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
HIVEP3	59269	broad.mit.edu	37	1	42048045	42048045	+	Silent	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:42048045T>C	ENST00000372584.1	-	3	3438	c.2424A>G	c.(2422-2424)aaA>aaG	p.K808K	HIVEP3_ENST00000372583.1_Silent_p.K808K|HIVEP3_ENST00000247584.5_Silent_p.K808K|HIVEP3_ENST00000429157.2_Silent_p.K808K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	808	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAATCAGATTTCTCAAAGG	0.557000													4	88					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20463041	20463041	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20463041T>C	ENST00000361078.2	-	13	2160	c.2138A>G	c.(2137-2139)gAt>gGt	p.D713G	PUM2_ENST00000319801.5_Missense_Mutation_p.D634G|PUM2_ENST00000338086.5_Missense_Mutation_p.D713G|PUM2_ENST00000403432.1_Missense_Mutation_p.D713G|PUM2_ENST00000536417.1_Missense_Mutation_p.D657G			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	713	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTCTGAAATCTTCCAATAA	0.443000													8	40					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44512067	44512067	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:44512067T>C	ENST00000372523.1	+	2	931	c.836T>C	c.(835-837)aTg>aCg	p.M279T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.M279T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	279							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAACAAGGTATGGCTTCTCTG	0.537000													4	139					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:39922163C>A	ENST00000342274.4	-	9	4269	c.3907G>T	c.(3907-3909)Gaa>Taa	p.E1303*	BCOR_ENST00000378463.1_Nonsense_Mutation_p.E180*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1303*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1285*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1337*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	6					8.12818e-05	9.21194e-05	1	1	0
SLC52A3	113278	broad.mit.edu	37	20	745919	745919	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr20:745919A>G	ENST00000381944.3	-	2	741	c.500T>C	c.(499-501)gTc>gCc	p.V167A	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.V167A			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	167					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGTGACATTGACGCAGGTAGT	0.597000													15	70					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874061	144874061	+	Silent	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144874061G>C	ENST00000356994.2	-	34	4686	c.4680C>G	c.(4678-4680)acC>acG	p.T1560T	SCRIB_ENST00000320476.3_Silent_p.T1560T|SCRIB_ENST00000377533.3_Silent_p.T1479T	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1560					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTCCCGGGGAGGTGCTGGTCT	0.716000													3	11					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338854	151338854	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:151338854C>A	ENST00000435071.1	-	7	1010	c.548G>T	c.(547-549)gGg>gTg	p.G183V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.G185V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.G247V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.G289V			Q13228	SBP1_HUMAN	selenium binding protein 1	247					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAATAAGCCCATCTTTTAG	0.577000													14	169					4.36969e-10	5.30605e-10	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197421354	197421354	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:197421354C>T	ENST00000273582.5	-	11	1986	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	KIAA0226_ENST00000389665.5_Missense_Mutation_p.E526K|KIAA0226_ENST00000296343.5_Missense_Mutation_p.E526K	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	526					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTGTCTTCCTCTTCCACT	0.532000													5	108					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144413450	144413450	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:144413450G>A	ENST00000329245.4	-	2	216	c.182C>T	c.(181-183)cCg>cTg	p.P61L	TOP1MT_ENST00000523676.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	61					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCGAAGTACGGGCCCTTGTG	0.612000													5	77					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10904502	10904502	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10904502C>T	ENST00000314646.5	+	8	1263	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	DNM2_ENST00000389253.4_Missense_Mutation_p.H367Y|DNM2_ENST00000408974.4_Missense_Mutation_p.H367Y|DNM2_ENST00000355667.6_Missense_Mutation_p.H367Y|DNM2_ENST00000359692.6_Missense_Mutation_p.H367Y|DNM2_ENST00000585892.1_Missense_Mutation_p.H367Y			P50570	DYN2_HUMAN	dynamin 2	367					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGCATCTTCCACGAGCGGTT	0.632000			"""F, N, Splice, Mis, O"""		ETP ALL								4	116					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5134849	5134849	+	Silent	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:5134849G>A	ENST00000588623.1	+	14	2129	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	FAM86A_ENST00000458008.4_3'UTR|FAM86A_ENST00000427587.4_3'UTR|ALG1_ENST00000262374.5_Silent_p.V454V|ALG1_ENST00000544428.1_Silent_p.V343V			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	454					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGAGCTGGGTGCAGACTGTGC	0.557000													15	39					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40282554	40282554	+	Silent	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:40282554C>T	ENST00000547517.1	-	3	366	c.66G>A	c.(64-66)ccG>ccA	p.P22P	CTD-2132N18.3_ENST00000592574.1_5'UTR|RAB5C_ENST00000393860.3_5'UTR|RAB5C_ENST00000346213.4_5'UTR	NM_001252039.1	NP_001238968.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGAGAGCGTGCGGGTGGGGAC	0.572000													3	23					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172502587	172502587	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:172502587T>A	ENST00000417960.1	+	17	2200	c.1723T>A	c.(1723-1725)Tta>Ata	p.L575I	ECT2_ENST00000232458.5_Missense_Mutation_p.L576I|ECT2_ENST00000540509.1_Missense_Mutation_p.L607I|ECT2_ENST00000427830.1_Missense_Mutation_p.L576I|ECT2_ENST00000441497.2_Missense_Mutation_p.L576I|ECT2_ENST00000392692.3_Missense_Mutation_p.L607I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	576	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGCATTACTTTTAAATGGTAC	0.343000													10	95					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585646	7585646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:7585646G>A	ENST00000379802.3	+	24	8492	c.8151G>A	c.(8149-8151)tgG>tgA	p.W2717*	DSP_ENST00000418664.2_Nonsense_Mutation_p.W2118*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2717	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			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)		AAGAAAAATGGCTCCCGTATG	0.552000													12	206					0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36394716	36394716	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:36394716C>T	ENST00000246551.4	+	3	266	c.152C>T	c.(151-153)gCa>gTa	p.A51V	HCST_ENST00000437550.2_Missense_Mutation_p.A51V			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	51					regulation of immune response	integral to membrane|plasma membrane				lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGCTCCTGGCAGGCCTCGTG	0.687000													8	36					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136700980	136700980	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:136700980T>C	ENST00000264161.4	-	5	606	c.391A>G	c.(391-393)Aca>Gca	p.T131A	DARS_ENST00000537273.1_Missense_Mutation_p.T31A|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	131					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TCTTGCTGTGTACAGCTTCCA	0.333000													5	139					0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719560	74719560	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:74719560G>A	ENST00000226524.3	+	2	335	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	54					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCCCAGGTCCGTCCCAGGCAC	0.612000													6	38					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68030560	68030560	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:68030560A>G	ENST00000262210.5	+	12	1590	c.1559A>G	c.(1558-1560)tAt>tGt	p.Y520C	CSPP1_ENST00000412460.1_Missense_Mutation_p.Y226C	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	555	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATGCATACTATTTTTATGGG	0.408000													5	120					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547492	165547492	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:165547492C>A	ENST00000264381.3	-	2	1496	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	444					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TAGAAAAAGGCATTATTTCCC	0.428000													6	91					0.0293803	0.0302707	1	1	0
MYOZ2	51778	broad.mit.edu	37	4	120072131	120072131	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr4:120072131C>T	ENST00000307128.5	+	3	394	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	61							protein phosphatase 2B binding	p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTTAAGATGCGTCAAAGAAG	0.398000													8	74					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221354	63221354	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:63221354C>T	ENST00000449996.3	+	18	1705	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	RGS9_ENST00000262406.9_Missense_Mutation_p.P548S|RGS9_ENST00000443584.3_Missense_Mutation_p.P545S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	548				GSMAPR -> WSGANP (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GTCCATGGCCCCCCGTGGGCC	0.697000													6	151					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102584658	102584658	+	Splice_Site	SNP	C	C	T	rs149961330		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:102584658C>T	ENST00000339431.4	+	4	1225	c.928_splice	c.e4-1	p.A310_splice	LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000313221.4_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	310					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTTTCCAGCCGCTTTTTTAG	0.313000													7	96					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444817	63444817	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:63444817C>G	ENST00000453546.1	-	10	1928	c.1839G>C	c.(1837-1839)gaG>gaC	p.E613D	ASB12_ENST00000396130.2_Missense_Mutation_p.E229D|ASB12_ENST00000362002.2_Missense_Mutation_p.E238D			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GCTGGATATACTCTGGCTCAC	0.488000													10	19					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975299	106975299	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:106975299A>G	ENST00000369066.3	+	5	3795	c.3308A>G	c.(3307-3309)gAg>gGg	p.E1103G		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1103	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAAGAAGCAGAGTCTGATAAG	0.408000													6	224					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71003048	71003048	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:71003048G>A	ENST00000354624.5	+	7	935	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	HKDC1_ENST00000395086.2_Missense_Mutation_p.G268R	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	268					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGGGACGACGGGGCCCTGGA	0.587000													5	105					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7407048	7407048	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7407048C>T	ENST00000322644.6	+	19	3577	c.3178C>T	c.(3178-3180)Ctc>Ttc	p.L1060F		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1060					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGAGTTTCGGCTCAGTGGGGA	0.557000													3	20					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240504	39240504	+	Missense_Mutation	SNP	A	A	G	rs11655310	by1000genomes	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:39240504A>G	ENST00000391417.4	+	1	46	c.46A>G	c.(46-48)Agc>Ggc	p.S16G		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S16G(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCAGGGCTGCAGCCAAGACCT	0.607000													4	53					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20132099	20132099	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:20132099A>G	ENST00000345530.3	-	24	2916	c.2801T>C	c.(2800-2802)aTa>aCa	p.I934T	WDR35_ENST00000281405.4_Missense_Mutation_p.I923T|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	934										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGAGTTCTATGGCATCAAG	0.333000													5	84					0	0	1	0	0
IGHG2	0	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													4	130					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695278	7695278	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr17:7695278T>A	ENST00000572933.1	+	45	8404	c.6944T>A	c.(6943-6945)aTg>aAg	p.M2315K	DNAH2_ENST00000389173.2_Missense_Mutation_p.M2315K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATGGTAGAGATGACATTTGTG	0.532000													18	120					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53432827	53432827	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:53432827T>C	ENST00000322213.4	-	10	1734	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	SMC1A_ENST00000375340.6_Missense_Mutation_p.K302R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	536	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCCCAAAACCTTGGTTACAGC	0.488000													4	26					0	0	1	0	0
ZNF605	100289635	broad.mit.edu	37	12	133502381	133502381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:133502381C>A	ENST00000360187.4	-	5	1852	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	ZNF605_ENST00000392321.3_Nonsense_Mutation_p.E533*	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		AAGGGCTTTTCTCCAGTATGG	0.433000													5	31					0.00448238	0.00468926	1	1	0
ARHGAP4	393	broad.mit.edu	37	X	153186148	153186148	+	Missense_Mutation	SNP	C	C	A	rs147143769	byFrequency	TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chrX:153186148C>A	ENST00000370028.3	-	5	670	c.613G>T	c.(613-615)Gct>Tct	p.A205S	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A182S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A205S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A184S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	205					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCACCAGCGGTGGTGGTG	0.682000													8	24					0.0381472	0.0387166	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018761	14018761	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:14018761C>T	ENST00000279593.3	-	2	591	c.382G>A	c.(382-384)Ggg>Agg	p.G128R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	128					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGGAGCCCCCGTGGATGCCC	0.537000													12	210					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300004	62300004	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:62300004G>A	ENST00000378024.4	-	5	2159	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	629					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCATCTTGGGCATTTTCAGG	0.507000													14	118					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122478	46122478	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr10:46122478G>A	ENST00000374366.3	-	8	1036	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R265C|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	265							zinc ion binding										AATCGGTGGCGAGATGGTGCA	0.463000													4	88					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324844	72324844	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr15:72324844G>A	ENST00000356056.5	-	3	1398	c.926C>T	c.(925-927)aCt>aTt	p.T309I	MYO9A_ENST00000444904.1_Missense_Mutation_p.T309I|MYO9A_ENST00000424560.1_Missense_Mutation_p.T309I|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.T309I|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	309	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCAAGTACAGTGCCTGTTTC	0.358000													4	45					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237680	56237680	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:56237680C>A	ENST00000312240.2	-	1	334	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGAAGAAACACTGTACTAAAC	0.368000													9	119					2.17888e-05	2.55455e-05	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73789474	73789474	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:73789474T>C	ENST00000334126.7	-	23	4515	c.4289A>G	c.(4288-4290)cAt>cGt	p.H1430R	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1430R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1430						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTATTCTTATGAATGTGGTT	0.478000													8	40					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:90161571A>G	ENST00000567960.1	+	0	307				TUBB8P7_ENST00000564451.1_RNA																							CAACTGGGCCAAGGGACGCTA	0.577000													3	37					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478662	128478662	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:128478662G>T	ENST00000325888.8	+	8	1477	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C	FLNC_ENST00000346177.6_Missense_Mutation_p.G406C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	406					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCAGGGGCCGGCACTGGCGA	0.667000													6	155					0.000157383	0.000172614	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36780118	36780118	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr8:36780118G>A	ENST00000399881.3	+	24	2744	c.2707G>A	c.(2707-2709)Ggc>Agc	p.G903S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	903	Segment S10.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTTTTTTCCGGCAGCTTCTT	0.493000													3	43					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77763407	77763407	+	Silent	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:77763407C>A	ENST00000344720.5	+	4	1527	c.501C>A	c.(499-501)gcC>gcA	p.A167A	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Silent_p.A193A	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	193					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGAATTGGCCCCACAGGTAC	0.358000													7	78					0.000157383	0.000172614	1	1	0
MYADM	91663	broad.mit.edu	37	19	54377258	54377258	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:54377258C>T	ENST00000391769.2	+	3	755	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	MYADM_ENST00000391768.2_Missense_Mutation_p.R159W|MYADM_ENST00000391770.4_Missense_Mutation_p.R159W|MYADM_ENST00000391771.1_Missense_Mutation_p.R159W|MYADM_ENST00000336967.3_Missense_Mutation_p.R159W	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	159	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCTGGACCCGGGCCCGGCC	0.652000													4	73					0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102798009	102798009	+	Silent	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:102798009T>C	ENST00000262236.5	+	3	1249	c.894T>C	c.(892-894)aaT>aaC	p.N298N	ZNF839_ENST00000559185.1_Silent_p.N298N|ZNF839_ENST00000558850.1_Silent_p.N298N|ZNF839_ENST00000442396.2_Silent_p.N414N	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	298						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACCAGAAAATGGAGCTCTTT	0.463000													3	18					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200861	123200861	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:123200861A>G	ENST00000528880.2	-	1	578	c.424T>C	c.(424-426)Tgg>Cgg	p.W142R	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	142						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GCTGCTGTCCAATTGGAGATC	0.542000													4	111					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96555250	96555250	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr13:96555250T>G	ENST00000376747.3	-	21	2430	c.2360A>C	c.(2359-2361)aAc>aCc	p.N787T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	787					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATAGCTGTGTTCTCTTCATT	0.338000													7	56					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358390	112358390	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr3:112358390C>A	ENST00000206423.3	-	2	1316	c.363G>T	c.(361-363)gaG>gaT	p.E121D	CCDC80_ENST00000439685.2_Missense_Mutation_p.E121D|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	121										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGAGGACCCCTCATCTCTGA	0.592000													4	109					0.00024832	0.000268028	1	1	0
AGPAT2	10555	broad.mit.edu	37	9	139571468	139571468	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr9:139571468G>C	ENST00000371696.2	-	3	502	c.437C>G	c.(436-438)tCt>tGt	p.S146C	AGPAT2_ENST00000371694.3_Missense_Mutation_p.S146C|AGPAT2_ENST00000538402.1_Missense_Mutation_p.S146C	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	146					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGCAGTGCTAGAGCGCTGCCG	0.672000													18	125					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7049134	7049134	+	Silent	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr18:7049134A>G	ENST00000389658.3	-	5	804	c.711T>C	c.(709-711)gaT>gaC	p.D237D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	237	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTCATGAGATCTGCATTGA	0.468000													11	93					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098189	144098189	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:144098189G>C	ENST00000467773.1	-	4	793	c.794C>G	c.(793-795)cCg>cGg	p.P265R	NOBOX_ENST00000223140.5_Missense_Mutation_p.P180R|NOBOX_ENST00000483238.1_Missense_Mutation_p.P265R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	265					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGTCACTTCCGGGGGCCCCTG	0.577000													8	32					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269981	67269981	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:67269981C>A	ENST00000356404.3	-	3	512	c.287G>T	c.(286-288)cGa>cTa	p.R96L	PITPNM1_ENST00000534749.1_Missense_Mutation_p.R96L|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R96L	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	96					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCACCGGGTTCGGGTGTAGGG	0.657000													3	57					0.115264	0.115264	1	1	0
IGHV1-24	0	broad.mit.edu	37	14	106733354	106733354	+	RNA	SNP	G	G	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr14:106733354G>T	ENST00000390610.2	-	0	200																											ATTCAGTGAGGGTGTATCCGG	0.562000													56	203					1.57914e-17	1.9524e-17	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	52					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923735	54923735	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr5:54923735T>C	ENST00000396865.2	-	15	2095	c.1504A>G	c.(1504-1506)Ata>Gta	p.I502V	SLC38A9_ENST00000416547.2_Missense_Mutation_p.I378V|SLC38A9_ENST00000512595.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Missense_Mutation_p.I439V|SLC38A9_ENST00000318672.3_Missense_Mutation_p.I502V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	502					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATCCCTCCTATGTTTGGGTAG	0.388000													7	62					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452460	6452460	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr11:6452460A>T	ENST00000265983.3	-	10	1470	c.1370T>A	c.(1369-1371)cTc>cAc	p.L457H		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	457					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGCCCAGGAGACTGGTCAC	0.527000													6	52					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767589	41767589	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr6:41767589C>A	ENST00000394253.3	-	5	1978	c.1649G>T	c.(1648-1650)cGg>cTg	p.R550L	USP49_ENST00000373006.1_Missense_Mutation_p.R550L|USP49_ENST00000373010.1_Missense_Mutation_p.R550L|USP49_ENST00000297229.2_Missense_Mutation_p.R550L|USP49_ENST00000373009.3_Missense_Mutation_p.R550L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	550					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AAGGTGCAGCCGGAGAACCTG	0.498000													6	87					8.12818e-05	9.21194e-05	1	1	0
CBR1	873	broad.mit.edu	37	21	37445106	37445106	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr21:37445106T>G	ENST00000290349.6	+	3	935	c.760T>G	c.(760-762)Ttg>Gtg	p.L254V	SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	254					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	CCCTGTGTACTTGGCCCTTTT	0.577000													26	24					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476512	10476512	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr19:10476512C>A	ENST00000525621.1	-	7	1173	c.692G>T	c.(691-693)cGg>cTg	p.R231L	TYK2_ENST00000524462.1_Missense_Mutation_p.R46L|TYK2_ENST00000264818.6_Missense_Mutation_p.R231L|TYK2_ENST00000529370.1_Missense_Mutation_p.R231L	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	231	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R231Q(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AAGGCGCAGCCGGGTCAGGGC	0.647000													6	25					0.00116845	0.00124147	1	1	0
DGCR14	8220	broad.mit.edu	37	22	19125807	19125807	+	Silent	SNP	G	G	A			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19125807G>A	ENST00000252137.6	-	7	889	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	282					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCTTGCCATCGGGGCCCACCT	0.637000													4	24					0	0	1	0	0
RPA2	6118	broad.mit.edu	37	1	28233710	28233710	+	Silent	SNP	C	C	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr1:28233710C>G	ENST00000373912.3	-	3	500	c.201G>C	c.(199-201)ggG>ggC	p.G67G	RPA2_ENST00000313433.7_Silent_p.G155G|RPA2_ENST00000373909.3_Silent_p.G75G	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	67					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAACATTCCCAATTCTGA	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)					11	187					0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19708122	19708122	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr22:19708122A>G	ENST00000438754.2	+	6	855	c.575A>G	c.(574-576)aAc>aGc	p.N192S	SEPT5_ENST00000406395.1_Missense_Mutation_p.N183S|SEPT5_ENST00000383045.3_Missense_Mutation_p.N192S|SEPT5_ENST00000455784.2_Missense_Mutation_p.N183S	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	183					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAAGGTCAACATCGTGCCT	0.612000													16	48					0	0	1	0	0
MZT2A	653784	broad.mit.edu	37	2	132249917	132249917	+	Frame_Shift_Del	DEL	C	C	-	rs72262008		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr2:132249917delC	ENST00000309451.6	-	1	78	c.33delG	c.(31-33)ggfs	p.G11fs	MZT2A_ENST00000410036.2_Intron	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	11						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						gcgccgccgaccccggcccAG	0.776													2	4	---	---	---	---					
LINC00475	0	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs58003635		TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr9:94904432delG	ENST00000416438.2	+	0	184					NR_027341.1																						GGCCTTCTTTGGGGGGGGGGT	0.612													3	6	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67699720	67699721	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67699720_67699721delTT	ENST00000545606.1	+	10	2709_2710	c.2272_2273delTT	c.(2272-2274)tfs	p.F759fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	759					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			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)		CATGCTAGACTTTTTCCAAGCT	0.441													53	96	---	---	---	---					
CAND1	55832	broad.mit.edu	37	12	67700155	67700155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr12:67700155delC	ENST00000545606.1	+	10	3144	c.2707delC	c.(2707-2709)ccfs	p.P903fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	903					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			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)		AACTAGTCAACCCAAAAGGCA	0.413													7	57	---	---	---	---					
CYBA	1535	broad.mit.edu	37	16	88709931	88709932	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EL-A4K7-01A-11D-A257-08	TCGA-EL-A4K7-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74c5e9e9-14ff-4fa6-aff3-1f02ca2c48cf	fa333abe-345c-4465-8f45-eec6c6ec9c6a	g.chr16:88709931_88709932delCC	ENST00000261623.3	-	6	555_556	c.417_418delGG	c.(415-420)cgagfs	p.RE139fs		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	139	Pro-rich.				cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGCGGCCGCTCCCGGGGCTTGG	0.762													2	4	---	---	---	---