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
MMD2	221938	broad.mit.edu	37	7	4965137	4965137	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr7:4965137T>C	ENST00000404774.3	-	2	268	c.74A>G	c.(73-75)cAc>cGc	p.H25R	MMD2_ENST00000401401.3_Missense_Mutation_p.H25R|MMD2_ENST00000406755.1_Missense_Mutation_p.H25R	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	25						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GTACCTCTTGTGGGCAGGGAC	0.582000													25	70					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	17					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167245760	167245760	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr3:167245760T>C	ENST00000308378.3	-	11	1701	c.1396A>G	c.(1396-1398)Act>Gct	p.T466A	WDR49_ENST00000476376.1_Missense_Mutation_p.T291A|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	466										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTATCAGAGTTGGGGCCTTG	0.393000													16	39					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66032657	66032657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr11:66032657G>A	ENST00000394065.2	+	9	1886	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	KLC2_ENST00000421552.1_Missense_Mutation_p.A352T|KLC2_ENST00000417856.1_Missense_Mutation_p.A429T|KLC2_ENST00000394066.2_Missense_Mutation_p.A352T|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Missense_Mutation_p.A429T|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394067.2_Missense_Mutation_p.A429T			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	429					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CCGGGACAGCGCCCCCTATGG	0.657000											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48177641	48177641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr12:48177641C>T	ENST00000080059.7	-	26	2958	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	HDAC7_ENST00000552960.1_Missense_Mutation_p.E970K|HDAC7_ENST00000427332.2_Missense_Mutation_p.E948K|HDAC7_ENST00000354334.3_Missense_Mutation_p.E950K|HDAC7_ENST00000380610.4_3'UTR	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	948					negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TTCATAGGTTCTTCCTCCTCC	0.602000													3	5					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660		TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr11:3424149C>T	ENST00000529482.1	+	0	808																											TCATAGAGGACGAAGACTTCT	0.562000													3	21					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122674691	122674691	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr12:122674691C>A	ENST00000339777.4	+	5	705	c.677C>A	c.(676-678)tCc>tAc	p.S226Y	LRRC43_ENST00000425921.1_Missense_Mutation_p.S41Y	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	226										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AACCTCGTCTCCCTGGACCTG	0.647000													31	87					1.08312e-15	1.19517e-15	1	1	0
SPDL1	54908	broad.mit.edu	37	5	169021224	169021224	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr5:169021224C>T	ENST00000265295.4	+	5	886	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		TAACCTAATGCGCCAGGTAGA	0.388000													7	46					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4337299	4337299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr17:4337299G>A	ENST00000355530.2	+	1	317	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	13					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCTGAGCCTGGGCCAGGAGG	0.677000													3	14					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48536634	48536634	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr12:48536634G>A	ENST00000340802.6	+	20	2160	c.1936G>A	c.(1936-1938)Ggc>Agc	p.G646S	PFKM_ENST00000547587.1_Missense_Mutation_p.G575S|PFKM_ENST00000395233.2_Missense_Mutation_p.G544S|PFKM_ENST00000312352.7_Missense_Mutation_p.G575S|PFKM_ENST00000551804.1_Missense_Mutation_p.G544S|PFKM_ENST00000359794.5_Missense_Mutation_p.G575S	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	575					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACTATGGGTGGCTACTGTGG	0.542000													21	53					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472755	92472755	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr14:92472755T>A	ENST00000267622.4	-	11	1938	c.1565A>T	c.(1564-1566)cAa>cTa	p.Q522L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	522					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCTTCATTTTGTTGTTTTGA	0.289000			T	PDGFRB	AML								15	28					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746247	47746247	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr1:47746247G>A	ENST00000360380.3	-	13	2246	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	STIL_ENST00000243182.6_Missense_Mutation_p.S628F|STIL_ENST00000371877.3_Missense_Mutation_p.S628F|STIL_ENST00000396221.2_Missense_Mutation_p.S628F|STIL_ENST00000337817.5_Missense_Mutation_p.S628F			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	628	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATCTTGAATGGATCCAACTGT	0.418000													47	141					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													4	29					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152521048	152521048	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr2:152521048C>A	ENST00000427231.2	-	44	5620	c.5418G>T	c.(5416-5418)aaG>aaT	p.K1806N	NEB_ENST00000397345.3_Missense_Mutation_p.K1806N|NEB_ENST00000603639.1_Missense_Mutation_p.K1806N|NEB_ENST00000409198.1_Missense_Mutation_p.K1806N|NEB_ENST00000172853.10_Missense_Mutation_p.K1806N|NEB_ENST00000604864.1_Missense_Mutation_p.K1806N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1806					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTGCAGCCTTTATTGCAA	0.428000													5	5					0.000602214	0.000602214	1	1	0
PDK4	5166	broad.mit.edu	37	7	95216419	95216419	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr7:95216419C>G	ENST00000005178.5	-	10	1195	c.998G>C	c.(997-999)gGc>gCc	p.G333A		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	333	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AATTGGCAAGCCGTAACCAAA	0.388000													16	8					0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48372982	48372982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chrX:48372982G>A	ENST00000367574.4	+	8	1174	c.669G>A	c.(667-669)tgG>tgA	p.W223*	PORCN_ENST00000326194.6_Nonsense_Mutation_p.W305*|PORCN_ENST00000361988.3_Nonsense_Mutation_p.W294*|PORCN_ENST00000359882.4_Nonsense_Mutation_p.W299*|PORCN_ENST00000355961.4_Nonsense_Mutation_p.W300*|PORCN_ENST00000537758.1_Nonsense_Mutation_p.W305*|PORCN_ENST00000355092.3_Nonsense_Mutation_p.W299*			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	305					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCACAAGCTGGAACCTGCCCA	0.483000													20	41					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385035	41385035	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr21:41385035G>T	ENST00000400454.1	-	33	6442	c.5965C>A	c.(5965-5967)Caa>Aaa	p.Q1989K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1989				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTGATTCTTGGGAGCTGCTC	0.562000													9	28					2.17888e-05	2.32414e-05	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160761893	160761893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr5:160761893G>A	ENST00000274547.2	-	8	915	c.698C>T	c.(697-699)tCc>tTc	p.S233F	GABRB2_ENST00000517901.1_Missense_Mutation_p.S170F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S233F|GABRB2_ENST00000353437.6_Missense_Mutation_p.S233F|GABRB2_ENST00000517547.1_Missense_Mutation_p.S73F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S233F	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	233					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAAGCTGAGGGATAACCTGGG	0.378000													9	45					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167796383	167796383	+	Translation_Start_Site	SNP	C	C	T			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr6:167796383C>T	ENST00000366827.2	-	0	190				TCP10_ENST00000397829.4_De_novo_Start_OutOfFrame|TCP10_ENST00000476779.2_De_novo_Start_OutOfFrame			Q12799	TCP10_HUMAN	t-complex 10							cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTCCCGGGCACGGGTCTTCTG	0.647000													4	3					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57602232	57602232	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr1:57602232A>G	ENST00000371236.2	-	4	553	c.290T>C	c.(289-291)tTt>tCt	p.F97S	DAB1_ENST00000371230.1_Missense_Mutation_p.F97S|DAB1_ENST00000371231.1_Missense_Mutation_p.F97S|DAB1_ENST00000414851.2_Missense_Mutation_p.F97S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.F97S|DAB1_ENST00000420954.2_Missense_Mutation_p.F97S|DAB1_ENST00000371234.4_Missense_Mutation_p.F97S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	97	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTCTCATCAAAGATTTTGAT	0.413000													3	26					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	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				22	44					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51456246	51456246	+	Silent	SNP	G	G	A			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr3:51456246G>A	ENST00000335891.5	-	8	1983	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1107					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CAAGCATCAGGAACCGCTCCC	0.498000													18	34					0	0	1	0	0
MGME1	92667	broad.mit.edu	37	20	17950555	17950555	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr20:17950555T>G	ENST00000377710.5	+	2	341	c.53T>G	c.(52-54)tTt>tGt	p.F18C	MGME1_ENST00000377704.4_Missense_Mutation_p.F18C|MGME1_ENST00000377709.1_Missense_Mutation_p.F18C	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		AGTTCAAAGTTTTCTGTGGAA	0.413000													15	70					0	0	1	0	0
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													3	3	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6774808	6774809	+	RNA	INS	-	-	A	rs79351634		TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr7:6774808_6774809insA	ENST00000486256.1	+	0	748					NR_002217.1																						gaccttgtctcaaaaaaaaaac	0.470													2	4	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aaafs	p.K162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													7	166	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EB-A3XE-01A-12D-A23B-08	TCGA-EB-A3XE-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5cf76c0-b02b-4d85-a73d-fa18ff2b0eac	6e985c20-0123-4be3-9c88-2301cb76f604	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)del	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													3	5	---	---	---	---					
