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
ARID1A	8289	broad.mit.edu	37	1	27088651	27088651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:27088651C>T	ENST00000324856.7	+	7	2631	c.2260C>T	c.(2260-2262)Cag>Tag	p.Q754*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q754*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q371*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	754					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q754*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGTTATATGCAGAGGAACCC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	87					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56436943	56436943	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr16:56436943G>A	ENST00000290649.5	-	7	1138	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	310					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R310C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTGTGCCGACGAATTCGACGT	0.428000													25	55					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26675489	26675489	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr4:26675489G>C	ENST00000264866.4	+	11	1073	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TBC1D19_ENST00000511789.1_Missense_Mutation_p.L200F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	265	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.L265F(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCTCATTTTGAATATTTCCA	0.393000													5	17					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028392	59028392	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:59028392C>T	ENST00000594051.1	-	2	1129	c.649G>A	c.(649-651)Gag>Aag	p.E217K	ZBTB45_ENST00000600990.1_Missense_Mutation_p.E217K|ZBTB45_ENST00000354590.3_Missense_Mutation_p.E217K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E217K(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCATCGGTCTCATCGTCACTT	0.652000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	324					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139160	72139160	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:72139160G>A	ENST00000555818.1	+	9	3273	c.2925G>A	c.(2923-2925)gcG>gcA	p.A975A	SIPA1L1_ENST00000358550.2_Silent_p.A975A|SIPA1L1_ENST00000537413.1_Silent_p.A450A|SIPA1L1_ENST00000381232.3_Silent_p.A975A	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	975	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.A975A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCATTGTGGCGGATGTGGAGC	0.562000													23	34					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	45					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241767856	241767856	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:241767856G>A	ENST00000366554.2	-	2	505	c.399C>T	c.(397-399)acC>acT	p.T133T	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	133					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	p.T133T(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGCCAGCACGGTTAGGGTGG	0.507000													6	25					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469553	49469553	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:49469553G>C	ENST00000331825.6	+	3	472	c.265G>C	c.(265-267)Gag>Cag	p.E89Q		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	89	Ferritin-like diiron.			E -> W (in Ref. 12; AA sequence).	cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	p.E89Q(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGCTGAAGATGAGTGGGGTAA	0.512000													15	31					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63280140	63280140	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:63280140C>T	ENST00000282549.2	+	3	291	c.15C>T	c.(13-15)ctC>ctT	p.L5L	OTX1_ENST00000366671.3_Silent_p.L5L	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	5						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L5L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGTCTTACCTCAAACAACCCC	0.687000													18	92					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38274173	38274173	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr22:38274173G>A	ENST00000412331.2	+	11	2152	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	EIF3L_ENST00000406934.1_Missense_Mutation_p.D426N|EIF3L_ENST00000381683.6_Missense_Mutation_p.D476N	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	524						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.D524N(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTACATTGATAAGGTATG	0.453000													17	31					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457570	100457570	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:100457570G>C	ENST00000354161.3	+	8	1166	c.1041G>C	c.(1039-1041)ttG>ttC	p.L347F	SLC12A9_ENST00000540482.1_Missense_Mutation_p.L347F|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000275729.3_Missense_Mutation_p.L258F|SLC12A9_ENST00000428758.1_Missense_Mutation_p.L347F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.L258F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	347						integral to membrane|plasma membrane	cation:chloride symporter activity	p.L347F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CACTGGTGTTGATCGGAATCT	0.597000													25	53					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34649001	34649001	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr21:34649001G>A	ENST00000290200.2	+	3	382	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	AP000295.9_ENST00000433395.2_Silent_p.L219L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta									p.E92K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGTCAGGGCTGAATTTGCAGA	0.393000													45	77					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180014079	180014079	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:180014079C>T	ENST00000428443.3	-	7	842	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	176					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.E176K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAAGCAAGTTCATCTAATAAT	0.289000													6	12					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536678	5536678	+	Missense_Mutation	SNP	T	T	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:5536678T>G	ENST00000380184.1	-	1	1257	c.994A>C	c.(994-996)Atc>Ctc	p.I332L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	332								p.I332L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTATTATAGATGACTCGGGTT	0.498000													30	56					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3156082	3156082	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr4:3156082G>A	ENST00000355072.5	+	27	3706	c.3561G>A	c.(3559-3561)gaG>gaA	p.E1187E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1187					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.E1187E(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGGGAAGGAGAAAGAACCAG	0.473000													4	9					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60655841	60655841	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:60655841G>A	ENST00000582809.1	+	15	1448	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TLK2_ENST00000542523.1_Missense_Mutation_p.E366K|TLK2_ENST00000343388.7_Missense_Mutation_p.E366K|TLK2_ENST00000346027.5_Missense_Mutation_p.E398K|TLK2_ENST00000326270.9_Missense_Mutation_p.E420K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	420					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E420K(1)|p.E397K(1)|p.E398K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCTTTAGGAGGAAGCAGAGAT	0.368000													8	32					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224646	59224646	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:59224646C>T	ENST00000300127.2	+	1	236	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTGGACATCGTTTTTTCAT	0.463000													19	55					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25263896	25263896	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr20:25263896G>A	ENST00000216962.4	+	13	1713	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	535					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	p.V535M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CATCAGGGACGTGGCCAAGGT	0.622000													25	26					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555637	182555637	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:182555637G>A	ENST00000367559.3	-	2	558	c.305C>T	c.(304-306)gCg>gTg	p.A102V	RNASEL_ENST00000444138.1_Missense_Mutation_p.A102V|RNASEL_ENST00000539397.1_Missense_Mutation_p.A102V	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	102					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.A102V(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CACGCTCCCCGCAATCGCTGC	0.498000													9	36					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43826219	43826219	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:43826219C>T	ENST00000372462.1	+	6	1006	c.803C>T	c.(802-804)tCt>tTt	p.S268F	CDC20_ENST00000310955.6_Missense_Mutation_p.S268F|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	268					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	p.S268F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCAGTCACTCTGCCCGAGTG	0.498000													43	70					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54950106	54950106	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:54950106C>G	ENST00000173898.7	+	3	1253	c.1141C>G	c.(1141-1143)Cag>Gag	p.Q381E	TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.Q381E|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.Q381E|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	381					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.Q381E(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCTTGAGACTCAGGTTGCTGC	0.577000													6	18					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346598	48346598	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:48346598G>C	ENST00000319856.4	+	1	127	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E36Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAATATCACAGAATTTTTCAT	0.408000													23	69					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591540	121591540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:121591540C>A	ENST00000273668.2	+	5	712	c.641C>A	c.(640-642)tCa>tAa	p.S214*	EAF2_ENST00000451944.2_Nonsense_Mutation_p.S214*	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	214	Necessary for transactivation activity.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	p.S214*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AATTGTGTCTCAGGACATCCT	0.393000													3	51					0.004672	0.00470032	1	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389587	1389587	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr4:1389587C>T	ENST00000324803.4	+	1	4248	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	430	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.R430C(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTTTTTAATACGTTTTTATGT	0.443000													9	52					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785556	1785556	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:1785556C>T	ENST00000539485.1	-	26	3568	c.3335G>A	c.(3334-3336)cGc>cAc	p.R1112H	ATP8B3_ENST00000525591.1_Missense_Mutation_p.R1065H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R1102H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1102					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R1112H(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGTGTCGCGGCTGATCCA	0.602000													10	15					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123793	26123793	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr6:26123793C>G	ENST00000314332.5	-	1	345	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E114Q			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	114					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.E114Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TTGGTGCCCTCCGACACGGCG	0.582000													21	49					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926966	50926966	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:50926966G>A	ENST00000596074.1	+	4	251	c.229G>A	c.(229-231)Gga>Aga	p.G77R	SPIB_ENST00000439922.2_Silent_p.S57S|SPIB_ENST00000595883.1_Silent_p.S148S|SPIB_ENST00000270632.7_Silent_p.S148S|SPIB_ENST00000597855.1_Missense_Mutation_p.G137R			Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	0					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.S148S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACAGCGAGTCGGATGAGGCCC	0.672000													4	13					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59064389	59064389	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:59064389C>T	ENST00000559228.1	+	1	877	c.795C>T	c.(793-795)ccC>ccT	p.P265P	FAM63B_ENST00000450403.2_Silent_p.P265P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	265								p.P265P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGAACGGACCCTGCCCCTTGC	0.527000													14	28					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613864	27613864	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:27613864G>C	ENST00000225388.4	-	2	1206	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	383	Ser-rich.					nucleus|polysomal ribosome	protein binding|RNA binding	p.S383C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGATGATGAAGATGATGAAGA	0.393000													5	142					0	0	1	0	0
TREML1	340205	broad.mit.edu	37	6	41118012	41118012	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr6:41118012C>G	ENST00000426005.2	-	5	651	c.608G>C	c.(607-609)aGa>aCa	p.R203T	TREML1_ENST00000437044.2_Missense_Mutation_p.R92T|TREML1_ENST00000373127.4_Intron	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	203					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	p.R203T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTGAAACTCTGCTGCTCAG	0.572000													9	15					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323235	59323235	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:59323235C>G	ENST00000348370.4	+	2	647	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	RNF111_ENST00000559209.1_Missense_Mutation_p.Q72E|RNF111_ENST00000434298.1_Missense_Mutation_p.Q72E|RNF111_ENST00000557998.1_Missense_Mutation_p.Q72E|RNF111_ENST00000561186.1_Missense_Mutation_p.Q72E	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	72					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q72E(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGATGATTCTCAAAAGCAAGA	0.443000													10	15					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95406084	95406084	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr8:95406084C>G	ENST00000336148.5	-	9	1529	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.E469Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCAAAAAATTCTTGCAGATCA	0.318000								Direct reversal of damage;Homologous recombination					29	57					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214788288	214788288	+	Silent	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:214788288C>G	ENST00000366955.3	+	3	444	c.276C>G	c.(274-276)gtC>gtG	p.V92V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	92	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.V92V(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AACTTCAAGTCAAGGAGTCAC	0.368000													12	41					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502887	20502887	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:20502887C>T	ENST00000315693.2	-	1	32	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11K(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAATAAATTCCGATACCACT	0.373000													8	30					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096213	51096213	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:51096213C>G	ENST00000395542.2	-	12	3010	c.2826G>C	c.(2824-2826)caG>caC	p.Q942H	COBL_ENST00000265136.7_Missense_Mutation_p.Q860H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	860								p.Q860H(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGTTCTTCTCTGAGGCTTGA	0.587000													32	37					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197411420	197411420	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:197411420G>A	ENST00000367400.3	+	11	4138	c.4003G>A	c.(4003-4005)Gac>Aac	p.D1335N	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.D1223N|CRB1_ENST00000538660.1_Missense_Mutation_p.D799N|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.D816N|CRB1_ENST00000535699.1_Missense_Mutation_p.D1311N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1335					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.D1335N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGCGAGGTGGACGTAAGCAG	0.483000													115	138					0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40729545	40729545	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:40729545C>G	ENST00000393795.3	-	2	177	c.69G>C	c.(67-69)caG>caC	p.Q23H	PSMC3IP_ENST00000590760.1_5'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.Q23H|PSMC3IP_ENST00000587209.1_5'UTR	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	23					DNA recombination|meiosis	nucleus	DNA binding	p.Q23H(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGGCCGGTTCTGCTCCTGCA	0.662000													16	34					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28602410	28602410	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr18:28602410C>T	ENST00000434452.1	-	7	988	c.834G>A	c.(832-834)acG>acA	p.T278T	DSC3_ENST00000360428.4_Silent_p.T278T	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	278	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.T278T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATTTCAGGCGCGTATGCATTG	0.453000													3	40					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88872241	88872241	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr16:88872241G>C	ENST00000301019.4	+	5	1415	c.796G>C	c.(796-798)Gat>Cat	p.D266H		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	266					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	p.D266H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CAGGAGGTCAGATTACCAGCT	0.617000													9	15					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994592	144994592	+	Splice_Site	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:144994592C>T	ENST00000369359.4	-	4	589	c.552_splice	c.e4+1	p.R184_splice	PDE4DIP_ENST00000369356.4_Splice_Site_p.R47_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.R113_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.R184_splice|PDE4DIP_ENST00000369347.4_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369348.3_Splice_Site_p.R184_splice|PDE4DIP_ENST00000369349.3_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369351.3_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.R47_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	47					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R47Q(2)|p.R184Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCACTCACCCGCTTGTAGAT	0.612000			T	PDGFRB	MPD								6	164					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29664477	29664477	+	Silent	SNP	T	T	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:29664477T>G	ENST00000358273.4	+	43	6902	c.6519T>G	c.(6517-6519)gcT>gcG	p.A2173A	NF1_ENST00000356175.3_Silent_p.A2152A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2173					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.A2173A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAAGTCAGCTGCTGTCATTG	0.453000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	54					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658555	52658555	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:52658555G>A	ENST00000322146.8	-	5	2902	c.2381C>T	c.(2380-2382)gCa>gTa	p.A794V	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.A794V	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A794V(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGATGACGTGCTAGTGTTGA	0.423000													38	65					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55905608	55905608	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr16:55905608C>T	ENST00000521992.1	-	4	578	c.433G>A	c.(433-435)Gga>Aga	p.G145R	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.G10R|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000290567.9_Missense_Mutation_p.G116R|CES5A_ENST00000319165.9_Missense_Mutation_p.G116R	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	116						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G116R(1)|p.G145R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCTGACACTCCGAATTTCGGG	0.537000													12	25					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58599890	58599890	+	Silent	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:58599890C>A	ENST00000267485.7	-	3	1733	c.1539G>T	c.(1537-1539)ctG>ctT	p.L513L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	513						integral to membrane	binding	p.L513L(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCTTCTTGACAGCTGAGTAA	0.498000													22	55					1.10513e-12	1.19903e-12	1	1	0
NRK	203447	broad.mit.edu	37	X	105167115	105167115	+	Silent	SNP	A	A	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:105167115A>T	ENST00000428173.2	+	18	2922	c.2619A>T	c.(2617-2619)ccA>ccT	p.P873P	NRK_ENST00000243300.9_Silent_p.P872P			Q7Z2Y5	NRK_HUMAN	Nik related kinase	872							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.P873P(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACAGGTTCCAGATGGATTTA	0.363000										HNSCC(51;0.14)			44	83					0	0	1	0	0
MIR520G	574484	broad.mit.edu	37	19	54225506	54225506	+	RNA	SNP	G	G	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:54225506G>T	ENST00000385064.1	+	0	87					NR_030206.1																						GTTACCGTTTGGGAAAAGCAG	0.398000													13	27					9.31168e-06	9.78316e-06	1	1	0
SBF2	81846	broad.mit.edu	37	11	9861153	9861153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:9861153C>G	ENST00000256190.8	-	26	3484	c.3347G>C	c.(3346-3348)aGa>aCa	p.R1116T	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1116	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.R1116T(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGATAGTCTCTGAAACAAGC	0.463000													4	100					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145161555	145161555	+	Silent	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:145161555G>C	ENST00000558170.2	-	6	1919	c.735C>G	c.(733-735)ctC>ctG	p.L245L	ZEB2_ENST00000409487.3_Silent_p.L245L|ZEB2_ENST00000539609.3_Silent_p.L221L|ZEB2_ENST00000303660.4_Silent_p.L245L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	245						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.L245L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTAGCTACAGAGAGGGCAGG	0.542000													30	62					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85626533	85626533	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:85626533C>T	ENST00000280245.4	+	10	1471	c.959C>T	c.(958-960)aCa>aTa	p.T320I	CCDC83_ENST00000342404.3_Missense_Mutation_p.T289I|CCDC83_ENST00000376067.1_Missense_Mutation_p.T190I	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	289								p.T320I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCCAGAAACACATATAGGT	0.353000													14	42					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633081	143633081	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:143633081C>T	ENST00000408955.2	+	1	823	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y252Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCCTGTGCTACGGCACAACGA	0.512000													22	42					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61596969	61596969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr20:61596969G>T	ENST00000370349.3	+	11	1139	c.935G>T	c.(934-936)gGc>gTc	p.G312V	SLC17A9_ENST00000370351.4_Missense_Mutation_p.G318V|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	318					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.G318V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGGCATGGGCCTTGGCCTC	0.662000													62	163					2.32099e-22	2.56856e-22	1	1	0
CD99L2	83692	broad.mit.edu	37	X	149944650	149944650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:149944650G>A	ENST00000370377.3	-	9	769	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	CD99L2_ENST00000355149.3_Nonsense_Mutation_p.Q146*|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.Q169*|CD99L2_ENST00000437787.2_Nonsense_Mutation_p.Q145*|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	218					cell adhesion	cell junction|integral to membrane		p.Q218*(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTACGCTGAATGCTGAAG	0.612000													21	43					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88213467	88213467	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr10:88213467C>G	ENST00000298767.5	-	13	3251	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	WAPAL_ENST00000372075.1_Missense_Mutation_p.E194Q|WAPAL_ENST00000263070.7_Missense_Mutation_p.E194Q	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	927	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.E927Q(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCAGTCCTCCACTGCTTTG	0.413000													19	19					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13126722	13126722	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr9:13126722C>G	ENST00000319217.7	-	33	4761	c.4514G>C	c.(4513-4515)gGa>gCa	p.G1505A	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1505A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G364A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1505A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1505A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1519A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1472A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1472A|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1505	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.G1505A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TATGATGACTCCACTGAGTGT	0.408000													5	14					0	0	1	0	0
SUOX	6821	broad.mit.edu	37	12	56398128	56398128	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:56398128G>C	ENST00000394109.3	+	3	1679	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	SUOX_ENST00000548274.1_Missense_Mutation_p.E319Q|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000394115.2_Missense_Mutation_p.E319Q|SUOX_ENST00000266971.3_Missense_Mutation_p.E319Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E319Q			P51687	SUOX_HUMAN	sulfite oxidase	319	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.E319Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CGTCTGCTTTGAGGGACTGGA	0.602000													17	22					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39159580	39159580	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:39159580G>A	ENST00000301819.6	+	7	914	c.737G>A	c.(736-738)aGc>aAc	p.S246N	TTC21A_ENST00000431162.2_Missense_Mutation_p.S246N|TTC21A_ENST00000440121.1_Missense_Mutation_p.S205N	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	246							binding	p.S246N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAGATGAGAGCAATATTGAT	0.428000													32	22					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	7860740	7860740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr10:7860740G>T	ENST00000344293.5	+	1	274	c.68G>T	c.(67-69)tGg>tTg	p.W23L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	23				WDS -> TRP (in Ref. 4; CAB56032).	maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	p.W23L(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCGCTGGGCTGGGACTCGGTG	0.667000													7	2					8.12818e-05	8.48603e-05	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22166366	22166366	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:22166366C>T	ENST00000374695.3	-	72	9737	c.9658G>A	c.(9658-9660)Gag>Aag	p.E3220K		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3220	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.E3220K(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACAGTCAGCTCAGCTTCTTCA	0.642000													28	61					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199040	196199040	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:196199040C>G	ENST00000318037.3	-	6	1960	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	456					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E456Q(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTATCCACCTCCTTCTGAAGT	0.423000													65	50					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133601	177133601	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:177133601C>A	ENST00000367654.2	-	1	225	c.212G>T	c.(211-213)cGc>cTc	p.R71L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R71L|ASTN1_ENST00000367657.3_Missense_Mutation_p.R71L|ASTN1_ENST00000361833.2_Missense_Mutation_p.R71L			O14525	ASTN1_HUMAN	astrotactin 1	71					cell migration|neuron cell-cell adhesion	integral to membrane		p.R71L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGTCGTTGCGCACCGAGAA	0.647000													13	18					0.00136819	0.00139338	1	1	0
NPM2	10361	broad.mit.edu	37	8	21890671	21890671	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr8:21890671C>T	ENST00000397940.1	+	5	1316	c.301C>T	c.(301-303)Cca>Tca	p.P101S	NPM2_ENST00000521157.1_Missense_Mutation_p.P101S|NPM2_ENST00000289820.6_Missense_Mutation_p.P101S|NPM2_ENST00000381530.5_Missense_Mutation_p.P101S|NPM2_ENST00000518119.1_Missense_Mutation_p.P101S|NPM2_ENST00000520180.1_3'UTR			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	101					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	p.P101S(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GCTTTCTCCCCCAGTTACTTT	0.597000													8	44					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48681322	48681322	+	Splice_Site	SNP	A	A	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:48681322A>G	ENST00000334136.5	+	25	2691	c.2512_splice	c.e25-1	p.K838_splice	HDAC6_ENST00000376619.2_Splice_Site_p.K838_splice|HDAC6_ENST00000444343.2_Splice_Site_p.K852_splice			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	838					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.K838R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGGTTCCAGAGGTAGAAGAC	0.572000													3	24					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197036345	197036345	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:197036345C>T	ENST00000367412.1	-	1	52	c.9G>A	c.(7-9)ttG>ttA	p.L3L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	3					blood coagulation	extracellular region		p.L3L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCAGGTTTTTCAACCTCATCT	0.299000													9	49					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351273	146351273	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr6:146351273C>G	ENST00000392299.2	+	2	1090	c.620C>G	c.(619-621)tCt>tGt	p.S207C	GRM1_ENST00000492807.2_Missense_Mutation_p.S207C|GRM1_ENST00000355289.4_Missense_Mutation_p.S207C|GRM1_ENST00000507907.1_Missense_Mutation_p.S207C|GRM1_ENST00000361719.2_Missense_Mutation_p.S207C|GRM1_ENST00000282753.1_Missense_Mutation_p.S207C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	207					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S207C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTTGTCCCTTCTGACACTTTG	0.478000													20	60					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99927677	99927677	+	Splice_Site	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:99927677C>A	ENST00000331768.5	-	4	356	c.196_splice	c.e4-1	p.G66_splice	SETD3_ENST00000436070.2_Splice_Site_p.G66_splice|SETD3_ENST00000453938.1_Intron|SETD3_ENST00000329331.3_Splice_Site_p.G66_splice	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	66					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.G66V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AACGGACAGACCTATATTAAT	0.373000													12	43					0.00136819	0.00139338	1	1	0
RGS16	6004	broad.mit.edu	37	1	182571203	182571203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:182571203C>T	ENST00000367558.5	-	4	433	c.285G>A	c.(283-285)tgG>tgA	p.W95*		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	95	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.W95*(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CACAGGCCAGCCAGAACTCCA	0.537000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	75					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859054	105859054	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:105859054C>T	ENST00000258456.1	+	1	855	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	247						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R247W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGCGGGCCTGCGGCGCCTGCA	0.642000													41	76					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62168655	62168655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr20:62168655C>A	ENST00000217185.2	-	1	40	c.13G>T	c.(13-15)Gac>Tac	p.D5Y	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	5						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.D5Y(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGAGCCTGGTCCCGGGACACC	0.711000													9	4					0.000442599	0.000459197	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109358811	109358811	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:109358811C>G	ENST00000370001.3	-	16	2761	c.2493G>C	c.(2491-2493)agG>agC	p.R831S	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	831								p.R831S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAGTCGATTCCTCCACCTCT	0.373000													30	45					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216038	20216038	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:20216038G>A	ENST00000331723.1	+	1	452	c.452G>A	c.(451-453)tGt>tAt	p.C151Y		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C151Y(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTGCTGGTGTGGGGGTTTT	0.498000													14	48					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763767	92763767	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:92763767G>A	ENST00000318238.4	-	5	2734	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	SAMD9L_ENST00000437805.1_Silent_p.S506S|SAMD9L_ENST00000411955.1_Silent_p.S506S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	506								p.S506S(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATATGTCTCGCTTTTCAGGT	0.378000													38	70					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31279101	31279101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:31279101G>T	ENST00000357033.4	-	63	9463	c.9257C>A	c.(9256-9258)cCc>cAc	p.P3086H	DMD_ENST00000474231.1_Missense_Mutation_p.P626H|DMD_ENST00000343523.2_Missense_Mutation_p.P626H|DMD_ENST00000378723.3_Missense_Mutation_p.P18H|DMD_ENST00000361471.4_Missense_Mutation_p.P18H|DMD_ENST00000378680.2_Missense_Mutation_p.P18H|DMD_ENST00000378702.4_Missense_Mutation_p.P18H|DMD_ENST00000378677.2_Missense_Mutation_p.P3082H|DMD_ENST00000541735.1_Missense_Mutation_p.P626H|DMD_ENST00000378707.3_Missense_Mutation_p.P626H|DMD_ENST00000359836.1_Missense_Mutation_p.P626H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3086	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P3086H(1)|p.P18H(1)|p.P3082H(1)|p.P1745H(1)|p.P3081H(1)|p.P626H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTCATTTTGGGATGGTCCCA	0.393000													17	28					1.00905e-13	1.10928e-13	1	1	0
XRCC5	7520	broad.mit.edu	37	2	217012854	217012854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:217012854C>T	ENST00000392133.3	+	16	1986	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	XRCC5_ENST00000392132.2_Nonsense_Mutation_p.Q509*			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	509	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	p.Q509*(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACCCCCAATTCAGCAGCATAT	0.433000								Non-homologous end-joining					43	77					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135115594	135115594	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:135115594A>G	ENST00000370695.4	+	14	1704	c.1669A>G	c.(1669-1671)Aga>Gga	p.R557G	SLC9A6_ENST00000370698.3_Missense_Mutation_p.R525G|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R505G	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	525					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.R525G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AAATGAAAGGAGAACTACCAA	0.353000													45	83					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486375	36486375	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:36486375C>T	ENST00000342292.4	-	11	3097	c.3077G>A	c.(3076-3078)cGa>cAa	p.R1026Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1026						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1026Q(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCTGGCTCGAGCTGGGGC	0.612000													14	51					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170003513	170003513	+	Splice_Site	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:170003513C>G	ENST00000367765.1	-	7	2123	c.622_splice	c.e7+1	p.V208_splice	KIFAP3_ENST00000367767.1_Splice_Site_p.V204_splice|KIFAP3_ENST00000538366.1_Splice_Site_p.V170_splice|KIFAP3_ENST00000361580.2_Splice_Site_p.V248_splice	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	248					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.V248L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAAAGGATATCAGCTTTCTTC	0.328000													10	38					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	T	C	rs111331725	by1000genomes	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr20:29628261T>C	ENST00000278882.3	+	6	643	c.263T>C	c.(262-264)tTt>tCt	p.F88S	FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S|FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363000													5	41					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967475	41967475	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:41967475G>A	ENST00000298919.7	+	10	2502	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R965Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	965							ubiquitin-protein ligase activity|zinc ion binding	p.R707Q(2)|p.R965Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCATGATGCGAAGCAGGTTA	0.507000													5	16					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958264	143958264	+	Silent	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr8:143958264C>G	ENST00000292427.4	-	4	665	c.633G>C	c.(631-633)ctG>ctC	p.L211L	CYP11B1_ENST00000517471.1_Silent_p.L211L|CYP11B1_ENST00000377675.3_Silent_p.L282L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	211					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L211L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGTGGCCAACCAGGCCCAGCC	0.627000									Familial Hyperaldosteronism type I				8	13					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30770954	30770954	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr16:30770954G>C	ENST00000541260.1	-	5	891	c.561C>G	c.(559-561)ttC>ttG	p.F187L	C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR			A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	0										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						AAAGTTTCCAGAATGTTCCAG	0.537000													8	29					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699360	67699360	+	Missense_Mutation	SNP	T	T	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:67699360T>C	ENST00000545606.1	+	10	2349	c.1912T>C	c.(1912-1914)Tca>Cca	p.S638P		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	638					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	p.S638P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATTGCTGGGTCACCTTTGAA	0.413000													35	89					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958906	25958906	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:25958906G>A	ENST00000356865.6	-	10	2370	c.2259C>T	c.(2257-2259)atC>atT	p.I753I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	753					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.I753I(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCGGGTGCCGGATCACCACTG	0.602000													10	36					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29668239	29668239	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr22:29668239G>A	ENST00000397938.2	+	2	367	c.48G>A	c.(46-48)caG>caA	p.Q16Q	EWSR1_ENST00000332035.6_Silent_p.Q16Q|EWSR1_ENST00000414183.2_Silent_p.Q16Q|EWSR1_ENST00000332050.6_Silent_p.Q16Q|EWSR1_ENST00000406548.1_Silent_p.Q16Q|EWSR1_ENST00000331029.7_Silent_p.Q16Q|EWSR1_ENST00000333395.6_Silent_p.Q16Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	16	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.Q16Q(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCAGCAGGGGTAAGTCA	0.368000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								17	29					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469609	49469609	+	Silent	SNP	G	G	T	rs11553263		TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:49469609G>T	ENST00000331825.6	+	3	528	c.321G>T	c.(319-321)ctG>ctT	p.L107L		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	107	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	p.L107L(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGAAAAAGCTGAACCAGGCCC	0.547000													17	28					3.52763e-06	3.75376e-06	1	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307728	39307728	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:39307728C>T	ENST00000541347.1	-	2	512	c.273G>A	c.(271-273)ttG>ttA	p.L91L	CX3CR1_ENST00000542107.1_Silent_p.L91L|CX3CR1_ENST00000358309.3_Silent_p.L123L|CX3CR1_ENST00000399220.2_Silent_p.L91L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	91					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.L91L(1)|p.L123L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTTCATTTATCAAATAGTGAG	0.463000													17	27					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120298837	120298837	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:120298837C>T	ENST00000397843.2	+	8	632	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L53F|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L137F	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	156					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.L156F(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAGATTCCACTTGCCGACTC	0.527000			T	MLL	AML								54	103					0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49464213	49464213	+	Silent	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:49464213C>G	ENST00000293288.8	+	5	516	c.516C>G	c.(514-516)ctC>ctG	p.L172L	BAX_ENST00000345358.7_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000415969.2_Intron	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	0					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.L172L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		accgcgccctcaccaccgccc	0.672000													11	14					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938482	38938482	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:38938482C>A	ENST00000450244.1	-	14	2455	c.2257G>T	c.(2257-2259)Gat>Tat	p.D753Y	SCN11A_ENST00000456224.3_Missense_Mutation_p.D753Y|SCN11A_ENST00000302328.3_Missense_Mutation_p.D753Y|SCN11A_ENST00000444237.2_Missense_Mutation_p.D753Y			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	753					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D753Y(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGCCAGAAATCCCCCATGTGC	0.488000													12	11					2.27111e-07	2.43229e-07	1	1	0
ZXDA	7789	broad.mit.edu	37	X	57935303	57935303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:57935303A>T	ENST00000358697.4	-	1	1764	c.1552T>A	c.(1552-1554)Tgt>Agt	p.C518S		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	518	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C518S(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AACCTGGCACAGCAGCCTGCC	0.542000													19	24					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6580191	6580191	+	Silent	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr4:6580191G>C	ENST00000285599.3	+	3	393	c.357G>C	c.(355-357)gtG>gtC	p.V119V	MAN2B2_ENST00000504248.1_Silent_p.V119V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	119					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.V119V(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACGAGGCTGTGACGCACCTTG	0.592000													4	10					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73069127	73069127	+	RNA	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:73069127G>C	ENST00000429829.1	-	0	3461					NR_001564.2																						AATTGGGACTGAGCATTTTAA	0.453000													9	31					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27182355	27182355	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:27182355G>A	ENST00000335625.5	+	8	1492	c.604G>A	c.(604-606)Gtt>Att	p.V202I	GABRA5_ENST00000355395.5_Missense_Mutation_p.V202I|GABRA5_ENST00000400081.3_Missense_Mutation_p.V202I|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	202					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.V202I(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCTGAAGTCGTTTACGTCTG	0.512000													15	34					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581355	7581355	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr6:7581355G>A	ENST00000379802.3	+	23	5273	c.4932G>A	c.(4930-4932)ctG>ctA	p.L1644L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1644	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.L1644L(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGGCCACCTGAGGGAAAAGC	0.567000													40	19					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109784503	109784503	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr4:109784503C>T	ENST00000399132.1	-	21	1654	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	COL25A1_ENST00000399126.1_Missense_Mutation_p.R375Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.R371Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	375	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.R375Q(3)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGTTCCCCTCGCTCACCTCT	0.493000													8	16					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186023068	186023068	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:186023068C>T	ENST00000271588.4	+	44	7041	c.6812C>T	c.(6811-6813)gCg>gTg	p.A2271V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A2271V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2271	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A2271V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATGTGTGGCGTCGAATGTT	0.403000													14	67					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096593	51096593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:51096593C>T	ENST00000395542.2	-	12	2630	c.2446G>A	c.(2446-2448)Gac>Aac	p.D816N	COBL_ENST00000265136.7_Missense_Mutation_p.D734N			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	734								p.D734N(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCAGCTCGTCAATCTTAATG	0.507000													14	30					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980651	44980651	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:44980651G>C	ENST00000221327.4	-	5	2328	c.2047C>G	c.(2047-2049)Cat>Gat	p.H683D	ZNF180_ENST00000391956.4_Missense_Mutation_p.H658D|ZNF180_ENST00000592529.1_Missense_Mutation_p.H656D	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H683D(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCTTCAGTATGAGTTGCCTGA	0.313000													26	67					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231135347	231135347	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:231135347G>A	ENST00000392045.3	+	15	1605	c.1491G>A	c.(1489-1491)agG>agA	p.R497R	SP140_ENST00000343805.6_Silent_p.R437R|SP140_ENST00000350136.5_Silent_p.R366R|SP140_ENST00000486687.2_Silent_p.R421R|SP140_ENST00000417495.3_Silent_p.R383R|SP140_ENST00000420434.3_Silent_p.R470R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	497					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R497R(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACCCAAGAGGAAAAGAAGTA	0.284000													5	26					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216672	170216672	+	Splice_Site	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:170216672C>A	ENST00000231706.4	-	4	858	c.541_splice	c.e4-1	p.G181_splice	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	181						integral to membrane	amino acid transmembrane transporter activity	p.G181G(3)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTCACCTTTCCCTAGAGAGG	0.488000													13	12					9.31168e-06	9.78316e-06	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026921	182026921	+	Silent	SNP	G	G	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:182026921G>T	ENST00000339948.3	-	2	432	c.225C>A	c.(223-225)ggC>ggA	p.G75G		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G75G(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTTCCTCTTTGCCCAGTGGAT	0.567000													19	44					6.49762e-13	7.09608e-13	1	1	0
DYSF	8291	broad.mit.edu	37	2	71901354	71901354	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:71901354G>A	ENST00000258104.3	+	51	5972	c.5695G>A	c.(5695-5697)Gag>Aag	p.E1899K	DYSF_ENST00000409762.1_Missense_Mutation_p.E1916K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1930K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1937K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1917K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1921K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1900K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1931K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1907K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1920K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1938K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1899						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.E1899K(1)|p.E1938K(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGACAAGACTGAGAGCAAAAT	0.502000													16	24					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961679	41961679	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:41961679C>G	ENST00000219905.7	+	2	768	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MGA_ENST00000566586.1_Missense_Mutation_p.S196C|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.S196C|MGA_ENST00000545763.1_Missense_Mutation_p.S196C|MGA_ENST00000570161.1_Missense_Mutation_p.S196C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	196						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S196C(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATCTTGCACTCTATGCATCGT	0.448000													51	95					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151089832	151089832	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr6:151089832C>T	ENST00000367328.1	+	4	782	c.470C>T	c.(469-471)tCa>tTa	p.S157L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S157L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	157	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S157L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAGAAAGATCAGCCCTTTTT	0.393000													3	20					0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35739633	35739633	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:35739633A>G	ENST00000557565.1	+	7	1832	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	KIAA0391_ENST00000534898.4_Missense_Mutation_p.Y484C|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Y468C|KIAA0391_ENST00000604948.1_Missense_Mutation_p.Y389C|KIAA0391_ENST00000605870.1_Missense_Mutation_p.Y112C|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Y468C|KIAA0391_ENST00000250377.7_Missense_Mutation_p.Y389C			O15091	MRRP3_HUMAN	KIAA0391	484					tRNA processing	mitochondrion		p.Y484C(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TTCCTTCTGTATGCCACACTG	0.512000													19	46					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101245	80101245	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:80101245G>A	ENST00000466387.1	+	10	1353	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R244Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R210Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R210Q			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	210					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R210Q(2)|p.R210L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGCCGCCCGAGGGGCTCTG	0.512000													13	38					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89743067	89743067	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:89743067C>G	ENST00000279488.7	-	3	2341	c.1110G>C	c.(1108-1110)caG>caC	p.Q370H	DUSP6_ENST00000308385.6_Missense_Mutation_p.Q224H|DUSP6_ENST00000547291.1_Missense_Mutation_p.Q245H	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	370	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Q370H(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGTATACATTCTGGTTGGAAG	0.547000													30	56					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868453	201868453	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:201868453C>G	ENST00000367288.4	-	2	1934	c.1688G>C	c.(1687-1689)gGa>gCa	p.G563A	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	563					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	p.G563A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACTTTGTCTCCCATCTTCCT	0.567000													6	5					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558864	129558864	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:129558864G>C	ENST00000422113.2	-	9	3182	c.2856C>G	c.(2854-2856)ttC>ttG	p.F952L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.F490L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	952						integral to membrane		p.F952L(1)		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)		CCTGCTCCTCGAAGGGAACCT	0.463000													32	59					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165584560	165584560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:165584560G>A	ENST00000375458.2	-	4	801	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q247*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q232*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.Q232*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q194*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	232								p.Q194*(1)|p.Q194E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTGCGATTGATAATCTTTC	0.393000													34	50					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134880	27134880	+	Splice_Site	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr7:27134880C>A	ENST00000343060.4	-	1	713	c.652_splice	c.e1+1	p.G218_splice	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	218						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G218W(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGGACTGACCTGTTTTGGGA	0.463000													9	18					0.000673444	0.000694358	1	1	0
HDAC7	51564	broad.mit.edu	37	12	48179570	48179570	+	Missense_Mutation	SNP	A	A	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:48179570A>G	ENST00000080059.7	-	23	2670	c.2671T>C	c.(2671-2673)Tct>Cct	p.S891P	HDAC7_ENST00000380610.4_Missense_Mutation_p.S908P|HDAC7_ENST00000354334.3_Missense_Mutation_p.S854P|HDAC7_ENST00000427332.2_Missense_Mutation_p.S852P|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.S874P	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	852	Interaction with SIN3A (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	p.S852P(1)		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)		CAGGCCTCAGAGGCGTCACAG	0.602000													3	4					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42040834	42040834	+	Splice_Site	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:42040834G>A	ENST00000219905.7	+	16	5393		c.e16-1		MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000545763.1_Splice_Site|MGA_ENST00000570161.1_Splice_Site	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein							MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGTTTTTCAGAAAATGCTGC	0.408000													4	9					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55439826	55439826	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:55439826G>C	ENST00000401408.1	-	5	827	c.482C>G	c.(481-483)cCt>cGt	p.P161R	CLHC1_ENST00000406076.1_Missense_Mutation_p.P39R|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.P161R	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1									p.P161R(2)									AGGTTTTGAAGGATCTTTGGA	0.313000													12	31					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543728	154543728	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:154543728C>T	ENST00000368476.3	+	5	693	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	143					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I143I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ATGGCAGCATCTTCTGGCTGC	0.537000													31	119					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163134108	163134108	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr2:163134108C>G	ENST00000263642.2	-	10	2256	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	621					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.D621H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GTATACGCATCTATCATTCGA	0.373000													24	44					0	0	1	0	0
HAGHL	84264	broad.mit.edu	37	16	777579	777579	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr16:777579G>A	ENST00000549114.1	+	2	373	c.70G>A	c.(70-72)Gag>Aag	p.E24K	HAGHL_ENST00000389703.3_Missense_Mutation_p.E24K|HAGHL_ENST00000561546.1_Missense_Mutation_p.E24K|HAGHL_ENST00000564537.1_Missense_Mutation_p.E24K|HAGHL_ENST00000564545.1_Missense_Mutation_p.E24K|HAGHL_ENST00000341413.4_Missense_Mutation_p.E24K			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	24							hydrolase activity|metal ion binding	p.E24K(1)		lung(3)	3		Hepatocellular(780;0.00335)				GCTCACGCGCGAGGCGGTGGC	0.701000													4	15					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188187	7188187	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:7188187C>G	ENST00000542285.1	-	11	1760	c.1611G>C	c.(1609-1611)ttG>ttC	p.L537F				P00736	C1R_HUMAN	complement component 1, r subcomponent	589	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.L552F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATAGCCCATCAAGCCCAGGT	0.567000													8	23					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008388	11008388	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:11008388C>T	ENST00000377004.4	-	12	1803	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	C1orf127_ENST00000377008.4_Missense_Mutation_p.E435K	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	453								p.E435K(1)|p.E602K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACCAGCTCCTCTGCAGCCAGT	0.672000													17	35					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303180	151303180	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:151303180C>T	ENST00000370323.4	-	4	1229	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E305K|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	305	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTAATTTCAGCATGAGCC	0.502000													7	179					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19940970	19940970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:19940970C>A	ENST00000295824.9	-	7	1617	c.1456G>T	c.(1456-1458)Gat>Tat	p.D486Y	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.D356Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	486					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.D484Y(1)|p.D486Y(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTTTGAAATCATCTGCTCTT	0.294000													21	12					1.22574e-08	1.32125e-08	1	1	0
NKX2-1	7080	broad.mit.edu	37	14	36988447	36988447	+	Missense_Mutation	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:36988447G>A	ENST00000518149.1	-	2	721	c.116C>T	c.(115-117)gCg>gTg	p.A39V	NKX2-1_ENST00000354822.5_Missense_Mutation_p.A69V|NKX2-1_ENST00000498187.2_Missense_Mutation_p.A39V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A39V			P43699	NKX21_HUMAN	NK2 homeobox 1	39					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	p.A39V(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGTACGCCGCCAGCGGAGC	0.682000			A		NSCLC								9	26					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7759700	7759700	+	Silent	SNP	C	C	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr10:7759700C>A	ENST00000358415.4	+	6	745	c.579C>A	c.(577-579)tcC>tcA	p.S193S	ITIH2_ENST00000379587.4_Silent_p.S182S|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	193					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.S193S(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCTGGGCTCCTATGAGCACA	0.498000													3	51					0.004672	0.00470032	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	31					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285020	152285020	+	Missense_Mutation	SNP	T	T	C	rs138055273	byFrequency	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:152285020T>C	ENST00000368799.1	-	3	2377	c.2342A>G	c.(2341-2343)gAc>gGc	p.D781G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	781	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D781G(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGACCGGTCACGTGCGGA	0.562000									Ichthyosis				101	364					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3381997	3381997	+	Silent	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:3381997C>G	ENST00000589123.1	+	2	411	c.291C>G	c.(289-291)ctC>ctG	p.L97L	NFIC_ENST00000346156.5_Silent_p.L97L|NFIC_ENST00000395111.3_Silent_p.L97L|NFIC_ENST00000586919.1_Silent_p.L97L|NFIC_ENST00000341919.3_Silent_p.L106L|NFIC_ENST00000590282.1_Silent_p.L106L|NFIC_ENST00000443272.2_Silent_p.L106L	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	106					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L97L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCTGCGTGCTCTCCAACCCCG	0.667000													42	53					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67807182	67807182	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:67807182C>T	ENST00000216442.7	-	8	1127	c.577G>A	c.(577-579)Gag>Aag	p.E193K	ATP6V1D_ENST00000555431.1_Missense_Mutation_p.E138K|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.M170I|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E94K	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	193					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	p.E193K(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		CGCTCTCTCTCATCCAGCTCT	0.358000													19	36					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788871	117788871	+	Missense_Mutation	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chrX:117788871C>T	ENST00000276204.6	+	44	4990	c.4916C>T	c.(4915-4917)gCg>gTg	p.A1639V	DOCK11_ENST00000276202.7_Missense_Mutation_p.A1639V			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1639	DHR-2.				blood coagulation	cytosol	GTP binding	p.A1639V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTCAGGCTGCGATGTGTTAT	0.378000													43	76					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44124206	44124206	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr12:44124206C>T	ENST00000416848.2	-	9	2567	c.2079G>A	c.(2077-2079)ctG>ctA	p.L693L	PUS7L_ENST00000551923.1_Silent_p.L693L|PUS7L_ENST00000344862.5_Silent_p.L693L|PUS7L_ENST00000431332.3_Silent_p.L380L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	693					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.L693L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTATTTCCTTCAGACAAACGG	0.373000													15	34					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48584552	48584552	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr18:48584552C>G	ENST00000342988.3	+	6	1263	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	242					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.S242*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGATAGCATCAGGGCCTCAG	0.433000													14	8					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	42984468	42984468	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr20:42984468C>T	ENST00000457232.1	+	1	28	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	156					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.L8L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCGCCCCTCGGGGCTCCAG	0.682000													20	9					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124619682	124619682	+	Missense_Mutation	SNP	C	C	T	rs114520645	by1000genomes	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:124619682C>T	ENST00000403470.1	-	4	563	c.508G>A	c.(508-510)Gag>Aag	p.E170K	VSIG2_ENST00000326621.5_Missense_Mutation_p.E170K			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	170	Ig-like C2-type.					integral to plasma membrane|membrane fraction		p.E170K(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GGAGCCCCCTCGGAAGAGCTG	0.512000													15	46					0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88677025	88677025	+	Silent	SNP	C	C	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr10:88677025C>T	ENST00000372037.2	+	9	1347	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	270	Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	p.S270S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGAAGCCAGCTGGTTTCGAG	0.448000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				4	6					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123670659	123670659	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr10:123670659G>A	ENST00000369043.3	-	5	431	c.345C>T	c.(343-345)ccC>ccT	p.P115P	ATE1_ENST00000224652.6_Silent_p.P115P|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369040.3_Silent_p.P19P|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Silent_p.P108P	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	115					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	p.P115P(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAATCCATGGGCTCATCTA	0.358000													27	21					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707234	6707234	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:6707234C>G	ENST00000245907.6	-	17	2190	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	700	Anaphylatoxin-like.			E -> Q (in Ref. 5; AA sequence).	complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.E700Q(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGGGGTTCTCCCGCATGCCG	0.652000													8	12					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924444	24924444	+	Missense_Mutation	SNP	G	G	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr15:24924444G>C	ENST00000329468.2	+	1	3904	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.E1144Q(1)									CTATGGACAAGAAACATATGT	0.448000													25	57					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	29					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311305	150311305	+	RNA	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr5:150311305C>G	ENST00000520773.1	-	0	2016																											TTTCCACATTCAACACATACA	0.353000													4	7					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47431696	47431696	+	Silent	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:47431696C>G	ENST00000524928.1	+	1	61	c.51C>G	c.(49-51)ctC>ctG	p.L17L	SLC39A13_ENST00000354884.4_Silent_p.L17L|SLC39A13_ENST00000533076.1_Silent_p.L17L|SLC39A13_ENST00000362021.4_Silent_p.L17L|SLC39A13_ENST00000531974.1_Silent_p.L17L			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	17					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L17L(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CAAGGCTCCTCTTCCTCACTG	0.637000													30	75					0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30781559	30781559	+	Missense_Mutation	SNP	C	C	G			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:30781559C>G	ENST00000261712.3	+	3	503	c.240C>G	c.(238-240)atC>atG	p.I80M	PSMD11_ENST00000457654.2_Missense_Mutation_p.I80M	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	80					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.I80M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			TGAATTCCATCAGCAAGGCTA	0.428000													24	68					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150789333	150789333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:150789333delG	ENST00000358595.5	-	18	1933	c.1733delC	c.(1732-1734)ctfs	p.P578fs	ARNT_ENST00000515192.1_Frame_Shift_Del_p.P564fs|ARNT_ENST00000505755.1_Frame_Shift_Del_p.P563fs|ARNT_ENST00000354396.2_Frame_Shift_Del_p.P578fs	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	578					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGGGTGGCAGGGACAGTGCT	0.537			T	ETV6	AML								24	60	---	---	---	---					
FASLG	356	broad.mit.edu	37	1	172633495	172633495	+	Frame_Shift_Del	DEL	A	A	-	rs35774809		TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:172633495delA	ENST00000367721.2	+	3	600	c.416delA	c.(415-417)gafs	p.E139fs	FASLG_ENST00000340030.3_Frame_Shift_Del_p.K125fs	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	139					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CCACCCCCTGAAAAAAAGGAG	0.408													17	55	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237972262	237972263	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr1:237972262_237972263insT	ENST00000366574.2	+	100	14677_14678	c.14360_14361insT	c.(14359-14361)attfs	p.I4787fs	RYR2_ENST00000360064.6_Frame_Shift_Ins_p.I4793fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.I4771fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4787					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.N4785I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGCATTCAATTTTTTCCGAA	0.356													7	336	---	---	---	---					
NFKBIZ	64332	broad.mit.edu	37	3	101571949	101571950	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr3:101571949_101571950insC	ENST00000326172.5	+	5	694_695	c.579_580insC	c.(577-582)accaacfs	p.N194fs	NFKBIZ_ENST00000326151.5_Frame_Shift_Ins_p.N194fs|NFKBIZ_ENST00000394054.2_Frame_Shift_Ins_p.N94fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CACCTCAAACACCAACGCCCGG	0.421													23	16	---	---	---	---					
UBQLN1	29979	broad.mit.edu	37	9	86279969	86279970	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr9:86279969_86279970insT	ENST00000376395.4	-	9	1946_1947	c.1423_1424insA	c.(1423-1425)ggafs	p.G475fs	UBQLN1_ENST00000257468.7_Frame_Shift_Ins_p.G447fs	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	475					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CGGGGCTTCCGTTGCTAATGTC	0.421													13	15	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118363894	118363894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr11:118363894delA	ENST00000534358.1	+	16	5150	c.5127delA	c.(5125-5127)ttfs	p.L1709fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.L1706fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.L1668fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGCAGCCTTTAGATCTAGAAG	0.478													33	58	---	---	---	---					
IGHV4-4	28401	broad.mit.edu	37	14	106478551	106478551	+	RNA	DEL	G	G	-			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr14:106478551delG	ENST00000390596.2	-	0	52																											TTCTTGTGCAGGAGGTCCATG	0.517													3	3	---	---	---	---					
RANGRF	29098	broad.mit.edu	37	17	8192632	8192661	+	In_Frame_Del	DEL	CTGTTCAGCCTCTCAGTTTGGAGAACCTGG	CTGTTCAGCCTCTCAGTTTGGAGAACCTGG	-	rs112961604	byFrequency	TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:8192632_8192661delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG	ENST00000439238.3	+	3	362_391	c.251_280delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG	c.(250-282)tcc>t	p.SVQPLSLENLA84del	RANGRF_ENST00000226105.6_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000580340.1_3'UTR|RANGRF_ENST00000580434.1_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000407006.4_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron			Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	84					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CATGTGGAGTCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCCCTGAGGGG	0.591													10	76	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-05-5715-01A-01D-1625-08	TCGA-05-5715-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fda17b-1de0-4b7e-bd28-a6793bc36d37	1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			11	72	---	---	---	---					
