense_Mutation_p.Q88H|PAK4_uc002oko.1_Missense_Mutation_p.Q88H|PAK4_uc002okp.1_Missense_Mutation_p.Q151H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	241	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCATCCCCCAGTCCTCCTCCT	0.701000													3	29					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117695460	117695460	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	uc004eqp.2	+	6	736	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_uc004eqq.2_5'UTR	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	225	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTACTTGGACGCCTGCATTGA	0.378000													16	32					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													4	36					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr15:20644850G>A	uc001ytg.3	-	20	3117	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.A803V|HERC2P3_uc010tyy.2_Missense_Mutation_p.A803V					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.A803V(8)|p.R802K(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	24					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9085133	9085133	+	Splice_Site	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:9085133G>A	uc009vmo.1	-	2	52	c.52_splice	c.e2-1	p.R18_splice		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	18						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGAGCCGCTGTAGGAGA	0.652000													6	44					0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148889643	148889643	+	RNA	SNP	T	T	C	rs4950649	by1000genomes	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:148889643T>C	uc009wkv.1	+	6		c.730T>C								Homo sapiens cDNA, FLJ17483.																		GTAGCAGACATTGGTTTTGAT	0.358000													4	62					0	0	1	0	0
MGARP	84709	broad.mit.edu	37	4	140187905	140187905	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:140187905C>T	uc003ihr.1	-	3	751	c.571G>A	c.(571-573)Gat>Aat	p.D191N		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	Homo sapiens chromosome 4 open reading frame 49 (C4orf49), mRNA.	191						integral to membrane											TTATCATTATCGATGGTGACA	0.468000													43	176					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	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								29	41					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	uc001dlt.3	+	8	1672	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_uc001dls.1_Missense_Mutation_p.A410V	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	471	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383000													5	41					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108306212	108306212	+	Silent	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	uc003ymn.3	-	5	1458	c.990T>C	c.(988-990)cgT>cgC	p.R330R	ANGPT1_uc011lhv.2_Silent_p.R130R|ANGPT1_uc003ymo.3_Silent_p.R329R|ANGPT1_uc003ymp.4_Silent_p.R129R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	330	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCATCTTCACGATGTTGTA	0.343000													17	70					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193003	24193003	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	uc003xdy.3	+	13	1499	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	ADAM28_uc003xdx.3_Silent_p.C472C|ADAM28_uc011kzz.2_Silent_p.C239C|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.C159C	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	472	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433000													8	31					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	uc003cuf.1	-	2	979	c.979G>A	c.(979-981)Gca>Aca	p.A327T	CELSR3_uc003cul.3_Missense_Mutation_p.A257T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	257	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAACCTGATGCAGGAGCTGTC	0.701000													10	105					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	uc003ioq.3	+	1	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_uc003ior.3_Missense_Mutation_p.L289F|NPY2R_uc021xtm.1_Missense_Mutation_p.L289F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	289					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCCTTCCAGCTTGCCGTTGA	0.517000													10	38					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	uc002jxw.1	+	9	1573	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.S460N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.S223N|CARD14_uc010dhu.1_Missense_Mutation_p.S258N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	460					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677000													14	58					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	uc003zaa.1	-	0	6659	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2216						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)			TAGCGCTTGACGCGGTCGTCC	0.627000													41	175					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79653396	79653396	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:79653396C>T	uc002kbg.3	+	2	312	c.177C>T	c.(175-177)caC>caT	p.H59H	ARL16_uc002kbf.3_5'Flank|ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_Silent_p.H59H	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	59	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACCCACACGTCGCCTTGT	0.483000													3	47					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	uc002fwo.4	-	4	500	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557000													8	98					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	181					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	uc021wdj.1	+	10	1201	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	CTNNBL1_uc002xhh.3_Nonsense_Mutation_p.C183*|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Nonsense_Mutation_p.C118*	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	370					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478000													5	82					1.23904e-05	1.23904e-05	1	1	0
RPS24	6229	broad.mit.edu	37	10	79793660	79793660	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:79793660A>C	uc001jzs.3	+	0	143	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RPS24_uc010qlo.2_Missense_Mutation_p.M1L|RPS24_uc001jzp.3_Missense_Mutation_p.M1L|RPS24_uc001jzq.3_Missense_Mutation_p.M1L	NM_001142285	NP_001135757	P62847	RS24_HUMAN	Homo sapiens ribosomal protein S24 (RPS24), transcript variant d, mRNA.	1					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GATCGCCATCATGGTGAGTCT	0.607000													11	136					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													6	111					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079270	1079270	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:1079270C>G	uc002qwq.3	+	1	268	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Missense_Mutation_p.L47V	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	47					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCGGCTGAAGCTGACGAAAGA	0.463000													4	92					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811425	35811425	+	Silent	SNP	G	G	A			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	uc003zye.3	-	1	733	c.618C>T	c.(616-618)gaC>gaT	p.D206D	SPAG8_uc003zyg.3_Silent_p.D206D	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	206						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCTCAGAGTCAGGGCCAG	0.627000													32	133					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898643	112898643	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	uc004bei.2	+	8	1707	c.1515C>T	c.(1513-1515)caC>caT	p.H505H	PALM2-AKAP2_uc004bej.4_Silent_p.H273H|PALM2-AKAP2_uc004bek.4_Silent_p.H273H|PALM2-AKAP2_uc004bel.1_Silent_p.H83H|PALM2-AKAP2_uc011lwi.2_Silent_p.H131H|PALM2-AKAP2_uc004bem.3_Silent_p.H131H|PALM2-AKAP2_uc010mtw.1_Silent_p.H91H|PALM2-AKAP2_uc011lwj.2_Silent_p.H42H|PALM2-AKAP2_uc004ben.3_Silent_p.H42H	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	42							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGATCACCACGAATCCCTGG	0.493000													92	104					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													3	33					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	uc003iab.4	+	0	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	113					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGGAGGAGGACACCTACACG	0.622000													24	170					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	uc021xik.1	+	42	3890	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413000													8	39					0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	C	T	rs4950650		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:148889678C>T	uc009wkv.1	+	6		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000													5	61					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47202192	47202192	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	uc001ndw.3	-	4	604	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_uc001ndy.3_Silent_p.A87A|PACSIN3_uc001ndx.3_Silent_p.A87A	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	87					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677000													7	71					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92625466	92625466	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr14:92625466A>G	uc001yah.2	+	13	2229	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	654				K -> R (in Ref. 3; AAH70095).	histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAGAACTAAAGGATGATGGA	0.413000													4	85					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186056428	186056428	+	Silent	SNP	C	C	T			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	uc001grq.1	+	58	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3042	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAGCTGGCGAAAGCAAGA	0.348000													39	39					0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	uc010qpu.1	-	5	785	c.713A>G	c.(712-714)tAt>tGt	p.Y238C	SEMA4G_uc001krv.3_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krx.3_Intron|SEMA4G_uc001krw.2_Intron|MRPL43_uc001kry.1_Missense_Mutation_p.M196V	NM_032112	NP_115488	Q8N983	RM43_HUMAN	Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502000													54	58					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:195447912_195447914delTTC	uc010hzo.3	+	0	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611													7	12	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	uc003yau.2	+	1	672	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.Y95fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.Y95fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)			94	165	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													3	6	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:101680157delT	uc001tia.1	+	4	541	c.385delT	c.(385-387)tttfs	p.F129fs	UTP20_uc009ztz.1_Frame_Shift_Del_p.F129fs	NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	129					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAGAGTTTTTTTTGAC	0.398													7	239	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-	rs144340710		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	uc002gim.2	-	6	893_899	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.H233fs	TP53_uc002gig.1_Frame_Shift_Del_p.H233fs|TP53_uc002gih.3_Frame_Shift_Del_p.H233fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.H101fs|TP53_uc010cnf.1_Frame_Shift_Del_p.H101fs|TP53_uc002gii.1_Frame_Shift_Del_p.H101fs|TP53_uc010cni.1_Frame_Shift_Del_p.H233fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H233fs|TP53_uc002gij.2_Frame_Shift_Del_p.H233fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.H140fs|TP53_uc002gio.2_Frame_Shift_Del_p.H101fs|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.	233	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.Y234C(172)|p.Y234H(38)|p.N235S(28)|p.Y234N(26)|p.Y234S(15)|p.N235D(14)|p.Y234D(11)|p.I232F(8)|p.Y141C(8)|p.N235I(8)|p.Y234*(8)|p.0?(8)|p.Y234del(6)|p.N235T(6)|p.I232N(6)|p.I232T(6)|p.?(5)|p.H233fs*6(5)|p.I232V(5)|p.N235fs*5(4)|p.H233Y(4)|p.N235Y(4)|p.H233Q(4)|p.N235fs*12(4)|p.C229_H233delCTTIH(4)|p.N235del(4)|p.N235fs*6(2)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.Y234Y(2)|p.Y234F(2)|p.I232fs*5(2)|p.I232_Y236delIHYNY(2)|p.N235>XX(2)|p.N235M(2)|p.Y234R(2)|p.N235H(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.Y234_N235insX(2)|p.H233del(2)|p.I232S(2)|p.Y234fs*6(2)|p.I232fs*15(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233R(1)|p.Y141N(1)|p.I232L(1)|p.H233fs*14(1)|p.H233P(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.Y141H(1)|p.Y141D(1)|p.S227_I232delSDCTTI(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.I232fs*8(1)|p.Y236fs*5(1)|p.I232I(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)		TACACATGTAGTTGTAGTGGATGGTGG	0.570		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)			51	10	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:46299147_46299149delCCT	uc002pdm.3	-	5	2303_2305	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E447del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													8	183	---	---	---	---					
RPS26P11	441502	broad.mit.edu	37	X	71264810	71264810	+	Splice_Site	DEL	A	A	-			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:71264810delA	uc004eai.3	+	1		c.553_splice	c.e1+1		NHSL2_uc011mqa.2_Intron					Homo sapiens ribosomal protein S26 pseudogene 11 (RPS26P11), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)	4						AATTGTACTTAAAAAAAAAAA	0.448													3	4	---	---	---	---					
