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
CANX	821	broad.mit.edu	37	5	179150714	179150714	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:179150714G>T	uc011dgp.2	+	11	1632	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C	CANX_uc003mkk.3_Missense_Mutation_p.W484C|CANX_uc003mkl.3_Missense_Mutation_p.W484C|CANX_uc011dgq.2_Missense_Mutation_p.W376C	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	484					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGGCTGTGGGTAGTCTATA	0.458000													32	80					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236922	9236922	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr19:9236922A>G	uc010xkl.2	-	0	705	c.705T>C	c.(703-705)taT>taC	p.Y235Y		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAAAAGCTTTATACTTTCCAC	0.448000													27	140					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr8:144940615G>A	uc003zaa.1	-	0	6820	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2269						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716000													4	39					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555525	20555525	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr4:20555525G>C	uc003gpr.1	+	25	2863	c.2659G>C	c.(2659-2661)Gct>Cct	p.A887P	SLIT2_uc003gps.1_Missense_Mutation_p.A879P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	887	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTCGTTGTGCTGGTCCTGG	0.408000													4	94					0	0	1	0	0
FAM48A	55578	broad.mit.edu	37	13	37596275	37596275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr13:37596275G>A	uc001uwk.3	-	19	2019	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	FAM48A_uc010abt.3_Intron|FAM48A_uc001uwg.3_Intron|FAM48A_uc001uwh.3_Intron|FAM48A_uc001uwi.3_Intron|FAM48A_uc001uwj.3_Intron|FAM48A_uc001uwd.3_5'UTR|FAM48A_uc001uwe.3_Intron|FAM48A_uc001uwf.3_Intron	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	562					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GGCATTGCCTGGCTCAGAGAC	0.517000													18	26					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203818917	203818917	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr1:203818917C>G	uc001hac.3	+	16	2318	c.1702C>G	c.(1702-1704)Cag>Gag	p.Q568E	ZC3H11A_uc001had.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001hae.3_Missense_Mutation_p.Q568E|ZC3H11A_uc001haf.3_Missense_Mutation_p.Q568E|ZC3H11A_uc010pqm.2_Missense_Mutation_p.Q514E|ZC3H11A_uc001hag.1_Missense_Mutation_p.Q568E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	568							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCACATGCAGAAACAGCA	0.463000													74	104					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151914317	151914317	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:151914317C>T	uc003qol.3	+	7	1458	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	457								p.R457W(1)									CTTTGACATGCGGCTGGACGT	0.443000													7	69					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651439	38651439	+	Silent	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:38651439C>T	uc021wvo.1	-	5	772	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SCN5A_uc021wvk.1_Silent_p.V240V|SCN5A_uc021wvl.1_Silent_p.V240V|SCN5A_uc021wvm.1_Silent_p.V240V|SCN5A_uc021wvn.1_Silent_p.V240V|SCN5A_uc021wvp.1_Silent_p.V240V|SCN5A_uc021wvq.1_Silent_p.V240V|SCN5A_uc021wvr.1_Silent_p.V240V|SCN5A_uc021wvs.1_Silent_p.V240V|SCN5A_uc021wvt.1_Silent_p.V240V|SCN5A_uc021wvu.1_Silent_p.V240V|SCN5A_uc021wvv.1_Silent_p.V240V|SCN5A_uc021wvj.1_Silent_p.V106V|SCN5A_uc021wvi.1_Silent_p.V106V|SCN5A_uc010hhl.1_Silent_p.V63V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	240					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGGGCCCCCACGATGGTCT	0.617000													17	54					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190581	72190581	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr15:72190581A>T	uc002atl.4	-	24	4736	c.4263T>A	c.(4261-4263)ttT>ttA	p.F1421L	MYO9A_uc010biq.3_Missense_Mutation_p.F1041L|MYO9A_uc002atn.1_Missense_Mutation_p.F1402L|MYO9A_uc002atk.3_Missense_Mutation_p.F145L|MYO9A_uc002atm.1_Missense_Mutation_p.F145L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1421	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|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						GGGGGATATAAAAAAAAGTAG	0.398000													35	39					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46725278	46725278	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr3:46725278C>G	uc003cqa.2	-	8	1099	c.906G>C	c.(904-906)caG>caC	p.Q302H	ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.Q302H	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	302					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCACCTGGCCCTGGGAGTCCT	0.602000													11	203					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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				25	43					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37333711	37333711	+	Silent	SNP	A	A	G			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr17:37333711A>G	uc002hrm.2	-	12	1432	c.1224T>C	c.(1222-1224)taT>taC	p.Y408Y	CACNB1_uc002hrl.1_Silent_p.Y180Y|CACNB1_uc002hrn.3_Silent_p.Y408Y|CACNB1_uc002hro.3_Silent_p.Y453Y	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	408					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGCCTTCCAATAGGCTTCCA	0.612000													11	17					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240876	149240876	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr2:149240876T>C	uc002twm.4	+	9	3713	c.2716T>C	c.(2716-2718)Tca>Cca	p.S906P	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	906						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAACAGCACTTCAAACAACCA	0.483000													3	177					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232604	81232604	+	Silent	SNP	G	G	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:81232604G>A	uc002fgh.1	-	6	1206	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G	PKD1L2_uc002fgj.3_Silent_p.G402G	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	402					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTAGCGAGCCCTTTTGGG	0.532000													38	56					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711322	102711322	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr11:102711322T>A	uc001phj.1	-	4	693	c.628A>T	c.(628-630)Acc>Tcc	p.T210S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	210					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATAAATTGGTCCCTATTTAA	0.388000													18	48					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956351	128956351	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr5:128956351G>C	uc003kvb.1	+	8	1501	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	501	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCGTGTGCTGATGGTCTTCA	0.358000													8	111					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33232649	33232649	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr6:33232649C>T	uc003odm.1	-	12	1520	c.1310G>A	c.(1309-1311)tGc>tAc	p.C437Y	VPS52_uc003odn.1_Missense_Mutation_p.C248Y	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	437					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGCATCGTAGCAGTCAGCTAG	0.438000													11	212					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934851	4934851	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr16:4934851T>C	uc002cyd.1	-	21	3895	c.3805A>G	c.(3805-3807)Atc>Gtc	p.I1269V		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1269					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.E1268K(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGTAGATCTCTAAATCA	0.507000													10	168					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77158996	77159007	+	In_Frame_Del	DEL	GGCCGTTAGCGA	GGCCGTTAGCGA	-			TCGA-DJ-A1QQ-01A-11D-A14W-08	TCGA-DJ-A1QQ-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a54ee9b6-3aa0-4fe0-a688-45253b19a04c	9ea5111c-09c3-4c4a-ba2c-6adf77f634ee	g.chr10:77158996_77159007delGGCCGTTAGCGA	uc001jxg.3	-	1	1777_1788	c.1441_1452delTCGCTAACGGCC	c.(1441-1452)tcgctaacggccdel	p.SLTA481del	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	481	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA	0.684													11	19	---	---	---	---