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
HSPG2	3339	broad.mit.edu	37	1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3653	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617													6	72	---	---	---	---
RPA2	6118	broad.mit.edu	37	1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537								Direct reversal of damage;Nucleotide excision repair (NER)					5	63	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281161	152281161	+	Silent	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:152281161G>T	ENST00000368799.1	-	3	6236	c.6201C>A	c.(6199-6201)ccC>ccA	p.P2067P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2067	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTGATGGGGCCCAGCTT	0.562									Ichthyosis				8	868	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185987441	185987441	+	Silent	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1809	Ig-like C2-type 15.				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						TGGCAGCAAATACTGCTGGAG	0.393													32	92	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214819712	214819712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:214819712G>T	ENST00000366955.3	+	13	6967	c.6799G>T	c.(6799-6801)Gag>Tag	p.E2267*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2363	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCAGTTAAAGGAGCTAAATGA	0.423													5	118	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24952626	24952626	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:24952626C>A	ENST00000405141.1	+	18	3854	c.3143C>A	c.(3142-3144)cCg>cAg	p.P1048Q	NCOA1_ENST00000395856.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000538539.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.P1048Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.P1048Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.P1048Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.P897Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1048									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAGACCTCCGGCTGCACCT	0.488			T	PAX3	alveolar rhadomyosarcoma								4	150	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231155227	231155227	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000343805.6_Silent_p.P531P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	591	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418													4	105	---	---	---	---
ACKR3	57007	broad.mit.edu	37	2	237489567	237489567	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:237489567C>A	ENST00000272928.3	+	2	769	c.459C>A	c.(457-459)ccC>ccA	p.P153P		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CCAACACCCCCAGCAGCAGGA	0.562													5	190	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13370362	13370362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:13370362C>A	ENST00000254508.5	-	31	4277	c.4195G>T	c.(4195-4197)Gga>Tga	p.G1399*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1399					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACGGTCATTCCCAAAGGCACG	0.537													5	83	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14536380	14536380	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612													12	43	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532													8	65	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	145					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368													17	24	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259686	122259686	+	Silent	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	ENST00000462315.1	-	8	1691	c.1398C>G	c.(1396-1398)acC>acG	p.T466T	PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000360356.2_Silent_p.T501T|PARP9_ENST00000492382.1_Silent_p.T46T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448													17	161	---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129241302	129241302	+	Silent	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:129241302C>A	ENST00000305031.4	+	1	1138	c.780C>A	c.(778-780)gcC>gcA	p.A260A	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	260						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCATGCGCGCCGACGACGATG	0.567													4	218	---	---	---	---
RBM22	55696	broad.mit.edu	37	5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000447771.2_Missense_Mutation_p.G254E|RBM22_ENST00000540000.1_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388													11	71	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	ENST00000311875.5	-	6	1153	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	233					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448													12	582	---	---	---	---
PNPLA1	285848	broad.mit.edu	37	6	36270248	36270248	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000312917.5_Splice_Site|PNPLA1_ENST00000388715.3_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	137	---	---	---	---
IMPG1	3617	broad.mit.edu	37	6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	564					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493													5	92	---	---	---	---
SHH	6469	broad.mit.edu	37	7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632													17	101	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1120	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682													9	55	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	ENST00000377110.3	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572													14	167	---	---	---	---
TGFBR1	7046	broad.mit.edu	37	9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R|TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R|TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	283	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413													16	122	---	---	---	---
INPP5E	56623	broad.mit.edu	37	9	139333278	139333278	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:139333278G>T	ENST00000371712.3	-	1	996	c.594C>A	c.(592-594)agC>agA	p.S198R		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	198	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CGATGTCCAGGCTCAGGGCAG	0.711													3	27	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	888969	888969	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403													9	30	---	---	---	---
HECTD2	143279	broad.mit.edu	37	10	93253266	93253266	+	Splice_Site	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	ENST00000446394.1	+	15	1633		c.e15+1		HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308													15	30	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2549250	2549250	+	Splice_Site	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617													30	77	---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	SESN3_ENST00000278499.2_Missense_Mutation_p.N245S|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	384					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403													4	64	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118972268	118972268	+	Missense_Mutation	SNP	C	C	A	rs1046375		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:118972268C>A	ENST00000409993.2	-	3	1649	c.98G>T	c.(97-99)cGg>cTg	p.R33L	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.R33L			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	33				R -> L (in Ref. 1; CAB04787).	dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAAGTGGCCCCGGAAGGCCGG	0.617											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	223	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567													12	44	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	ENST00000395670.3	-	18	2896	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	826				K -> Q (in Ref. 2; AAP97680).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343													74	177	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	832					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313													12	52	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57486300	57486300	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:57486300C>A	ENST00000300131.3	+	3	1405	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I	NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.L343I	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	343	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGAGTGGAGCTCTTCTCTTT	0.582													4	60	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70072612	70072612	+	Silent	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000553096.1_Silent_p.Y75Y|BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000488961.1_Silent_p.Y19Y	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	181						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358													6	50	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294													10	28	---	---	---	---
MZT1	440145	broad.mit.edu	37	13	73293092	73293092	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:73293092T>G	ENST00000377818.3	-	2	307	c.223A>C	c.(223-225)Aag>Cag	p.K75Q		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	75					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTCCAACCTTCAGTGCTTCA	0.358													13	170	---	---	---	---
IGHV1-18	28468	broad.mit.edu	37	14	106641580	106641580	+	RNA	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:106641580C>T	ENST00000390605.2	-	0	392																											CAGTAATACACGGCCGTGTCG	0.542													91	69	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48707834	48707834	+	Silent	SNP	A	A	G	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2650	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582													47	110	---	---	---	---
CYP19A1	1588	broad.mit.edu	37	15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A|CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	339					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTACCAATAACAGTCTGGAT	0.323													10	23	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3789711	3789711	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:3789711C>A	ENST00000262367.5	-	25	4957	c.4148G>T	c.(4147-4149)gGg>gTg	p.G1383V	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1345V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1383	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGACATTTCCCCAGAATCCAC	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	41	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56436913	56436913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:56436913C>A	ENST00000290649.5	-	7	1168	c.958G>T	c.(958-960)Gga>Tga	p.G320*		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	320					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATGTTTCCAACCACACGT	0.438													4	122	---	---	---	---
RPA1	6117	broad.mit.edu	37	17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493								Nucleotide excision repair (NER)					31	66	---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73497899	73497899	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:73497899G>T	ENST00000321617.3	-	18	3842	c.3256C>A	c.(3256-3258)Ccg>Acg	p.P1086T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P1004T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1086	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGCGGCCGGGGGTTCTGTC	0.672													5	240	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1113561	1113561	+	Silent	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	740					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697													4	59	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12788	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567													49	129	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	180	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662													13	47	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	ENST00000354587.3	-	17	2553	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.D754N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATGGACGTGTCGCTGTCCCGC	0.672													10	23	---	---	---	---
UBASH3A	53347	broad.mit.edu	37	21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	88						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537													4	112	---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	147					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612													22	59	---	---	---	---
DRG1	4733	broad.mit.edu	37	22	31829930	31829930	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:31829930G>T	ENST00000331457.4	+	9	1238	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	359					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TGGAGGATGAGGATGTCATTC	0.488													4	80	---	---	---	---
LRRC41	10489	broad.mit.edu	37	1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)ccafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	471										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567													13	77	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)acafs	p.T277fs	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505													82	330	---	---	---	---
KIAA0247	9766	broad.mit.edu	37	14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttcfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	24						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493													23	122	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tccfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	461	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGAAAAGAATCCATTGTGCAA	0.542													45	131	---	---	---	---
