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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
PDZD2	23037	broad.mit.edu	37	5	32087441	32087441	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:32087441C>A	uc003jhl.3	+	19	4275	c.3887C>A	c.(3886-3888)gCa>gAa	p.A1296E	PDZD2_uc003jhm.3_Missense_Mutation_p.A1296E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1296					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGAGAAAGCAGCGGCTCCC	0.652													2.13E-09	1	1.85E-09	0	1	55	26
C11orf70	85016	broad.mit.edu	37	11	101951999	101951999	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:101951999A>C	uc001pgp.3	+	5	695	c.662A>C	c.(661-663)aAa>aCa	p.K221T	C11orf70_uc001pgq.3_Missense_Mutation_p.K183T	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	221										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCTGTCTTTAAAGTTTCAGCT	0.313													0	1	0	0	0	29	10
SLC26A9	115019	broad.mit.edu	37	1	205892719	205892719	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:205892719G>C	uc001hdp.3	-	13	1633	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	SLC26A9_uc001hdo.3_Missense_Mutation_p.Q175E|SLC26A9_uc001hdq.3_Missense_Mutation_p.Q507E	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	507						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.Q507K(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCATGACCTGGGCCAGTGCA	0.493													0	1	0	0	0	28	16
PTH2R	5746	broad.mit.edu	37	2	209302540	209302540	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:209302540A>C	uc010zjb.2	+	3	664	c.378A>C	c.(376-378)ttA>ttC	p.L126F	PTH2R_uc002vdb.3_Missense_Mutation_p.L115F	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	115						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCACAGCTTAAATAAAACAT	0.413													0	1	0	0	0	53	8
DBR1	51163	broad.mit.edu	37	3	137886109	137886109	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr3:137886109C>A	uc003erv.3	-	4	682	c.528G>T	c.(526-528)tgG>tgT	p.W176C	DBR1_uc003eru.3_Missense_Mutation_p.W125C	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	176						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTCTTGGCCAATCATGAG	0.328													1.15E-01	1	1.15E-01	0	1	34	3
PLEC	5339	broad.mit.edu	37	8	144994984	144994984	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:144994984C>T	uc003zaf.1	-	31	9586	c.9416G>A	c.(9415-9417)cGa>cAa	p.R3139Q	PLEC_uc003zab.1_Missense_Mutation_p.R3002Q|PLEC_uc003zac.1_Missense_Mutation_p.R3006Q|PLEC_uc003zad.2_Missense_Mutation_p.R3002Q|PLEC_uc003zae.1_Missense_Mutation_p.R2970Q|PLEC_uc003zag.1_Missense_Mutation_p.R2980Q|PLEC_uc003zah.2_Missense_Mutation_p.R2988Q|PLEC_uc003zaj.2_Missense_Mutation_p.R3029Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCACCTCGCTGCAGCTG	0.687													0	1	0	0	0	23	19
VCAM1	7412	broad.mit.edu	37	1	101198098	101198098	+	Silent	SNP	C	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:101198098C>A	uc001dti.3	+	6	1871	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	VCAM1_uc010ouj.2_Silent_p.L488L|VCAM1_uc001dtj.3_Silent_p.L458L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	550	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAGGCAGCTCCCTAACGGGG	0.478													3.18E-03	1	3.08E-03	0	1	56	8
PXDNL	137902	broad.mit.edu	37	8	52339273	52339273	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:52339273A>G	uc003xqu.4	-	12	1672	c.1571T>C	c.(1570-1572)gTt>gCt	p.V524A		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	524	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCTTTCCAACCTCGACACT	0.338													0	1	0	0	0	5	3
CNIH4	29097	broad.mit.edu	37	1	224544627	224544627	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:224544627A>T	uc001hom.1	+	0	33	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CNIH4_uc001hon.1_Non-coding_Transcript	NM_014184	NP_054903	Q9P003	CNIH4_HUMAN	Homo sapiens cornichon homolog 4 (Drosophila) (CNIH4), mRNA.	1					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAGGAGGAGGATGGAGGCGGT	0.647													0	1	0	0	0	1	3
SEL1L2	80343	broad.mit.edu	37	20	13830243	13830243	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr20:13830243G>A	uc010gcf.3	-	19	2037	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	SEL1L2_uc002woq.4_Missense_Mutation_p.T513M|SEL1L2_uc010zrl.2_Missense_Mutation_p.T539M|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	652						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTCCATCTCGTTGTGAACTG	0.483													0	1	0	0	0	37	11
ZNF467	168544	broad.mit.edu	37	7	149463284	149463284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:149463284G>A	uc003wgd.2	-	4	448	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF467_uc003wgc.3_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCTCCTGATCTTCGTCC	0.542													0	1	0	0	0	28	19
FLNA	2316	broad.mit.edu	37	X	153593301	153593301	+	Silent	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:153593301G>A	uc004fkk.2	-	11	1965	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	FLNA_uc010nuu.1_Silent_p.T572T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	572					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCACACTCGGTGCCCACCT	0.642													0	1	0	0	0	156	7
VPS53	55275	broad.mit.edu	37	17	465847	465847	+	Silent	SNP	T	C	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr17:465847T>C	uc010cjo.2	-	13	1599	c.1452A>G	c.(1450-1452)caA>caG	p.Q484Q	VPS53_uc002frk.3_Silent_p.Q3Q|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Silent_p.Q455Q|VPS53_uc002frn.2_Silent_p.Q484Q|VPS53_uc002fro.2_Silent_p.Q286Q|VPS53_uc010cjp.1_Silent_p.Q207Q	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	484					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTGAGAGCATTGCACCATGC	0.567													0	1	0	0	0	59	6
APOB	338	broad.mit.edu	37	2	21230694	21230694	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:21230694C>A	uc002red.3	-	25	9174	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3016					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTAAACTCTGCCTTCCCT	0.423													1.87E-12	1	1.56E-12	0	1	46	20
SPATS1	221409	broad.mit.edu	37	6	44336175	44336175	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:44336175C>T	uc021yzz.1	+	5	735	c.634C>T	c.(634-636)Cca>Tca	p.P212S	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.P97S|SPATS1_uc003oxk.3_Missense_Mutation_p.P212S	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	212										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATATATGTACCCAGAACAGAG	0.378													0	1	0	0	0	47	11
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	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	0.368	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				0	1	0	0	0	44	20
ARMCX2	9823	broad.mit.edu	37	X	100911988	100911988	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:100911988C>A	uc010nnt.2	-	4	1396	c.587G>T	c.(586-588)gGt>gTt	p.G196V	ARMCX2_uc004eid.2_Missense_Mutation_p.G196V|ARMCX2_uc004eie.3_Missense_Mutation_p.G196V|ARMCX2_uc004eif.3_Missense_Mutation_p.G196V|ARMCX2_uc004eig.3_Missense_Mutation_p.G196V|ARMCX2_uc022caq.1_Missense_Mutation_p.G196V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	196	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TACCCCAGGACCCTCGGTCAC	0.662													1.80E-14	1	1.45E-14	0	1	34	19
TAX1BP1	8887	broad.mit.edu	37	7	27856087	27856087	+	Missense_Mutation	SNP	T	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:27856087T>A	uc003szl.3	+	13	2066	c.1884T>A	c.(1882-1884)aaT>aaA	p.N628K	TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	628					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378													0	1	0	0	0	73	37
AIM1	202	broad.mit.edu	37	6	106968615	106968615	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:106968615A>T	uc003prh.3	+	1	3220	c.2308A>T	c.(2308-2310)Atg>Ttg	p.M770L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	770							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)		TTTACATTTGATGCAGAACCT	0.453													0	1	0	0	0	47	38
CXorf65	158830	broad.mit.edu	37	X	70324246	70324246	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:70324246G>A	uc011mpo.2	-	4	560	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	CXorf65_uc011mpp.2_Missense_Mutation_p.R62C	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	110								p.L109P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CATTGTATGCGCAGTGCAACT	0.478													0	1	0	0	0	16	3
KIAA1967	57805	broad.mit.edu	37	8	22476665	22476665	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:22476665G>T	uc003xch.3	+	19	2773	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	KIAA1967_uc003xci.3_Nonsense_Mutation_p.E842*|KIAA1967_uc003xcj.1_Nonsense_Mutation_p.E511*	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	842					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTTGCAGAGGAGAGCCATAA	0.617													1.37E-05	1	1.24E-05	0	1	15	5
SIGLEC11	114132	broad.mit.edu	37	19	50455611	50455611	+	Silent	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr19:50455611G>A	uc010ybh.2	-	8	1783	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	SIGLEC11_uc010ybi.2_Silent_p.A468A	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	564					cell adhesion	integral to membrane	sugar binding	p.F563F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCTCCCAGGGCAGCCCCCA	0.657													0	1	0	0	0	36	27
KCNV2	169522	broad.mit.edu	37	9	2718725	2718725	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr9:2718725G>A	uc003zho.2	+	0	1200	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	329						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACCTGAGGCGCTTCGCGCGC	0.672													0	1	0	0	0	37	16
LOC100132247	100132247	broad.mit.edu	37	16	22545452	22545454	+	In_Frame_Del	DEL	ATA	-	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:22545452_22545454delATA	uc010bxg.3	+	8	1330_1332	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	LOC100132247_uc010vbv.2_In_Frame_Del_p.N384del|LOC100132247_uc021tew.1_In_Frame_Del_p.N384del|LOC100132247_uc010bxi.3_In_Frame_Del_p.N365del|LOC100132247_uc010bxk.3_In_Frame_Del_p.N201del	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCAGCGGATGATAATCTCAAGAC	0.576																		5	3
SOWAHA	134548	broad.mit.edu	37	5	132150581	132150581	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:132150581delA	uc003kxw.3	+	0	1549	c.1268delA	c.(1267-1269)tacfs	p.Y423fs		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	423																	CGTCGCGCCTACCAGTACCTG	0.701																		4	2
