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
CYB5A	1528	broad.mit.edu	37	18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr18:71930661C>G	uc002lli.3	-	1	322	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	61	Cytochrome b5 heme-binding.				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	TCAAAGTTCTCAGTAGCGTCA	0.443000													3	143					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	uc002uvx.3	+	16	1862	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	587					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443000													4	97					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	uc002otl.4	+	11	2696	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_uc002otm.4_Silent_p.T228T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	755						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617000													4	110					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537330	52537330	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:52537330A>G	uc002pyk.3	-	4	1920	c.1602T>C	c.(1600-1602)acT>acC	p.T534T		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398000													3	147					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	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				43	70					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508575	49508575	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr20:49508575A>G	uc002xvt.1	-	4	3021	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_uc002xvu.1_Silent_p.P892P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	892						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408000													3	196					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658138	121658138	+	Silent	SNP	T	T	C	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:121658138T>C	uc001leu.2	+	1	573	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_uc010qtc.2_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	121	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473000													4	173					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	uc003xbn.2	+	3	530	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	128					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488000													4	130					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	uc001jro.3	+	13	2751	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	767					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632000													3	111					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	uc002gne.3	+	68	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4470					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512000													4	44					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	by1000genomes	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	uc010cap.1	+	16	2066	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	672					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443000													6	273					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	uc003mee.3	-	1	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	65						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587000													4	114					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr9:20982426G>A	uc003zog.1	+	40	5072	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_uc003zoh.1_Missense_Mutation_p.R1006Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1570						integral to membrane	binding										GATGCCAATCGGATCGCCCAG	0.353000													3	91					0	0	1	0	0
CYB5A	1528	broad.mit.edu	37	18	71930661	71930661	+	Missense_Mutation	SNP	C	C	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr18:71930661C>G	uc002lli.3	-	1	322	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CYB5A_uc021ull.1_Missense_Mutation_p.E61Q|CYB5A_uc002llh.3_Missense_Mutation_p.E61Q	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	61	Cytochrome b5 heme-binding.				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	TCAAAGTTCTCAGTAGCGTCA	0.443000													3	143					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr2:201485429G>C	uc002uvx.3	+	16	1862	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_uc010zhf.2_Silent_p.L143L|AOX1_uc010fsu.3_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	587					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443000													4	97					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:42848949C>T	uc002otl.4	+	11	2696	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_uc002otm.4_Silent_p.T228T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	755						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617000													4	110					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537330	52537330	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:52537330A>G	uc002pyk.3	-	4	1920	c.1602T>C	c.(1600-1602)acT>acC	p.T534T		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCAGTATGAGTTCGCTGGT	0.398000													3	147					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	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				43	70					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508575	49508575	+	Silent	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr20:49508575A>G	uc002xvt.1	-	4	3021	c.2676T>C	c.(2674-2676)ccT>ccC	p.P892P	ADNP_uc002xvu.1_Silent_p.P892P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	892						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CAGGGTCAAAAGGGCTACCAC	0.408000													3	196					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658138	121658138	+	Silent	SNP	T	T	C	rs1063732		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr10:121658138T>C	uc001leu.2	+	1	573	c.363T>C	c.(361-363)ccT>ccC	p.P121P	SEC23IP_uc010qtc.2_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	121	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTGCTCTCCCTTTTACAACTG	0.473000													4	173					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr8:22138985G>A	uc003xbn.2	+	3	530	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_uc011kzf.1_Missense_Mutation_p.A128T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A128T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	128					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488000													4	130					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr10:73055692G>A	uc001jro.3	+	13	2751	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_uc001jrp.3_Missense_Mutation_p.R756K	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	767					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632000													3	111					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr17:11872791G>A	uc002gne.3	+	68	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_uc010coo.3_Missense_Mutation_p.E3688K|DNAH9_uc002gnf.3_Missense_Mutation_p.E782K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4470					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512000													4	44					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	by1000genomes	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr16:31425789G>A	uc010cap.1	+	16	2066	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ITGAD_uc002ebv.1_Missense_Mutation_p.V672I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	672					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443000													6	273					0	0	1	0	0
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr5:175815258G>A	uc003mee.3	-	1	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_uc003med.3_Missense_Mutation_p.A65V|NOP16_uc011dfl.2_Missense_Mutation_p.A65V|NOP16_uc011dfm.1_Missense_Mutation_p.A65V|HIGD2A_uc003meg.3_5'Flank			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	65						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587000													4	114					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr9:20982426G>A	uc003zog.1	+	40	5072	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_uc003zoh.1_Missense_Mutation_p.R1006Q	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1570						integral to membrane	binding										GATGCCAATCGGATCGCCCAG	0.353000													3	91					0	0	1	0	0