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
TRIM5	85363	broad.mit.edu	37	11	5686810	5686810	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:5686810C>A	ENST00000396847.3	-	7	1206	c.971G>T	c.(970-972)tGt>tTt	p.C324F	TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TAATAGAGAACATAAAATTCT	0.373000											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	43					2.94398e-08	3.10754e-08	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68265336	68265336	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:68265336G>A	ENST00000347230.4	-	11	1781	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	548					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGATTTGCAGCACCTACAAA	0.443000													14	23					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469466	10469466	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:10469466C>T	ENST00000382483.3	-	4	2365	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	714					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCAGAGGCCTGTGTCCTGG	0.612000													20	28					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229690	20229690	+	Missense_Mutation	SNP	C	C	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:20229690C>A	ENST00000418063.2	+	4	1439	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	443						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCTTAGCACACATAAGATAAT	0.388000													8	22					1.06961e-07	1.11663e-07	1	1	0
KRTAP11-1	0	broad.mit.edu	37	21	32253792	32253792	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:32253792G>A	ENST00000332378.4	-	1	82	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAATGCAGCGTCCTCCAATG	0.542000													29	63					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:48196010C>T	ENST00000080059.7	-	2	66	c.67G>A	c.(67-69)Gca>Aca	p.A23T	HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	207	Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602000											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	18					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:11461589A>G	ENST00000279575.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	152	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602000										HNSCC(22;0.051)			8	342					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807028	22807028	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:22807028T>C	ENST00000361524.3	-	4	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	285					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCGTGGCAGTAGACACACTG	0.547000			T	PAX5	ALL								28	39					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227862	71227862	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:71227862G>T	ENST00000554752.2	-	3	857	c.858C>A	c.(856-858)agC>agA	p.S286R	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	286	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAATCTTGTTGCTCAGGTCTC	0.493000													15	13					7.93312e-07	8.19181e-07	1	1	0
AREL1	9870	broad.mit.edu	37	14	75151317	75151317	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:75151317C>T	ENST00000356357.4	-	4	598	c.83G>A	c.(82-84)cGt>cAt	p.R28H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GCTGACTACACGTGCGGCAAG	0.517000													23	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489454	179489454	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179489454G>A	ENST00000589042.1	-	242	44777	c.44553C>T	c.(44551-44553)ccC>ccT	p.P14851P	TTN_ENST00000342175.6_Silent_p.P5978P|TTN_ENST00000460472.2_Silent_p.P5786P|TTN_ENST00000359218.5_Silent_p.P5911P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.P13210P|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.P12283P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13210	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCAACTGGGGGTTCTGAAA	0.478000													21	21					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433000													4	204					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													4	23					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71234964	71234964	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:71234964G>A	ENST00000418814.2	+	15	2791	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	726										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTTCTATTGGAGAATCATTA	0.318000													6	53					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939061	50939061	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:50939061T>C	ENST00000357701.5	+	3	189	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	46					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTCCCCGACTGCAGAGGAGC	0.662000													7	10					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373000	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	31					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71007758	71007758	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:71007758C>T	ENST00000393567.2	-	34	5353	c.5203G>A	c.(5203-5205)Gtc>Atc	p.V1735I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1735										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCTCTGGACGAACCATTCA	0.483000													7	47					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26084290	26084290	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:26084290C>T	ENST00000313735.6	-	27	3677	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1148					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGACATCTCCAGGCTGCTGG	0.547000											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	60					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145667765	145667765	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:145667765G>A	ENST00000409379.3	-	6	638	c.609C>T	c.(607-609)cgC>cgT	p.R203R		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	203					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGTAGCGGGCGCGGAATAGGT	0.652000													21	31					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179742	3179742	+	Missense_Mutation	SNP	G	G	A	rs145561195	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:3179742G>A	ENST00000246115.3	+	1	1007	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	318					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.V318M(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGCAGAGCCGTGCTCAGCTT	0.687000													32	70					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771612	143771612	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:143771612G>A	ENST00000408898.2	+	1	338	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACCCAGATGTTTCTGTTTT	0.537000													44	81					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99640052	99640052	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:99640052C>T	ENST00000298819.4	-	13	2085	c.1730G>A	c.(1729-1731)aGt>aAt	p.S577N	CRTAC1_ENST00000370597.3_Silent_p.K591K|CRTAC1_ENST00000370591.2_Silent_p.K591K			Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	0	EGF-like.					proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGACTGCACTTCTTGTTGG	0.572000													34	18					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63975932	63975932	+	Missense_Mutation	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:63975932T>A	ENST00000398590.3	+	10	1995	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q|ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000295900.6_Missense_Mutation_p.L481Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	481	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACCCTCCCCTGCCTGCCACT	0.552000													19	22					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110412	106110412	+	RNA	SNP	C	C	T	rs117098144	by1000genomes	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:106110412C>T	ENST00000390545.2	-	0	323																											TACCTGGGCACGGTGGGCACT	0.617000													69	102					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43916839	43916839	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:43916839C>T	ENST00000336086.6	-	4	4330	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000453200.1_Silent_p.Q741Q			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	741					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAGGTCCTGGCTGAAGC	0.602000													21	54					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887324	47887324	+	Missense_Mutation	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:47887324A>G	ENST00000446256.2	+	11	1529	c.957A>G	c.(955-957)atA>atG	p.I319M	DHX30_ENST00000457607.1_Missense_Mutation_p.I386M|DHX30_ENST00000445061.1_Missense_Mutation_p.I358M|DHX30_ENST00000348968.4_Missense_Mutation_p.I330M	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	358						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGCAAGATAGAGACCTTCC	0.597000													20	20					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	905681	905681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:905681C>T	ENST00000379409.2	+	3	238	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.2_Nonsense_Mutation_p.R70*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	70										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGAACCAGCGAGAAAACCT	0.617000													11	25					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	125					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039052	11039052	+	RNA	SNP	T	T	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:11039052T>A	ENST00000470054.1	-	0	1151									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAGAGTCCATCAATCCAGTA	0.383000													23	546					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:57054711C>T	ENST00000436936.1	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000262510.6_Silent_p.N29N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562000													4	44					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128628858	128628858	+	Silent	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:128628858A>G	ENST00000272647.5	-	4	743	c.483T>C	c.(481-483)aaT>aaC	p.N161N	AMMECR1L_ENST00000393001.1_Silent_p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	161	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTGAATGAAGATTCATGGCTG	0.448000													21	25					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32653043	32653043	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr13:32653043C>T	ENST00000380250.3	+	2	639	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGAAAGGGCCGCCAACCATG	0.502000													94	147					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313000													17	11					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981649	61981649	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:61981649T>C	ENST00000370263.4	-	5	1335	c.1114A>G	c.(1114-1116)Atc>Gtc	p.I372V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	372					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ATGGACTCGATGAGCCGCCGG	0.672000													5	19					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:26370798G>A	ENST00000356386.2	+	5	870	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	228						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TTCCCTCCTCGGCCTGGAAAA	0.537000													6	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640529	179640529	+	Missense_Mutation	SNP	C	C	T	rs150884428		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179640529C>T	ENST00000589042.1	-	28	6286	c.6062G>A	c.(6061-6063)cGa>cAa	p.R2021Q	TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2021Q|TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1783							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTCTTTCGAGACTTGAG	0.458000													21	159					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026705	37026705	+	Silent	SNP	C	C	T	rs149618786	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCGCCGTGACGAGTTTTTAC	0.527000													33	9					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461583	11461583	+	Missense_Mutation	SNP	C	C	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:11461583C>G	ENST00000279575.1	-	3	367	c.334G>C	c.(334-336)Ggt>Cgt	p.G112R	PRB4_ENST00000445719.2_Splice_Site_p.G112_splice|PRB4_ENST00000535904.1_Missense_Mutation_p.G112R	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	154	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGTGGGGTACCTTGGGACTGG	0.607000										HNSCC(22;0.051)			8	310					0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249242	3249242	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:3249242G>A	ENST00000389832.5	-	2	1094	c.788C>T	c.(787-789)gCg>gTg	p.A263V	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGGCCGCGCAGTGCAC	0.672000													6	9					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432644	2432644	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:2432644C>T	ENST00000452833.1	-	18	2734	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R907H|TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	907						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACCCGGCGGAAGATCCA	0.627000													4	40					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151445	105151445	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:105151445C>T	ENST00000303694.5	+	3	1362	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	308					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAAGTCTACGAGAACTACT	0.473000													14	22					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10417231	10417231	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:10417231C>T	ENST00000397077.1	-	10	1739	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	ATP2B2_ENST00000383800.4_Silent_p.T388T|ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000352432.4_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	433					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGACGGGCGTGCACTCAG	0.587000													24	45					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99284801	99284801	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:99284801C>T	ENST00000375241.1	-	12	1781	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	444					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGAGGAATAGCGTTTGTTTTG	0.423000													28	41					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325299	12325299	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:12325299C>T	ENST00000317702.5	+	4	745	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	171					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCGTCATGCCCTCGCCCAA	0.617000													4	119					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262562	39262562	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr22:39262562G>A	ENST00000407418.3	-	5	1014	c.891C>T	c.(889-891)ccC>ccT	p.P297P	CBX6_ENST00000216083.6_Silent_p.P279P			O95503	CBX6_HUMAN	chromobox homolog 6	297					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCACGGTCTCGGGGAGGAGCT	0.741000													3	10					0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758408	23758408	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:23758408C>T	ENST00000336689.3	-	23	2371	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H|ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H|ASAP3_ENST00000484906.1_5'UTR	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	776					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTTCAGAACGATCTGGAAT	0.502000													10	21					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323624	44323624	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:44323624G>C	ENST00000354250.2	+	3	571	c.502G>C	c.(502-504)Gct>Cct	p.A168P	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TGATGATGAGGCTGACGTTTC	0.542000													49	119					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049735	63049735	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:63049735G>A	ENST00000439174.2	-	2	640	c.395C>T	c.(394-396)gCa>gTa	p.A132V	GNA13_ENST00000541118.1_Missense_Mutation_p.A37V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCCTTGGGCTGCCATGGGGGC	0.488000													5	297					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24720070	24720070	+	Silent	SNP	G	G	A	rs139735308		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:24720070G>A	ENST00000396475.2	+	12	1676	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	MPP6_ENST00000409761.1_Silent_p.P347P|MPP6_ENST00000222644.4_Silent_p.P459P	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	459	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCGGCTCCGGAGCTAGAGA	0.413000													49	118					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789815	130789815	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:130789815G>A	ENST00000276708.4	-	2	900	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	7						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGCTAATGCGTTCCAACATG	0.408000													28	47					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666834	11666834	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:11666834C>T	ENST00000262442.3	+	36	7141	c.7073C>T	c.(7072-7074)aCg>aTg	p.T2358M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2358					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTGACCACGGAGGACATC	0.502000													32	68					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47500629	47500629	+	Splice_Site	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:47500629A>G	ENST00000247161.3	-	2	310		c.e2+1		ELK1_ENST00000343894.4_Splice_Site|ELK1_ENST00000376983.3_Splice_Site|ELK1_ENST00000592066.1_Splice_Site	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GAGAGACTGTACCTTGTCATA	0.478000													25	4					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212102	26212102	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:26212102G>A	ENST00000379034.1	+	2	288	c.139G>A	c.(139-141)Gct>Act	p.A47T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCTTCTCGCGCTTGTCTGGG	0.552000													50	8					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667000													23	22					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	346800	346800	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:346800C>T	ENST00000400256.3	-	5	1029	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	274					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTGGCCAACGCAGAGTTGT	0.502000													26	52					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21728850	21728850	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:21728850C>T	ENST00000261195.2	-	3	699	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	149					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATCATTGGCTTCTCGGTCA	0.438000													45	51					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50011490	50011490	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:50011490G>A	ENST00000322246.4	-	2	139	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	47					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTACTAAAGGTGATATGGTG	0.408000													5	72					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48139472	48139472	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:48139472T>C	ENST00000381501.3	-	18	2014	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	619	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGTTCATCTATTGTGCGCA	0.443000													11	26					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	rs121918454		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	97					1.23904e-05	1.25222e-05	1	1	0
TRGV2	0	broad.mit.edu	37	7	38402510	38402510	+	RNA	SNP	T	T	A	rs3999869		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:38402510T>A	ENST00000426402.2	-	0	498																											CATTTTCAATTAGATTTCGCA	0.463000													5	89					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	11					0.004672	0.004672	1	1	0
NUP155	9631	broad.mit.edu	37	5	37293066	37293066	+	Missense_Mutation	SNP	T	T	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:37293066T>G	ENST00000231498.3	-	34	4155	c.3952A>C	c.(3952-3954)Aag>Cag	p.K1318Q	NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1318					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGGCTTCTTCATTCTGTTC	0.299000													10	101					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572000													5	58					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16957131	16957131	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:16957131G>T	ENST00000377833.4	-	47	7316	c.7251C>A	c.(7249-7251)gaC>gaA	p.D2417E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2417	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTATGCTGTCAGGAATGG	0.428000													31	11					2.47316e-13	2.70057e-13	1	1	0
PCLO	27445	broad.mit.edu	37	7	82545708	82545708	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:82545708C>T	ENST00000423517.2	-	7	11931	c.11594G>A	c.(11593-11595)aGc>aAc	p.S3865N	PCLO_ENST00000437081.1_Missense_Mutation_p.S585N|PCLO_ENST00000333891.8_Missense_Mutation_p.S3865N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3796	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATAAACTGGCTGAATTCAGT	0.463000													104	272					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21462709	21462709	+	Silent	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:21462709G>A	ENST00000417816.2	-	1	407	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGGCAGTTGACTTTCTCGG	0.677000													15	13					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11521486	11521486	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:11521486G>T	ENST00000423059.3	-	7	2197	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	649	TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTGAGCAGGTGTGTGAGCA	0.562000										HNSCC(18;0.044)			5	108					1.23904e-05	1.25222e-05	1	1	0
SPDEF	25803	broad.mit.edu	37	6	34511928	34511928	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:34511928G>A	ENST00000374037.3	-	2	719	c.305C>T	c.(304-306)gCg>gTg	p.A102V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCTGCCCGCTGGGGCTTG	0.677000													16	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578400G>T	ENST00000420246.2	-	5	662	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000269305.4_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H|TP53_ENST00000455263.2_Missense_Mutation_p.P177H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)		CTCATGGTGGGGGCAGCGCCT	0.647000		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)			31	29					3.1745e-13	3.42701e-13	1	1	0
NAA11	84779	broad.mit.edu	37	4	80246628	80246628	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:80246628G>A	ENST00000286794.4	-	1	576	c.404C>T	c.(403-405)cCt>cTt	p.P135L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	135	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATAGTATTTAGGTTCCACCTC	0.488000													22	42					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55563343	55563343	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:55563343C>T	ENST00000294383.6	-	48	5642	c.5643G>A	c.(5641-5643)ttG>ttA	p.L1881L	USP24_ENST00000407756.1_Silent_p.L1721L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1881					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTGAATTACCAAGACGCTAG	0.338000													7	9					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387651	196387651	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:196387651C>T	ENST00000328557.4	+	3	1340	c.1137C>T	c.(1135-1137)acC>acT	p.T379T		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GAGCGCTCACCGAGCTGGACC	0.637000													30	62					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	331					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1957053	1957053	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:1957053G>A	ENST00000378585.4	+	4	429	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	116						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCGCTTCGTGGACAAGCT	0.617000													28	40					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203424	140203424	+	Silent	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:140203424C>T	ENST00000529859.1	+	1	2064	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGTCCCGAGGCTGCCC	0.677000													29	86					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	244							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463000													4	185					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566495	129566495	+	Missense_Mutation	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:129566495G>A	ENST00000422113.2	-	7	2058	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	578						integral to membrane		p.R578W(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCAGGACCCGCACCATGGCG	0.652000													30	33					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59283161	59283161	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:59283161C>T	ENST00000329328.3	+	1	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATGTCTATGCCCGGCCCTTC	0.552000													88	104					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													4	78					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275806	159275806	+	Missense_Mutation	SNP	G	G	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:159275806G>T	ENST00000368115.1	+	5	459	c.360G>T	c.(358-360)gaG>gaT	p.E120D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	120	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTCTGCTGAGGTGGTGATGG	0.448000													19	32					5.03518e-11	5.37463e-11	1	1	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	rs28934874		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578479G>C	ENST00000420246.2	-	5	583	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612000		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)			18	43					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109883360	109883360	+	Missense_Mutation	SNP	C	C	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:109883360C>T	ENST00000256637.6	-	10	1308	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	417					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGAGAGCACGCTTGTTATGTA	0.537000													21	23					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170473	207170473	+	Silent	SNP	T	T	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:207170473T>C	ENST00000374423.3	+	5	1607	c.1221T>C	c.(1219-1221)agT>agC	p.S407S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	407							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGAAATGAGTTTTGATTGCA	0.403000													29	33					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101548	81101548	+	Missense_Mutation	SNP	G	G	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:81101548G>C	ENST00000228641.3	+	1	272	c.50G>C	c.(49-51)gGg>gCg	p.G17A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACTTGGATGGGGAAAATGTT	0.498000													18	51					0	0	1	0	0
AL590714.1	0	broad.mit.edu	37	1	161192119	161192119	+	Silent	SNP	A	A	G			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:161192119A>G	ENST00000594609.1	+	2	54	c.54A>G	c.(52-54)gtA>gtG	p.V18V	APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000481413.1_5'UTR																							AAGAGTGGGTAGGGACAGGAG	0.532000													34	43					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1038429	1038431	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:1038429_1038431delCAC	ENST00000296849.5	+	10	1526_1528	c.1297_1299delCAC	c.(1297-1299)del	p.H437del	NKD2_ENST00000382730.2_In_Frame_Del_p.AP72del|NKD2_ENST00000274150.4_3'UTR	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	437	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGGCACGAGcaccaccaccacc	0.685													2	4	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													19	1533	---	---	---	---					
UBE2Q2P3	0	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312													2	4	---	---	---	---					
NRIP1	8204	broad.mit.edu	37	21	16339588	16339588	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:16339588delT	ENST00000400202.1	-	3	1638	c.926delA	c.(925-927)cgfs	p.Q309fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	309	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACATCCTTCTGGCCATTTTC	0.433													18	71	---	---	---	---