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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
OXER1	165140	broad.mit.edu	37	2	42991137	42991137	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991137G>A	uc002rss.3	-	0	265	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	61	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612													0	3.08E-03	0	0	0	20	8
RASD2	23551	broad.mit.edu	37	22	35947855	35947855	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:35947855C>T	uc003anx.3	+	2	782	c.577C>T	c.(577-579)Cca>Tca	p.P193S	RASD2_uc003any.3_Missense_Mutation_p.P193S	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612													0	4.67E-03	0	0	0	34	3
CNTRL	11064	broad.mit.edu	37	9	123936008	123936008	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr9:123936008G>A	uc004bkx.1	+	39	6771	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2247	Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463													0	6.12E-03	0	0	0	108	18
NKX2-1	7080	broad.mit.edu	37	14	36988488	36988488	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:36988488C>G	uc001wtu.3	-	1	261	c.165G>C	c.(163-165)aaG>aaC	p.K55N	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	25					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC								0	9.10E-03	0	0	0	20	3
PNCK	139728	broad.mit.edu	37	X	152937598	152937598	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:152937598G>A	uc011myu.2	-	3	693	c.507C>T	c.(505-507)ctC>ctT	p.L169L	PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	86	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637													0	1.98E-03	0	0	0	22	6
IGSF22	283284	broad.mit.edu	37	11	18741432	18741432	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:18741432G>A	uc009yht.2	-	6	717	c.527C>T	c.(526-528)cCt>cTt	p.P176L	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502													0	1.98E-03	0	0	0	117	7
LOC100131496	100131496	broad.mit.edu	37	20	45947814	45947814	+	Silent	SNP	A	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr20:45947814A>G	uc010zyb.2	+	0	569	c.450A>G	c.(448-450)ggA>ggG	p.G150G	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron					Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA.																		TCCCAGGGGGAGGAGGAAGAA	0.592													0	4.67E-03	0	0	0	7	2
SLC34A2	10568	broad.mit.edu	37	4	25678361	25678361	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr4:25678361C>T	uc003grr.3	+	12	2144	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	688					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC								0	8.87E-03	0	0	0	33	20
MYO9B	4650	broad.mit.edu	37	19	17313022	17313022	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17313022G>A	uc010eak.3	+	27	4898	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1582	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562													0	1.48E-02	0	0	0	12	5
KHNYN	23351	broad.mit.edu	37	14	24900883	24900883	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:24900883C>T	uc010tpc.2	+	2	555	c.539C>T	c.(538-540)gCa>gTa	p.A180V	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	139										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	3.08E-03	0	0	0	55	8
ATG14	22863	broad.mit.edu	37	14	55848817	55848817	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:55848817G>A	uc001xbx.2	-	5	776	c.740C>T	c.(739-741)tCa>tTa	p.S247L	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	247					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532													0	1.43E-02	0	0	0	81	21
ZDHHC14	79683	broad.mit.edu	37	6	157803239	157803239	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:157803239C>T	uc003qqt.3	+	0	683	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_uc003qqs.3_Silent_p.G62G	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	62						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592													0	7.41E-03	0	0	0	36	18
ALOX12B	242	broad.mit.edu	37	17	7977036	7977036	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7977036C>T	uc002gjy.1	-	12	1955	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	565	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	4.67E-03	0	0	0	20	3
FA2H	79152	broad.mit.edu	37	16	74750252	74750252	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:74750252C>G	uc002fde.2	-	5	1108	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	344					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542													0	3.08E-03	0	0	0	42	7
OR10Q1	219960	broad.mit.edu	37	11	57995529	57995529	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr11:57995529C>T	uc010rkd.2	-	0	862	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572													0	8.36E-03	0	0	0	38	30
CREB3L3	84699	broad.mit.edu	37	19	4154971	4154971	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:4154971G>A	uc002lzl.3	+	1	219	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	35					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637													0	7.29E-03	0	0	0	63	26
FAM48A	55578	broad.mit.edu	37	13	37622068	37622068	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:37622068G>A	uc001uwk.3	-	3	293	c.45C>T	c.(43-45)gtC>gtT	p.V15V	FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	15					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CACTTTCAATGACATACTAAA	0.318													0	1.17E-03	0	0	0	52	6
PHF23	79142	broad.mit.edu	37	17	7139630	7139630	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139630G>C	uc002gfa.3	-	3	843	c.616C>G	c.(616-618)Cct>Gct	p.P206A	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	206							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582													0	4.01E-03	0	0	0	76	17
ABHD2	11057	broad.mit.edu	37	15	89659640	89659640	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:89659640G>A	uc002bnj.2	+	6	1000	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	28						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577													0	1.54E-02	0	0	0	59	34
TTBK2	146057	broad.mit.edu	37	15	43067809	43067809	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr15:43067809C>T	uc001zqo.2	-	12	1961	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	508					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502													0	1.35E-02	0	0	0	80	12
OXER1	165140	broad.mit.edu	37	2	42991084	42991084	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991084G>C	uc002rss.3	-	0	318	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	79	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627													0	6.21E-03	0	0	0	20	9
MDN1	23195	broad.mit.edu	37	6	90400467	90400467	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:90400467C>T	uc003pnn.1	-	63	10790	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3558					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517													0	1.98E-03	0	0	0	42	6
SPC25	57405	broad.mit.edu	37	2	169732647	169732647	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:169732647T>C	uc002uel.3	-	4	517	c.386A>G	c.(385-387)aAa>aGa	p.K129R		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	129	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289													0	4.67E-03	0	0	0	17	2
TYMP	1890	broad.mit.edu	37	22	50967746	50967746	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr22:50967746C>A	uc003bme.4	-	2	428	c.236G>T	c.(235-237)cGa>cTa	p.R79L	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	79					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCCCGAAGTCGGATGGCCAT	0.692													1.67E-08	1.67E-02	1.58E-08	0	1	26	13
ST8SIA1	6489	broad.mit.edu	37	12	22487068	22487068	+	Silent	SNP	A	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:22487068A>G	uc001rfo.4	-	0	581	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	33					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGAGGGCACTGGCTCCCA	0.667													0	8.36E-03	0	0	0	72	29
WHSC1L1	54904	broad.mit.edu	37	8	38205277	38205277	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:38205277G>A	uc003xli.3	-	1	931	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	138					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML								0	1.65E-02	0	0	0	79	23
PHF23	79142	broad.mit.edu	37	17	7139847	7139847	+	Silent	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr17:7139847G>C	uc002gfa.3	-	3	626	c.399C>G	c.(397-399)ctC>ctG	p.L133L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	133							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602													0	1.07E-02	0	0	0	65	11
PPP1R14C	81706	broad.mit.edu	37	6	150464574	150464574	+	Silent	SNP	G	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:150464574G>T	uc003qnt.3	+	0	387	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	82					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647													1.60E-04	3.08E-03	1.57E-04	0	1	16	7
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:100547854G>A	uc004ehb.3	-	0	206	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562													0	1.44E-02	0	0	0	27	65
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	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	0.368	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				0	7.41E-03	0	0	0	53	18
KIAA0319L	79932	broad.mit.edu	37	1	35915475	35915475	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr1:35915475C>T	uc001byx.3	-	14	2604	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	782	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493													0	1.07E-02	0	0	0	44	11
TDGF1P3	6998	broad.mit.edu	37	X	109764445	109764445	+	RNA	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chrX:109764445G>A	uc004eos.1	+	0		c.906G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATTAGTTGCCGGGCTGGGCCA	0.522													0	1.35E-02	0	0	0	31	11
PPFIA3	8541	broad.mit.edu	37	19	49651468	49651468	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:49651468C>T	uc002pmr.3	+	23	3296	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	988	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612													0	3.08E-03	0	0	0	30	8
OR2C1	4993	broad.mit.edu	37	16	3405956	3405956	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr16:3405956G>C	uc002cuw.1	+	0	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463													0	6.21E-03	0	0	0	42	9
SNX31	169166	broad.mit.edu	37	8	101661544	101661544	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr8:101661544G>A	uc003yjr.3	-	1	250	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	33	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612													0	1.48E-02	0	0	0	34	4
OXER1	165140	broad.mit.edu	37	2	42991172	42991172	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr2:42991172G>A	uc002rss.3	-	0	230	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	50	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602													0	1.98E-03	0	0	0	39	6
SLC39A2	29986	broad.mit.edu	37	14	21468323	21468323	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr14:21468323C>T	uc001vyr.3	+	2	487	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_uc001vys.3_5'UTR	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	99						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463													0	4.48E-03	0	0	0	41	7
ZSCAN5B	342933	broad.mit.edu	37	19	56701879	56701879	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:56701879C>T	uc010ygh.2	-	3	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	269					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502													0	1.65E-02	0	0	0	111	24
PIBF1	10464	broad.mit.edu	37	13	73539420	73539420	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr13:73539420A>C	uc001vjc.3	+	14	2147	c.1842A>C	c.(1840-1842)agA>agC	p.R614S	PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343													0	1.35E-02	0	0	0	29	10
SWSAP1	126074	broad.mit.edu	37	19	11486194	11486194	+	Silent	SNP	C	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:11486194C>A	uc002mrg.1	+	1	229	c.192C>A	c.(190-192)atC>atA	p.I64I		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.	64																	TCTAGAAGATCCGCTTCCAGT	0.587													4.99E-43	1.44E-02	4.64E-43	0	1	134	80
MYF5	4617	broad.mit.edu	37	12	81112653	81112653	+	Silent	SNP	T	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr12:81112653T>C	uc001szg.2	+	2	726	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	197					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423													0	2.10E-02	0	0	0	60	34
MRS2	57380	broad.mit.edu	37	6	24409748	24409748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr6:24409748C>T	uc011djl.2	+	3	483	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	121					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303													0	1.98E-03	0	0	0	68	5
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:17756912C>T	uc021uqk.1	-	17	2092	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	685	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557													0	1.17E-03	0	0	0	23	5
OXER1	165140	broad.mit.edu	37	2	42991137	42991137	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991137G>A	uc002rss.3	-	0	265	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	61	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gtgagggagagaaggagggag	0.612													0	3.08E-03	0	0	0	20	8
RASD2	23551	broad.mit.edu	37	22	35947855	35947855	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr22:35947855C>T	uc003anx.3	+	2	782	c.577C>T	c.(577-579)Cca>Tca	p.P193S	RASD2_uc003any.3_Missense_Mutation_p.P193S	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	193	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGCCAAGCTGCCACACGAGAT	0.612													0	4.67E-03	0	0	0	34	3
CNTRL	11064	broad.mit.edu	37	9	123936008	123936008	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr9:123936008G>A	uc004bkx.1	+	39	6771	c.6740G>A	c.(6739-6741)cGa>cAa	p.R2247Q	CNTRL_uc004blb.1_Missense_Mutation_p.R916Q|CNTRL_uc010mvp.1_Missense_Mutation_p.R197Q	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2247	Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CGGGAAGACCGACTCAAGGTT	0.463													0	6.12E-03	0	0	0	108	18
NKX2-1	7080	broad.mit.edu	37	14	36988488	36988488	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:36988488C>G	uc001wtu.3	-	1	261	c.165G>C	c.(163-165)aaG>aaC	p.K55N	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K25N|NKX2-1_uc001wtv.3_Missense_Mutation_p.K25N|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	25					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCCACTTTCTTGTAGCTTT	0.652			A		NSCLC								0	9.10E-03	0	0	0	20	3
PNCK	139728	broad.mit.edu	37	X	152937598	152937598	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:152937598G>A	uc011myu.2	-	3	693	c.507C>T	c.(505-507)ctC>ctT	p.L169L	PNCK_uc011myt.2_Silent_p.L103L|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Silent_p.L169L|PNCK_uc011myv.2_Silent_p.L113L|PNCK_uc011myw.2_Silent_p.L113L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	86	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.L86L(1)|p.L103L(1)|p.L115L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGTAGAGGTGGGAAG	0.637													0	1.98E-03	0	0	0	22	6
IGSF22	283284	broad.mit.edu	37	11	18741432	18741432	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr11:18741432G>A	uc009yht.2	-	6	717	c.527C>T	c.(526-528)cCt>cTt	p.P176L	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	176	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTGGGAGCAGGGGGTGCCCT	0.502													0	1.98E-03	0	0	0	117	7
LOC100131496	100131496	broad.mit.edu	37	20	45947814	45947814	+	Silent	SNP	A	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr20:45947814A>G	uc010zyb.2	+	0	569	c.450A>G	c.(448-450)ggA>ggG	p.G150G	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xtg.3_5'Flank|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Intron					Homo sapiens uncharacterized LOC100131496 (LOC100131496), non-coding RNA.																		TCCCAGGGGGAGGAGGAAGAA	0.592													0	4.67E-03	0	0	0	7	2
SLC34A2	10568	broad.mit.edu	37	4	25678361	25678361	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr4:25678361C>T	uc003grr.3	+	12	2144	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	SLC34A2_uc003grs.3_Missense_Mutation_p.T687M|SLC34A2_uc010iev.3_Missense_Mutation_p.T687M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	688					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCGAATGCACGGCCTTGTAG	0.567			T	ROS1	NSCLC								0	8.87E-03	0	0	0	33	20
MYO9B	4650	broad.mit.edu	37	19	17313022	17313022	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:17313022G>A	uc010eak.3	+	27	4898	c.4746G>A	c.(4744-4746)caG>caA	p.Q1582Q	MYO9B_uc002nfi.3_Silent_p.Q1582Q|MYO9B_uc002nfj.1_Silent_p.Q1582Q|MYO9B_uc002nfl.1_Silent_p.Q131Q	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1582	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCGTGGCCAGAAGGACACCA	0.562													0	1.48E-02	0	0	0	12	5
KHNYN	23351	broad.mit.edu	37	14	24900883	24900883	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:24900883C>T	uc010tpc.2	+	2	555	c.539C>T	c.(538-540)gCa>gTa	p.A180V	KHNYN_uc001wph.4_Missense_Mutation_p.A139V|KHNYN_uc010alw.3_Missense_Mutation_p.A139V|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	139										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAGAGCTGGCAGAGCGGCTG	0.622											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	3.08E-03	0	0	0	55	8
ATG14	22863	broad.mit.edu	37	14	55848817	55848817	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:55848817G>A	uc001xbx.2	-	5	776	c.740C>T	c.(739-741)tCa>tTa	p.S247L	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S134L	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	247					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCATCGTCCTGAGAGGTAAGT	0.532													0	1.43E-02	0	0	0	81	21
ZDHHC14	79683	broad.mit.edu	37	6	157803239	157803239	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:157803239C>T	uc003qqt.3	+	0	683	c.186C>T	c.(184-186)ggC>ggT	p.G62G	ZDHHC14_uc003qqs.3_Silent_p.G62G	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	62						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GGCAGACGGGCGTCTTCTACC	0.592													0	7.41E-03	0	0	0	36	18
ALOX12B	242	broad.mit.edu	37	17	7977036	7977036	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7977036C>T	uc002gjy.1	-	12	1955	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	565	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R565R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGTGACATATCGGATCAGCTC	0.622										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	4.67E-03	0	0	0	20	3
FA2H	79152	broad.mit.edu	37	16	74750252	74750252	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr16:74750252C>G	uc002fde.2	-	5	1108	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H	FA2H_uc002fdd.2_Missense_Mutation_p.Q117H|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	344					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CACCTGACTTCTGATGTGCAA	0.542													0	3.08E-03	0	0	0	42	7
OR10Q1	219960	broad.mit.edu	37	11	57995529	57995529	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr11:57995529C>T	uc010rkd.2	-	0	862	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTCCTCATCCTCTGAGGTGC	0.572													0	8.36E-03	0	0	0	38	30
CREB3L3	84699	broad.mit.edu	37	19	4154971	4154971	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:4154971G>A	uc002lzl.3	+	1	219	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CREB3L3_uc002lzm.3_Missense_Mutation_p.G26S|CREB3L3_uc010xib.2_Missense_Mutation_p.G26S|CREB3L3_uc010xic.2_Missense_Mutation_p.G26S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	35					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGGACGGCATCCTGAG	0.637													0	7.29E-03	0	0	0	63	26
FAM48A	55578	broad.mit.edu	37	13	37622068	37622068	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr13:37622068G>A	uc001uwk.3	-	3	293	c.45C>T	c.(43-45)gtC>gtT	p.V15V	FAM48A_uc010abt.3_Silent_p.V15V|FAM48A_uc001uwg.3_Silent_p.V15V|FAM48A_uc001uwh.3_Silent_p.V15V|FAM48A_uc001uwi.3_Silent_p.V15V|FAM48A_uc001uwj.3_Silent_p.V15V|FAM48A_uc010tes.1_Silent_p.V3V|FAM48A_uc001uwl.1_Silent_p.V15V	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	15					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CACTTTCAATGACATACTAAA	0.318													0	1.17E-03	0	0	0	52	6
PHF23	79142	broad.mit.edu	37	17	7139630	7139630	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7139630G>C	uc002gfa.3	-	3	843	c.616C>G	c.(616-618)Cct>Gct	p.P206A	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.P139A|PHF23_uc010cma.3_Missense_Mutation_p.P76A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	206							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCATCCCCAGGAGTTGGCCGA	0.582													0	4.01E-03	0	0	0	76	17
ABHD2	11057	broad.mit.edu	37	15	89659640	89659640	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr15:89659640G>A	uc002bnj.2	+	6	1000	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ABHD2_uc010ups.1_Non-coding_Transcript|ABHD2_uc002bnk.2_Missense_Mutation_p.V28M	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	28						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGTGCTGTACGTGATCGTCCG	0.577													0	1.54E-02	0	0	0	59	34
TTBK2	146057	broad.mit.edu	37	15	43067809	43067809	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr15:43067809C>T	uc001zqo.2	-	12	1961	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	TTBK2_uc010bcy.2_Missense_Mutation_p.D439N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	508					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TATTCTTCATCATAGTGCCAG	0.502													0	1.35E-02	0	0	0	80	12
OXER1	165140	broad.mit.edu	37	2	42991084	42991084	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991084G>C	uc002rss.3	-	0	318	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	79	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity	p.S78fs*61(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGGCCCTCCAGAGGACCCCCC	0.627													0	6.21E-03	0	0	0	20	9
MDN1	23195	broad.mit.edu	37	6	90400467	90400467	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:90400467C>T	uc003pnn.1	-	63	10790	c.10674G>A	c.(10672-10674)agG>agA	p.R3558R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3558					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTAGAGTTCCTGCTCCTGT	0.517													0	1.98E-03	0	0	0	42	6
TYMP	1890	broad.mit.edu	37	22	50967746	50967746	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr22:50967746C>A	uc003bme.4	-	2	428	c.236G>T	c.(235-237)cGa>cTa	p.R79L	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R79L|TYMP_uc003bmc.4_Missense_Mutation_p.R79L|TYMP_uc010hbd.3_Missense_Mutation_p.R79L|TYMP_uc003bmd.4_Missense_Mutation_p.R79L|TYMP_uc011arz.1_Missense_Mutation_p.R79L	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	79					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCCCGAAGTCGGATGGCCAT	0.692													1.70E-08	1.67E-02	1.58E-08	0	1	26	13
ST8SIA1	6489	broad.mit.edu	37	12	22487068	22487068	+	Silent	SNP	A	G	G			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr12:22487068A>G	uc001rfo.4	-	0	581	c.99T>C	c.(97-99)agT>agC	p.S33S	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	33					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGAGGGCACTGGCTCCCA	0.667													0	8.36E-03	0	0	0	72	29
WHSC1L1	54904	broad.mit.edu	37	8	38205277	38205277	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr8:38205277G>A	uc003xli.3	-	1	931	c.413C>T	c.(412-414)tCg>tTg	p.S138L	WHSC1L1_uc011lbm.2_Missense_Mutation_p.S138L|WHSC1L1_uc010lwe.3_Missense_Mutation_p.S138L|WHSC1L1_uc003xlj.3_Missense_Mutation_p.S138L	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	138					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTGTGGTACCGAAGGAGGAGG	0.418			T	NUP98	AML								0	1.65E-02	0	0	0	79	23
PHF23	79142	broad.mit.edu	37	17	7139847	7139847	+	Silent	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr17:7139847G>C	uc002gfa.3	-	3	626	c.399C>G	c.(397-399)ctC>ctG	p.L133L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L66L|PHF23_uc010cma.3_Silent_p.L3L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	133							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAGAGTCCTTGAGCTTCATCT	0.602													0	1.07E-02	0	0	0	65	11
PPP1R14C	81706	broad.mit.edu	37	6	150464574	150464574	+	Silent	SNP	G	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:150464574G>T	uc003qnt.3	+	0	387	c.246G>T	c.(244-246)cgG>cgT	p.R82R		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	82					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGGAGCTTCGGAAGCGGCTGG	0.647													1.63E-04	3.08E-03	1.57E-04	0	1	16	7
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:100547854G>A	uc004ehb.3	-	0	206	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.A59A(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562													0	1.44E-02	0	0	0	27	65
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	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	0.368	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				0	7.41E-03	0	0	0	53	18
KIAA0319L	79932	broad.mit.edu	37	1	35915475	35915475	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr1:35915475C>T	uc001byx.3	-	14	2604	c.2346G>A	c.(2344-2346)gtG>gtA	p.V782V	KIAA0319L_uc001byw.3_Silent_p.V224V|KIAA0319L_uc010ohv.1_Silent_p.V424V	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	782	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACCAGGTTTCACCTCCACAG	0.493													0	1.07E-02	0	0	0	44	11
TDGF1P3	6998	broad.mit.edu	37	X	109764445	109764445	+	RNA	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chrX:109764445G>A	uc004eos.1	+	0		c.906G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		ATTAGTTGCCGGGCTGGGCCA	0.522													0	1.35E-02	0	0	0	31	11
PPFIA3	8541	broad.mit.edu	37	19	49651468	49651468	+	Silent	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:49651468C>T	uc002pmr.3	+	23	3296	c.2964C>T	c.(2962-2964)aaC>aaT	p.N988N	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.N847N|PPFIA3_uc002pmt.3_Silent_p.N127N|PPFIA3_uc002pmu.1_Silent_p.N37N	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	988	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCACCTTAACAAGAAGGAGC	0.612													0	3.08E-03	0	0	0	30	8
OR2C1	4993	broad.mit.edu	37	16	3405956	3405956	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr16:3405956G>C	uc002cuw.1	+	0	68	c.16G>C	c.(16-18)Gat>Cat	p.D6H		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CGGGGTGAATGATAGCTCCTT	0.463													0	6.21E-03	0	0	0	42	9
SNX31	169166	broad.mit.edu	37	8	101661544	101661544	+	Silent	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr8:101661544G>A	uc003yjr.3	-	1	250	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	33	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCACCCTGCAGAAGAGGAACC	0.612													0	1.48E-02	0	0	0	34	4
OXER1	165140	broad.mit.edu	37	2	42991172	42991172	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:42991172G>A	uc002rss.3	-	0	230	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	50	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						gagagagagggagatggagag	0.602													0	1.98E-03	0	0	0	39	6
SLC39A2	29986	broad.mit.edu	37	14	21468323	21468323	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr14:21468323C>T	uc001vyr.3	+	2	487	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	SLC39A2_uc001vys.3_5'UTR	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	99						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TGATTCAGCTCATGTAAGTAC	0.463													0	4.48E-03	0	0	0	41	7
ZSCAN5B	342933	broad.mit.edu	37	19	56701879	56701879	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:56701879C>T	uc010ygh.2	-	3	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	269					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGTGTGTCAGCATCCACA	0.502													0	1.65E-02	0	0	0	111	24
PIBF1	10464	broad.mit.edu	37	13	73539420	73539420	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr13:73539420A>C	uc001vjc.3	+	14	2147	c.1842A>C	c.(1840-1842)agA>agC	p.R614S	PIBF1_uc001vjb.3_Missense_Mutation_p.R614S|PIBF1_uc010aep.3_Missense_Mutation_p.R73S	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	614				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGCTTGACAGAGCCAATTCGC	0.343													0	1.35E-02	0	0	0	29	10
SPC25	57405	broad.mit.edu	37	2	169732647	169732647	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr2:169732647T>C	uc002uel.3	-	4	517	c.386A>G	c.(385-387)aAa>aGa	p.K129R		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	129	Interaction with the N-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						CTGCAGCCTTTTCAACCTCTC	0.289													0	4.67E-03	0	0	0	17	2
SWSAP1	126074	broad.mit.edu	37	19	11486194	11486194	+	Silent	SNP	C	A	A			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:11486194C>A	uc002mrg.1	+	1	229	c.192C>A	c.(190-192)atC>atA	p.I64I		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.	64																	TCTAGAAGATCCGCTTCCAGT	0.587													5.07E-43	1.44E-02	4.64E-43	0	1	134	80
MYF5	4617	broad.mit.edu	37	12	81112653	81112653	+	Silent	SNP	T	C	C			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr12:81112653T>C	uc001szg.2	+	2	726	c.591T>C	c.(589-591)gaT>gaC	p.D197D		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	197					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGCCACAGATAAAAACTCCT	0.423													0	2.10E-02	0	0	0	60	34
MRS2	57380	broad.mit.edu	37	6	24409748	24409748	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr6:24409748C>T	uc011djl.2	+	3	483	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MRS2_uc003nea.3_Nonsense_Mutation_p.Q121*|MRS2_uc003neb.3_Nonsense_Mutation_p.Q121*|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Intron	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	121					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTTGAGATTTCAGCATGTAAT	0.303													0	1.98E-03	0	0	0	68	5
UNC13A	23025	broad.mit.edu	37	19	17756912	17756912	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:17756912C>T	uc021uqk.1	-	17	2092	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	685	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.A685T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AAGCCCTGGGCGCAGACCACT	0.557													0	1.17E-03	0	0	0	23	5
RAB11FIP2	22841	broad.mit.edu	37	10	119798740	119798740	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr10:119798740delC	uc001ldj.2	-	2	1448	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.M336fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	336					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																		70	32
SIRT2	22933	broad.mit.edu	37	19	39370317	39370317	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	055f269a-df3a-4063-a414-59e6a33cbba2	g.chr19:39370317delA	uc002ojt.2	-	13	1243	c.902delT	c.(901-903)atgfs	p.M301fs	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	301	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																		4	2
RAB11FIP2	22841	broad.mit.edu	37	10	119798740	119798740	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr10:119798740delC	uc001ldj.2	-	2	1448	c.1008delG	c.(1006-1008)atgfs	p.M336fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.M336fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	336					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	p.S335N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		AAAATAAATTCATGCTGCTGT	0.343																		70	32
SIRT2	22933	broad.mit.edu	37	19	39370317	39370317	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BJ-A2NA-01A-12D-A19J-08	TCGA-BJ-A2NA-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fb47f70-88d5-4b3e-821e-cee5eb717471	c88a3e4d-4316-4bc3-b2fa-0ac3dd76e558	g.chr19:39370317delA	uc002ojt.2	-	13	1243	c.902delT	c.(901-903)atgfs	p.M301fs	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Frame_Shift_Del_p.M264fs|SIRT2_uc002ojs.2_Frame_Shift_Del_p.M281fs|SIRT2_uc002oju.2_Frame_Shift_Del_p.M264fs|SIRT2_uc010egh.2_Intron|SIRT2_uc002ojv.2_Frame_Shift_Del_p.M299fs	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	301	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCGAGGCCCATAATCATCCC	0.652																		4	2
