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
LOC440040	440040	broad.mit.edu	37	11	49831415	49831415	+	RNA	SNP	T	T	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr11:49831415T>G	ENST00000527477.1	+	0	1640																											CACCTACAAGTTTTCTTGCAT	0.453000													8	36					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969706	117969706	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr11:117969706A>G	ENST00000534111.1	+	3	309	c.44A>G	c.(43-45)aAa>aGa	p.K15R	TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.K17R|TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.K17R	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	17					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCAGATGTCAAACCCCTGCGC	0.552000													16	36					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232318	35232318	+	Silent	SNP	T	T	G	rs2607243		TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr19:35232318T>G	ENST00000392232.3	+	6	1332	c.1164T>G	c.(1162-1164)acT>acG	p.T388T	ZNF181_ENST00000459757.1_Silent_p.T343T|ZNF181_ENST00000492450.1_Silent_p.T344T			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAATTCATACTCAAGAAAAAC	0.388000													5	95					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73902341	73902341	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr6:73902341A>T	ENST00000342056.2	+	14	2218	c.1820A>T	c.(1819-1821)gAg>gTg	p.E607V	KCNQ5_ENST00000403813.2_Missense_Mutation_p.E579V|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E478V|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E588V|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E589V|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E588V|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E598V	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	588					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAGAGCCGAGAGAAAATAACA	0.438000													15	37					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41516542	41516542	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr21:41516542G>T	ENST00000400454.1	-	17	3612	c.3135C>A	c.(3133-3135)gaC>gaA	p.D1045E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1045	Fibronectin type-III 2.				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)				AAACCTCACTGTCCCCGCTGG	0.527000													7	71					0.00198382	0.00198382	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791036	49791036	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr10:49791036G>T	ENST00000249601.4	-	2	492	c.196C>A	c.(196-198)Ctt>Att	p.L66I	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.L66I|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.L72I	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	66	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGTAGAAAAGCTGATCCCCA	0.587000													53	19					2.29192e-23	2.34522e-23	1	1	0
PCLO	27445	broad.mit.edu	37	7	82586188	82586188	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr7:82586188T>A	ENST00000423517.2	-	5	4418	c.4081A>T	c.(4081-4083)Agc>Tgc	p.S1361C	PCLO_ENST00000333891.8_Missense_Mutation_p.S1361C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1292					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCGTGTCGCTCAGACCTTGG	0.413000													26	24					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54968017	54968017	+	Silent	SNP	C	C	T	rs146677175	byFrequency	TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr4:54968017C>T	ENST00000326902.2	+	2	1157	c.843C>T	c.(841-843)taC>taT	p.Y281Y	GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	281						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGGTGCACTACGCGCGCTCCG	0.632000													18	38					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	C	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr7:814759C>T	ENST00000297440.6	+	11	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_ENST00000403952.3_Silent_p.G158G|HEATR2_ENST00000313147.5_Silent_p.G733G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	733							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512000											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	69					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86712974	86712974	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr2:86712974A>C	ENST00000409556.1	+	22	3670	c.3305A>C	c.(3304-3306)aAt>aCt	p.N1102T	KDM3A_ENST00000409064.1_Missense_Mutation_p.N1102T|KDM3A_ENST00000312912.5_Missense_Mutation_p.N1102T|KDM3A_ENST00000542128.1_Missense_Mutation_p.N1050T			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1102	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AAGATGTATAATGCTTATGGT	0.433000													25	27					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	402407	402407	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr10:402407T>C	ENST00000280886.6	-	24	3031	c.2944A>G	c.(2944-2946)Acc>Gcc	p.T982A	DIP2C_ENST00000540204.1_Missense_Mutation_p.T303A|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	982						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCGGGGTGGTCTGTGCTCTC	0.622000													22	25					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89992489	89992489	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr12:89992489C>T	ENST00000359142.3	-	20	3607	c.3383G>A	c.(3382-3384)aGt>aAt	p.S1128N	ATP2B1_ENST00000393164.2_Intron|ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000348959.3_Intron|ATP2B1_ENST00000428670.3_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1128					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTGAATGGAACTTCCACTCTG	0.468000													83	107					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	78130980	78130980	+	Silent	SNP	A	A	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr7:78130980A>C	ENST00000354212.4	-	5	1132	c.879T>G	c.(877-879)acT>acG	p.T293T	MAGI2_ENST00000419488.1_Silent_p.T293T|MAGI2_ENST00000522391.1_Silent_p.T293T|MAGI2_ENST00000536571.1_Silent_p.T125T|MAGI2_ENST00000535697.1_Silent_p.T130T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	293						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTCAGGTTTAGTTGGCTTTG	0.512000													8	121					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	82					0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732464	74732464	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr17:74732464A>G	ENST00000392485.2	-	2	617	c.445T>C	c.(445-447)Tct>Cct	p.S149P	SRSF2_ENST00000359995.5_Missense_Mutation_p.S149P|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.S137P|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	149	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CGGGACCGAGACTTCGAGCGG	0.657000			Mis		"""MDS, CLL"""								32	33					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101192933	101192933	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr2:101192933G>A	ENST00000264254.6	+	6	1073	c.695G>A	c.(694-696)aGg>aAg	p.R232K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	232					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						CTCATGAAGAGGGACAGCGAT	0.463000													8	44					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228499	4228499	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr20:4228499G>C	ENST00000379453.4	-	1	1222	c.1106C>G	c.(1105-1107)cCg>cGg	p.P369R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	369					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CTCACCGAGCGGCAGGACAAA	0.632000													6	7					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81282101	81282101	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr15:81282101A>C	ENST00000261758.4	-	1	118	c.32T>G	c.(31-33)gTg>gGg	p.V11G		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	11	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AAGCAGGACCACGGCCTTGCG	0.711000													8	12					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279828	152279828	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr1:152279828T>G	ENST00000368799.1	-	3	7569	c.7534A>C	c.(7534-7536)Agt>Cgt	p.S2512R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2512	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.562000									Ichthyosis				26	759					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137649	31137649	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr10:31137649C>A	ENST00000538351.1	-	7	2292	c.1538G>T	c.(1537-1539)cGt>cTt	p.R513L	ZNF438_ENST00000452305.1_Missense_Mutation_p.R552L|ZNF438_ENST00000361310.3_Missense_Mutation_p.R562L|ZNF438_ENST00000436087.2_Missense_Mutation_p.R562L|ZNF438_ENST00000331737.6_Missense_Mutation_p.R552L|ZNF438_ENST00000442986.1_Missense_Mutation_p.R562L|ZNF438_ENST00000413025.1_Missense_Mutation_p.R562L|ZNF438_ENST00000444692.2_Missense_Mutation_p.R552L|ZNF438_ENST00000375311.1_Missense_Mutation_p.R126L	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTTCTTCAGACGGTTCTCACC	0.473000													84	28					2.84431e-33	2.97975e-33	1	1	0
SND1	27044	broad.mit.edu	37	7	127341216	127341216	+	Splice_Site	SNP	G	G	T	rs112325317		TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr7:127341216G>T	ENST00000354725.3	+	5	622		c.e5-1			NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTATGTCCCAGTCCTGAGCAG	0.453000													53	114					1.33152e-38	1.42895e-38	1	1	0
AJAP1	55966	broad.mit.edu	37	1	4832476	4832476	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr1:4832476G>A	ENST00000378191.4	+	4	1435	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	AJAP1_ENST00000378190.3_Missense_Mutation_p.E352K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	352	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GGCCTATAACGAGACCCTGCA	0.597000													16	19					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73234405	73234405	+	Silent	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr17:73234405G>A	ENST00000245541.6	-	17	2343	c.2127C>T	c.(2125-2127)ggC>ggT	p.G709G	GGA3_ENST00000351904.7_Silent_p.G676G|GGA3_ENST00000582717.1_Silent_p.G637G|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000538886.1_Silent_p.G587G|GGA3_ENST00000578348.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	709	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.G709G(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGTCCACCTCGCCCACCTCTG	0.617000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	45					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70275168	70275168	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr11:70275168A>G	ENST00000346329.3	+	13	1236	c.928A>G	c.(928-930)Aca>Gca	p.T310A	CTTN_ENST00000538675.1_Missense_Mutation_p.T31A|CTTN_ENST00000376561.3_Missense_Mutation_p.T310A|CTTN_ENST00000301843.8_Missense_Mutation_p.T347A	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	347						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GACCAGCAAAACAAGTAACAT	0.557000													8	143					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4110574	4110574	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr19:4110574G>A	ENST00000262948.5	-	3	636	c.383C>T	c.(382-384)cCg>cTg	p.P128L	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Missense_Mutation_p.P31L	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGATGTACGGCGAGTTGCA	0.622000													7	58					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44804931	44804931	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr1:44804931G>A	ENST00000372257.2	-	3	456	c.275C>T	c.(274-276)tCg>tTg	p.S92L	ERI3_ENST00000537474.1_Intron|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	92						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGTAAATACGAAGAAAATCG	0.428000													13	148					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113233760	113233760	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr9:113233760G>A	ENST00000401783.2	-	16	3218	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P938L|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P961L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	961					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAATACATGGGGTCTTTGTT	0.413000													3	23					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19752610	19752610	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr22:19752610G>C	ENST00000332710.4	+	6	943	c.814G>C	c.(814-816)Gcg>Ccg	p.A272P	TBX1_ENST00000359500.3_Missense_Mutation_p.A272P|TBX1_ENST00000329705.7_Missense_Mutation_p.A272P	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	272					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ACGATTCACCGCGGTCACTGC	0.547000													39	48					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254234	98254234	+	Splice_Site	SNP	G	G	A			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr7:98254234G>A	ENST00000265634.3	+	3	809	c.643_splice	c.e3-1	p.G215_splice		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	215					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CAACCCCCAGGCAATAGCGCC	0.582000													32	345					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	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				58	46					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139274	58139274	+	Silent	SNP	C	C	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr3:58139274C>T	ENST00000295956.4	+	39	6705	c.6540C>T	c.(6538-6540)ccC>ccT	p.P2180P	FLNB_ENST00000348383.5_Silent_p.P2139P|FLNB_ENST00000419752.2_Silent_p.P2000P|FLNB_ENST00000429972.2_Silent_p.P2169P|FLNB_ENST00000490882.1_Silent_p.P2211P|FLNB_ENST00000493452.1_Silent_p.P1987P|FLNB_ENST00000358537.3_Silent_p.P2156P|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2180	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGCAGCCCCTTCCAGTTCA	0.662000													16	28					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	82					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													3	3	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													7	211	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	3	---	---	---	---					
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090680	58090681	+	RNA	INS	-	-	T			TCGA-D9-A4Z2-01A-11D-A24R-08	TCGA-D9-A4Z2-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a5a972a-239c-4822-859b-0a8b766d0549	8b37454f-4e7a-4fcb-8ab6-da0c2a05ca89	g.chr17:58090680_58090681insT	ENST00000407042.3	-	0	609																											ACTCTGAATGATTTTTTTTTTT	0.455													3	6	---	---	---	---