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
NFX1	4799	broad.mit.edu	37	9	33294604	33294604	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr9:33294604A>G	uc003zsr.3	+	1	365	c.212A>G	c.(211-213)cAt>cGt	p.H71R	NFX1_uc011lnw.2_Missense_Mutation_p.H71R|NFX1_uc003zso.3_Missense_Mutation_p.H71R|NFX1_uc003zsp.2_Missense_Mutation_p.H71R|NFX1_uc010mjr.2_Missense_Mutation_p.H71R|NFX1_uc003zsq.3_Missense_Mutation_p.H71R	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	71					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTTCATCAGCATAGTTATCAT	0.453000													7	333					0	0	1	0	0
SERF2	10169	broad.mit.edu	37	15	44085945	44085945	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085945A>T	uc010bdq.3	+	2	689	c.288A>T	c.(286-288)caA>caT	p.Q96H	ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.N52Y|SERF2_uc021skb.1_Missense_Mutation_p.N52Y|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Missense_Mutation_p.Q59H|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.N38Y|MIR1282_uc021ske.1_Non-coding_Transcript	NM_001199875	NP_001186804	P84101	SERF2_HUMAN	Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAAAAGGCAAACGAGAAGAA	0.572000													5	189					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8952307	8952307	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr16:8952307G>A	uc002czh.1	-	2	531	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	CARHSP1_uc002czi.1_Missense_Mutation_p.P61S	NM_001042476	NP_055131	Q9Y2V2	CHSP1_HUMAN	Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.	61					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						TTGTAGACGGGGCCCTGTGAA	0.607000													6	81					0	0	1	0	0
PAWR	5074	broad.mit.edu	37	12	79990400	79990400	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:79990400T>C	uc001syx.3	-	4	1008	c.722A>G	c.(721-723)tAt>tGt	p.Y241C		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	241					actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTTCGAGAATATCTACTTGA	0.358000													46	76					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42281493	42281493	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr18:42281493A>T	uc010dni.3	+	1	478	c.182A>T	c.(181-183)gAt>gTt	p.D61V	SETBP1_uc002lay.3_Missense_Mutation_p.D61V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	61						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGGAGGAGGATGAACTAGGC	0.582000									Schinzel-Giedion syndrome				12	114					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216251673	216251673	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:216251673C>T	uc001hku.1	-	26	5717	c.5330G>A	c.(5329-5331)cGg>cAg	p.R1777Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1777	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.F1776Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATTTAACCGGAAGGTCAA	0.373000										HNSCC(13;0.011)			5	712					0	0	1	0	0
SERF2	10169	broad.mit.edu	37	15	44085952	44085952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr15:44085952A>T	uc010bdq.3	+	2	696	c.295A>T	c.(295-297)Aga>Tga	p.R99*	ELL3_uc001zsx.1_Intron|SERF2_uc001zsz.4_Missense_Mutation_p.K54M|SERF2_uc021skb.1_Missense_Mutation_p.K54M|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc021skc.1_Nonsense_Mutation_p.R62*|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_Missense_Mutation_p.K40M|MIR1282_uc021ske.1_Non-coding_Transcript	NM_001199875	NP_001186804	P84101	SERF2_HUMAN	Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 1, mRNA.	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCAAACGAGAAGAAGGAGGAA	0.562000													6	183					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161024210	161024210	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:161024210T>A	uc001fxl.3	-	4	828	c.482A>T	c.(481-483)cAg>cTg	p.Q161L	ARHGAP30_uc001fxk.3_Missense_Mutation_p.Q161L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.Q7L|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q7L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	161	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATGTTGGTCTGGGCACTGAA	0.597000													13	39					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	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				41	86					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280362	238280362	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr2:238280362G>A	uc002vwq.3	-	7	3965	c.3680C>T	c.(3679-3681)gCg>gTg	p.A1227V	COL6A3_uc002vwl.2_Intron|COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwr.3_Missense_Mutation_p.A1026V	NM_057165	NP_476506	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 3, mRNA.	1434	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACCTCCGACGCCCCCATCTC	0.478000													5	246					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155026852	155026852	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:155026852A>G	uc001fgr.1	+	5	583	c.482A>G	c.(481-483)cAg>cGg	p.Q161R	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.Q145R|ADAM15_uc010peu.1_Missense_Mutation_p.Q178R|ADAM15_uc001fgx.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgs.1_Missense_Mutation_p.Q161R|ADAM15_uc010pev.1_Missense_Mutation_p.Q171R|ADAM15_uc001fgu.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgv.1_Missense_Mutation_p.Q161R|ADAM15_uc001fgw.1_Missense_Mutation_p.Q161R	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	161					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGGGACCTTCAGGGTCCTCCC	0.547000													4	199					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12416017	12416017	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr1:12416017C>G	uc001atv.3	+	47	9882	c.9741C>G	c.(9739-9741)aaC>aaG	p.N3247K	VPS13D_uc001atw.3_Missense_Mutation_p.N3222K|VPS13D_uc001atx.3_Missense_Mutation_p.N2434K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3246					protein localization			p.Q3246P(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCAAAACTATATGGTGA	0.438000													5	125					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73879565	73879565	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr11:73879565C>T	uc001ouu.2	-	1	376	c.149G>A	c.(148-150)tGg>tAg	p.W50*	PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Nonsense_Mutation_p.W50*	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	50						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAATCTTCCATATGACTCT	0.458000													7	256					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23696258	23696258	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr12:23696258T>C	uc001rfw.3	-	12	1760	c.1658A>G	c.(1657-1659)gAa>gGa	p.E553G	SOX5_uc001rfx.3_Missense_Mutation_p.E540G|SOX5_uc001rfy.3_Missense_Mutation_p.E432G|SOX5_uc001rfv.3_Missense_Mutation_p.E167G|SOX5_uc010siv.2_Missense_Mutation_p.E540G|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.E505G	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	553					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TATGTGGGGTTCATTGCTACC	0.458000													5	210					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40823936	40823936	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr21:40823936G>A	uc002yya.3	+	0	157	c.103G>A	c.(103-105)Gct>Act	p.A35T	SH3BGR_uc002yxz.3_Intron	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	35					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGCACTTGCTTGCCTGTG	0.592000													5	195					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374545	140374545	+	Silent	SNP	G	G	C			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr7:140374545G>C	uc003vvy.1	+	1	1246	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	ADCK2_uc003vvz.3_Silent_p.L356L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	356	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTGAGAAGCTGATGGTCCAAC	0.458000													16	27					0	0	1	0	0
GFRA4	64096	broad.mit.edu	37	20	3641263	3641264	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-DJ-A2PO-01A-21D-A19J-08	TCGA-DJ-A2PO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5ffc76d-2cea-418a-bc0d-806af868c101	b8861657-0dcc-433c-bfa6-3c83eaddddb5	g.chr20:3641263_3641264delCG	uc002wio.3	-	2	636_637	c.636_637delCG	c.(634-639)cgcgtgfs	p.R212fs	GFRA4_uc002win.3_Frame_Shift_Del_p.R182fs|GFRA4_uc002wip.1_3'UTR	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	212						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CAGGGCGCCACGCGCGCGCTCA	0.698													2	4	---	---	---	---					
