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
CNKSR1	10256	broad.mit.edu	37	1	26507021	26507021	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:26507021C>G	uc001bln.4	+	1	188	c.130C>G	c.(130-132)Caa>Gaa	p.Q44E	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.Q44E|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	44	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTGCCCCCAAAGCCTCGA	0.622000													7	93					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111893961	111893961	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:111893961T>A	uc001tsj.3	-	22	3778	c.3616A>T	c.(3616-3618)Aca>Tca	p.T1206S	ATXN2_uc001tsh.3_Missense_Mutation_p.T941S|ATXN2_uc001tsi.3_Missense_Mutation_p.T899S|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.T207S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1206					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GAGGCAGGTGTCATGGAGGGT	0.587000													98	126					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33036256	33036256	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:33036256G>A	uc002rom.3	+	16	2437	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R	TTC27_uc010ymx.2_Missense_Mutation_p.G672R	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	722							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATATGGAAATGGGCAGAGTGA	0.433000													13	16					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444373	76444373	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:76444373G>A	uc001sxw.2	-	11	1409	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	NAP1L1_uc001sxz.2_Missense_Mutation_p.R264C|NAP1L1_uc010stz.1_Missense_Mutation_p.R150C|NAP1L1_uc001sxx.2_Missense_Mutation_p.R333C|NAP1L1_uc010sty.1_Missense_Mutation_p.R290C|NAP1L1_uc010sua.1_Missense_Mutation_p.R333C|NAP1L1_uc001syb.3_Missense_Mutation_p.R333C	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	333					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGGATTATACGCTCACGTAAA	0.343000													15	20					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202744823	202744823	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:202744823C>T	uc002uyt.2	+	11	1180	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	CDK15_uc002uys.2_Silent_p.S326S|CDK15_uc010ftn.1_Silent_p.S326S|CDK15_uc002uyu.1_Non-coding_Transcript	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	377	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACCGCGTCTCCGCCCAGGAAG	0.552000													7	65					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56166505	56166505	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56166505A>G	uc002qlu.3	+	0	1090	c.35A>G	c.(34-36)aAc>aGc	p.N12S	U2AF2_uc002qlt.3_Missense_Mutation_p.N12S	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	12					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGCAGCTCAACGAGAATAAA	0.682000													8	34					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929590	35929590	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:35929590C>A	uc001iyz.1	-	0	773	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	256					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.G255G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGTTAGCGATCTGGCCTGTCT	0.682000													26	23					0	0	1	0	0
HNRPDL	9987	broad.mit.edu	37	4	83350530	83350530	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:83350530G>A	uc003hmr.3	-	0	849	c.314C>T	c.(313-315)aCc>aTc	p.T105I	ENOPH1_uc003hmv.3_5'Flank|ENOPH1_uc003hmx.3_5'Flank|HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.T105I	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	105					RNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CGCAGTCCGGGTCGCGGCAGC	0.622000													19	59					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108190727	108190727	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:108190727C>G	uc001pkb.1	+	43	6779	c.6394C>G	c.(6394-6396)Cta>Gta	p.L2132V	ATM_uc009yxr.1_Missense_Mutation_p.L2132V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L784V|ATM_uc001pkg.1_Missense_Mutation_p.L489V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2132	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTACAATGCTCTACAATCTCT	0.299000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			29	50					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13441034	13441034	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:13441034G>A	uc010rcl.2	-	2	852	c.581C>T	c.(580-582)aCt>aTt	p.T194I	BTBD10_uc001mkz.3_Missense_Mutation_p.T186I|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.T138I|BTBD10_uc010rcn.2_Missense_Mutation_p.T155I|BTBD10_uc009ygo.3_Missense_Mutation_p.T138I	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	186	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGCTGTGCAGTAAAAATGGA	0.333000													3	55					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41754716	41754716	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr6:41754716A>G	uc011duf.1	+	7	1252	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_Non-coding_Transcript|TOMM6_uc011dug.1_5'UTR	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	295						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGTGATCCCAAGGACACCCCT	0.607000											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	165					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445437	29445437	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:29445437A>G	uc003aeg.3	+	7	1268	c.1268A>G	c.(1267-1269)cAc>cGc	p.H423R	ZNRF3_uc021wnq.1_Missense_Mutation_p.H323R	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	423						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCACCCCTCCACCTGGACCAC	0.697000													20	37					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64197108	64197108	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:64197108C>T	uc002lkc.1	-	8	1570	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.V478I	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	478	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTTCACAAACATAAGTCTCA	0.328000													27	27					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033986	110033986	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:110033986C>G	uc001dxr.3	+	9	1816	c.1801C>G	c.(1801-1803)Ctc>Gtc	p.L601V	ATXN7L2_uc001dxs.3_Missense_Mutation_p.L228V|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	601										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGTAGGGGCCTCTCGGCCAA	0.592000													37	54					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25182127	25182127	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:25182127G>A	uc002dnx.1	+	9	1042	c.884_splice	c.e9+1	p.R295_splice	LCMT1_uc002dny.1_Splice_Site_p.R240_splice	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	295							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAGTGAGCAGGTATGGGGTTG	0.473000													32	54					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679804	100679804	+	Missense_Mutation	SNP	G	G	A	rs71525815		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:100679804G>A	uc003uxp.1	+	2	5160	c.5107G>A	c.(5107-5109)Gcc>Acc	p.A1703T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1703	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1703A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACACCGGTGGCCAGCTCTGC	0.478000													23	289					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43519707	43519707	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:43519707T>C	uc002lbm.3	-	9	2058	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	EPG5_uc002lbo.1_Missense_Mutation_p.Y653C	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	653					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTCACTTACATAACCAAGAGT	0.388000													9	25					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648922	150648922	+	Splice_Site	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr7:150648922A>G	uc003wic.3	-	7	1959	c.1558_splice	c.e7-1	p.L520_splice	KCNH2_uc003wib.3_Splice_Site_p.L180_splice|KCNH2_uc011kux.2_Splice_Site_p.L424_splice|KCNH2_uc003wid.3_Splice_Site_p.L180_splice|KCNH2_uc003wie.3_Splice_Site_p.L520_splice	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	520					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGCCCGATCAGCTGGGGGAC	0.667000													3	37					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55664157	55664157	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:55664157A>G	uc002acy.3	-	12	1957	c.540T>C	c.(538-540)gcT>gcC	p.A180A	CCPG1_uc002acu.2_Silent_p.A36A|CCPG1_uc002acz.2_Silent_p.A180A|CCPG1_uc002acw.2_5'UTR|CCPG1_uc002acx.3_Silent_p.A180A|CCPG1_uc010bfk.2_Silent_p.A180A|CCPG1_uc002acv.2_Silent_p.A180A	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	180	Interaction with MCF2L and SRC (By similarity).|Poly-Arg.				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCTTCTTCCTAGCACGGCGTC	0.433000													3	46					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815344	43815344	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr15:43815344C>G	uc001zrt.3	+	3	2140	c.1673C>G	c.(1672-1674)cCa>cGa	p.P558R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	558						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGATAAGCCATTCCCTCTA	0.537000													53	48					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180381672	180381672	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr3:180381672C>G	uc010hxe.3	-	1	308	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	65					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGAGAGCTCTTGCTTAACA	0.353000													15	44					0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107510105	107510105	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr9:107510105C>T	uc004bch.1	+	0	137	c.32C>T	c.(31-33)gCg>gTg	p.A11V	NIPSNAP3B_uc011lvt.2_Missense_Mutation_p.A11V|NIPSNAP3B_uc011lvu.1_Missense_Mutation_p.A11V	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	11										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						CTGACTCGGGCGCTGGCCTCA	0.682000													6	15					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122881412	122881412	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr5:122881412A>G	uc003ktl.3	+	1	774	c.55A>G	c.(55-57)Agt>Ggt	p.S19G	CSNK1G3_uc003ktn.3_Missense_Mutation_p.S19G|CSNK1G3_uc003ktm.3_Missense_Mutation_p.S19G|CSNK1G3_uc003kto.3_Missense_Mutation_p.S19G|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Missense_Mutation_p.S19G	NM_001044723	NP_001038188	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 4, mRNA.	19					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GGCACGACCTAGTGGTCGATC	0.403000													3	26					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169374416	169374416	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:169374416T>C	uc021xuh.1	-	6	965	c.855A>G	c.(853-855)ctA>ctG	p.L285L	DDX60L_uc003irq.4_Silent_p.L285L|DDX60L_uc003irr.1_Silent_p.L285L|DDX60L_uc003irs.1_Silent_p.L12L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	285							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCTGCAGGGATAGGCAATTAC	0.463000													11	16					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743819	23743819	+	Silent	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr1:23743819T>C	uc021oig.1	-	3	438	c.303A>G	c.(301-303)aaA>aaG	p.K101K	TCEA3_uc021oih.1_Silent_p.K80K|TCEA3_uc010ody.1_Silent_p.K64K	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	101					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACTCAAGccctttttccttct	0.473000													3	123					0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2276472	2276472	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:2276472G>A	uc002lvn.2	-	3	729	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	210								p.A210E(2)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGTCCGCCCCGGGCTT	0.706000													4	22					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587101	56587101	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr18:56587101A>T	uc002lho.3	+	3	2129	c.1582A>T	c.(1582-1584)Aac>Tac	p.N528Y	ZNF532_uc002lhp.3_Missense_Mutation_p.N526Y|ZNF532_uc010xeg.2_Missense_Mutation_p.N528Y|ZNF532_uc002lhr.3_Missense_Mutation_p.N526Y|ZNF532_uc002lhs.3_Missense_Mutation_p.N526Y	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCAACCTTAACCTTTTGCC	0.542000													4	45					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3023813	3023813	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr11:3023813C>T	uc001lxf.3	-	20	2319	c.2235G>A	c.(2233-2235)agG>agA	p.R745R	CARS_uc009ydu.3_Intron|CARS_uc010qxo.2_Silent_p.R745R|CARS_uc001lxe.3_Silent_p.R652R|CARS_uc001lxg.3_Silent_p.R662R|CARS_uc001lxh.3_Silent_p.R662R|CARS_uc010qxp.2_Silent_p.R675R	NM_001014437	NP_001014437	P49589	SYCC_HUMAN	Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA.	662					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTCTTCTTCCTCTTCTCCT	0.557000			T	ALK	ALCL								46	235					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101719214	101719214	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr8:101719214T>C	uc003yjs.1	-	9	1852	c.1348A>G	c.(1348-1350)Atg>Gtg	p.M450V	PABPC1_uc011lhc.1_Missense_Mutation_p.M418V|PABPC1_uc011lhd.1_Missense_Mutation_p.M405V|PABPC1_uc003yjt.1_Missense_Mutation_p.M447V|PABPC1_uc003yju.2_Intron	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	450					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCGGGCATATTTTGGAAT	0.438000													3	48					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1949958	1949958	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr12:1949958G>A	uc021qsx.1	-	25	2729	c.2498C>T	c.(2497-2499)aCg>aTg	p.T833M	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T697M|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	833						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGTGCTTGCCGTCACCACCAT	0.597000													37	37					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76886950	76886950	+	Silent	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr4:76886950A>G	uc003hje.4	-	12	1190	c.1071T>C	c.(1069-1071)gcT>gcC	p.A357A	SDAD1_uc003hjf.4_Silent_p.A260A|SDAD1_uc011cbr.2_Silent_p.A320A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	357					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGCTTGTGCAGCAAACAGAA	0.473000													29	79					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:19378084G>T	uc010tkp.2	+	0	491	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488000													19	123					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467090	56467090	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:56467090G>A	uc002qmh.3	+	2	1737	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	NLRP8_uc010etg.3_Missense_Mutation_p.G556R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	556						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTCACATGGGACTTTTCTT	0.463000													31	37					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038119	16038119	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr19:16038119T>C	uc002nbu.2	-	4	464	c.428A>G	c.(427-429)aAg>aGg	p.K143R	CYP4F11_uc010eab.1_Missense_Mutation_p.K143R|CYP4F11_uc002nbt.2_Missense_Mutation_p.K143R	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	143					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCGGCTCCACTTGTCACCACC	0.537000													69	73					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	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				14	23					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21356155	21356155	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr22:21356155G>A	uc002ztr.1	-	1	76	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	THAP7_uc002zts.1_Missense_Mutation_p.R16C|DQ574263_uc021wlz.1_5'Flank|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGCGTCTCGCGCGTGTCCCGT	0.697000													4	2					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975172	20975172	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr16:20975172C>T	uc010vbe.2	-	52	10034	c.10034G>A	c.(10033-10035)cGc>cAc	p.R3345H	DNAH3_uc010vbd.2_Missense_Mutation_p.R780H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3345					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3345C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTACTTGATGCGCAGATTCAG	0.488000													52	86					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159519930	159519930	+	Silent	SNP	C	C	T			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr2:159519930C>T	uc002tzv.3	+	14	2810	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	PKP4_uc002tzu.3_Silent_p.L850L|PKP4_uc002tzw.3_Silent_p.L850L|PKP4_uc002tzx.3_Silent_p.L507L|PKP4_uc002uaa.3_Silent_p.L702L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.L31L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	850					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGGGTCTCTCCAGAACCTCT	0.453000										HNSCC(62;0.18)			19	29					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73537998	73537998	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr10:73537998A>G	uc001jrx.4	+	37	5501	c.5111A>G	c.(5110-5112)tAc>tGc	p.Y1704C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1707	Cadherin 16.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACGGCCGCTACACCCTGATC	0.607000													5	60					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46290580	46290580	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr20:46290580T>A	uc002xto.3	-	17	2761	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	SULF2_uc002xtr.3_Missense_Mutation_p.M811L|SULF2_uc002xtq.3_Missense_Mutation_p.M811L|SULF2_uc010zyd.2_Missense_Mutation_p.M90L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	811					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTCAGCTCCATGAGCTGTACG	0.532000													51	59					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693947	45693947	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A22O-01A-11D-A17V-08	TCGA-EM-A22O-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13642cf8-9840-4a7d-a26a-95f65b2c70c3	ea378b05-b95e-468d-b026-5a3b783795dc	g.chr14:45693947delT	uc001wwf.3	-	10	2302	c.1843delA	c.(1843-1845)acafs	p.T615fs		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	615					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTCAGTTGTCTCTTTAATT	0.294													25	19	---	---	---	---