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
DHX8	1659	broad.mit.edu	37	17	41577392	41577392	+	Silent	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr17:41577392C>G	ENST00000262415.3	+	11	1539	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DHX8_ENST00000540306.1_Silent_p.L489L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	489						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCGGGAACTCAAACAGGCCC	0.532000													116	194					0	0	0.00361006	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	25					0	0	0.00024832	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													3	94					0	0	0.000602214	0	0
THPO	7066	broad.mit.edu	37	3	184093689	184093689	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:184093689A>C	ENST00000204615.7	-	3	342	c.128T>G	c.(127-129)cTt>cGt	p.L43R	THPO_ENST00000445696.2_Missense_Mutation_p.L43R|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.L43R	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	43					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCTGTGAAGGACATGGGA	0.527000													36	91					0	0	0.00195071	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105961348	105961348	+	Silent	SNP	A	A	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr11:105961348A>G	ENST00000278618.4	+	3	696	c.474A>G	c.(472-474)gaA>gaG	p.E158E	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	158					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AAGAATGGGAAACAATCAGAA	0.303000													3	116					0	0	6.4e-05	0	0
STAG1	10274	broad.mit.edu	37	3	136162169	136162169	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr3:136162169C>G	ENST00000383202.2	-	15	1762	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	STAG1_ENST00000434713.2_Missense_Mutation_p.M276I|STAG1_ENST00000536929.1_Missense_Mutation_p.M86I|STAG1_ENST00000236698.5_Missense_Mutation_p.M502I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	502					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GCAACTCTGTCATACATTCCC	0.358000													7	95					0	0	0.00307968	0	0
SPTA1	6708	broad.mit.edu	37	1	158582606	158582606	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr1:158582606C>T	ENST00000368148.3	-	51	7315		c.e51+1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGAATCGGACCTGCTTCATG	0.458000													5	100					0	0	0.00307968	0	0
ANKRD19P	0	broad.mit.edu	37	9	95599903	95599903	+	RNA	SNP	G	G	A			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr9:95599903G>A	ENST00000473204.1	+	0	1984																											CGTCATATTTGAACTTGTCGA	0.552000													21	39					0	0	0.00278032	0	0
OR2V2	285659	broad.mit.edu	37	5	180582583	180582583	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:180582583T>C	ENST00000328275.1	+	1	641	c.641T>C	c.(640-642)aTc>aCc	p.I214T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATTCTCCATCATCGTGGCC	0.517000													4	241					0	0	0.000602214	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581721	60581721	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr14:60581721G>C	ENST00000406854.1	+	4	1453	c.899G>C	c.(898-900)gGa>gCa	p.G300A	PCNXL4_ENST00000317623.4_Missense_Mutation_p.G66A|PCNXL4_ENST00000404681.2_Missense_Mutation_p.G300A|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G66A					pecanex-like 4 (Drosophila)																		ATGTCTGCTGGAACAGCTATA	0.308000													11	33					0	0	0.00136819	0	0
CLCN3	0	broad.mit.edu	37	4	170641066	170641066	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr4:170641066T>C	ENST00000513761.1	+	13	2934	c.2375T>C	c.(2374-2376)cTt>cCt	p.L792P	CLCN3_ENST00000360642.3_Missense_Mutation_p.L765P|CLCN3_ENST00000504131.2_Missense_Mutation_p.L775P|CLCN3_ENST00000347613.4_Silent_p.P817P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	792	CBS 2.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGGCGCCTCCTTGGCATTATA	0.398000													5	59					0	0	0.00198382	0	0
NUDT12	83594	broad.mit.edu	37	5	102895751	102895751	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:102895751C>G	ENST00000230792.2	-	2	295	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	67						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACCCTTTCTCAAGCAGAAAT	0.363000													45	94					0	0	0.00361006	0	0
MT1E	4493	broad.mit.edu	37	16	56660717	56660717	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr16:56660717G>A	ENST00000330439.6	+	2	422	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MT1E_ENST00000568293.1_Intron|MT1E_ENST00000306061.6_Intron			P04732	MT1E_HUMAN	metallothionein 1E	30						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										CTGAGCTCGAGCCAGGCTTGC	0.582000													4	72					0	0	0.00024832	0	0
ARC	23237	broad.mit.edu	37	8	143695032	143695032	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr8:143695032C>T	ENST00000356613.2	-	1	1801	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	201	Required for binding DNM2 (By similarity).				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCGTCCTCGCCGGGGACC	0.726000													14	21					0	0	0.00400662	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	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				37	84					0	0	0.000953801	0	0
PRPS1	5631	broad.mit.edu	37	X	106885605	106885605	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:106885605G>C	ENST00000372435.4	+	4	537	c.415G>C	c.(415-417)Gat>Cat	p.D139H	PRPS1_ENST00000372418.1_Missense_Mutation_p.D39H|PRPS1_ENST00000543248.1_Missense_Mutation_p.D139H|PRPS1_ENST00000372428.4_Missense_Mutation_p.D72H	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	139					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GGGCTTTTTTGATATCCCAGT	0.418000													32	79					0	0	0.0024448	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													7	282	---	---	---	---					
PCDHGA11	0	broad.mit.edu	37	5	140802135	140802135	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr5:140802135delC	ENST00000398587.2	+	1	1374	c.1341delC	c.(1339-1341)aafs	p.N447fs	PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Del_p.N447fs|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATGACAACGATAACCCTC	0.537													18	218	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													7	236	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595	by1000genomes	TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)del	p.GQGQ199del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													3	5	---	---	---	---					
ATP7A	538	broad.mit.edu	37	X	77302017	77302020	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-EL-A3GR-01A-21D-A202-08	TCGA-EL-A3GR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb029001-2260-47d5-aec9-3cdd61540fc1	57ec11e4-f353-45b8-9896-fa92f4e2d563	g.chrX:77302017_77302020delCACT	ENST00000341514.6	+	23	4608_4611	c.4453_4456delCACT	c.(4453-4458)cafs	p.HS1485fs	ATP7A_ENST00000343533.5_Frame_Shift_Del_p.HS1407fs|ATP7A_ENST00000350425.4_Frame_Shift_Del_p.HS488fs	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1485					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ACCTGACAAGCACTCACTCCTGGT	0.451													123	272	---	---	---	---