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
OLFM3	118427	broad.mit.edu	37	1	102271652	102271652	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:102271652C>G	ENST00000370103.4	-	5	892	c.679G>C	c.(679-681)Gca>Cca	p.A227P	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.A247P|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	247	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTCTCAGATGCTAAAGGGTCT	0.398000													15	135					0	0	0.557998	0	0
HPS3	84343	broad.mit.edu	37	3	148871395	148871395	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:148871395G>A	ENST00000296051.2	+	7	1500	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	HPS3_ENST00000460120.1_Missense_Mutation_p.E289K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	454						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCAGAACCTGAAGCCATTCC	0.438000									Hermansky-Pudlak syndrome				20	57					0	0	0.624587	0	0
PCSK5	5125	broad.mit.edu	37	9	78937994	78937994	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:78937994G>A	ENST00000545128.1	+	31	4586	c.4048G>A	c.(4048-4050)Gat>Aat	p.D1350N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	764					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTTCCTGCACGATGATATGTG	0.562000													4	9					0	0	0.184627	0	0
CACNA1C	775	broad.mit.edu	37	12	2760832	2760832	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:2760832C>T	ENST00000399655.1	+	32	4237	c.3972C>T	c.(3970-3972)tcC>tcT	p.S1324S	CACNA1C_ENST00000399644.1_Silent_p.S1324S|CACNA1C_ENST00000399617.1_Silent_p.S1324S|CACNA1C_ENST00000344100.3_Silent_p.S1346S|CACNA1C_ENST00000399597.1_Silent_p.S1324S|CACNA1C_ENST00000399603.1_Silent_p.S1324S|CACNA1C_ENST00000402845.3_Silent_p.S1324S|CACNA1C_ENST00000335762.5_Silent_p.S1349S|CACNA1C_ENST00000399606.1_Silent_p.S1344S|CACNA1C_ENST00000399621.1_Silent_p.S1324S|CACNA1C_ENST00000399634.1_Silent_p.S1324S|CACNA1C_ENST00000399641.1_Silent_p.S1324S|CACNA1C_ENST00000406454.3_Silent_p.S1324S|CACNA1C_ENST00000399629.1_Silent_p.S1341S|CACNA1C_ENST00000399637.1_Silent_p.S1324S|CACNA1C_ENST00000399601.1_Silent_p.S1324S|CACNA1C_ENST00000399591.1_Silent_p.S1313S|CACNA1C_ENST00000327702.7_Silent_p.S1324S|CACNA1C_ENST00000347598.4_Silent_p.S1372S|CACNA1C_ENST00000399595.1_Silent_p.S1313S|CACNA1C_ENST00000399638.1_Silent_p.S1352S|CACNA1C_ENST00000399649.1_Silent_p.S1311S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1372					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCGCATCTCCATCACCTTCT	0.612000													28	136					0	0	0.769981	0	0
SMTNL2	342527	broad.mit.edu	37	17	4497118	4497118	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:4497118G>C	ENST00000389313.4	+	4	799	c.732G>C	c.(730-732)gaG>gaC	p.E244D	SMTNL2_ENST00000338859.4_Splice_Site_p.E100D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	244										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTTCCACAGAGAAGAATTCCT	0.577000													10	71					0	0	0.411799	0	0
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:13826367G>A	ENST00000324750.3	+	1	825	c.603G>A	c.(601-603)ctG>ctA	p.L201L		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587000													219	623					0	0	0.870114	0	0
SRP68	6730	broad.mit.edu	37	17	74037019	74037019	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:74037019G>A	ENST00000307877.2	-	14	1726	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	SRP68_ENST00000602720.1_Missense_Mutation_p.S183L|SRP68_ENST00000539137.1_Missense_Mutation_p.S484L|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Missense_Mutation_p.S421L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	522					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCACTTCTCTGACCGCACTTG	0.582000													68	80					0	0	0.870114	0	0
SLC25A42	284439	broad.mit.edu	37	19	19216402	19216402	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19216402C>T	ENST00000318596.7	+	5	397	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	82					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACACCTACCTCAACGAGGGAT	0.627000													18	37					0	0	0.608945	0	0
ZNF19	7567	broad.mit.edu	37	16	71509173	71509173	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:71509173G>T	ENST00000288177.5	-	6	1532	c.1277C>A	c.(1276-1278)tCc>tAc	p.S426Y	ZNF19_ENST00000565637.1_Missense_Mutation_p.S384Y|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.S356Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.S426Y|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	426						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACCTAGCTGGGAAGAAGTCCC	0.453000													9	31					0.00448238	0.0045926	0.307466	1	0
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343000													3	70					0	0	0.115264	0	0
KANSL1	284058	broad.mit.edu	37	17	44144914	44144914	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:44144914C>A	ENST00000262419.6	-	5	2123		c.e5+1		KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site|KANSL1_ENST00000575318.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1							MLL1 complex	protein binding	p.?(1)									CTAAAACTTACGTGTTAATAA	0.413000													43	48					6.17242e-35	6.79781e-35	0.870114	1	0
PLCG2	5336	broad.mit.edu	37	16	81914556	81914556	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:81914556G>A	ENST00000359376.3	+	8	904	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	230					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGTTCATCCTGGGGTGAGGCA	0.537000													68	102					0	0	0.870114	0	0
SATB2	23314	broad.mit.edu	37	2	200173580	200173580	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:200173580G>A	ENST00000443023.1	-	9	2931	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	SATB2_ENST00000457245.1_Missense_Mutation_p.P548L|SATB2_ENST00000417098.1_Missense_Mutation_p.P548L|SATB2_ENST00000260926.5_Missense_Mutation_p.P548L|SATB2_ENST00000428695.1_Missense_Mutation_p.P430L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	548						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCATGCTGGGGAAGGTTCAG	0.587000													39	97					0	0	0.834066	0	0
FMN2	56776	broad.mit.edu	37	1	240286571	240286571	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:240286571C>T	ENST00000319653.9	+	2	1938	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	570					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCATGGGTCTTCTCCTTCC	0.502000													19	81					0	0	0.608945	0	0
NLRP4	147945	broad.mit.edu	37	19	56369402	56369402	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:56369402C>T	ENST00000301295.6	+	3	1065	c.643C>T	c.(643-645)Cct>Tct	p.P215S	NLRP4_ENST00000587891.1_Missense_Mutation_p.P140S|NLRP4_ENST00000346986.5_Missense_Mutation_p.P215S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	215	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCCGCTGCTCCTATAACAGA	0.537000													34	80					0	0	0.812448	0	0
ATP1A1	476	broad.mit.edu	37	1	116932065	116932065	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932065C>T	ENST00000537345.1	+	8	1122	c.759C>T	c.(757-759)acC>acT	p.T253T	ATP1A1_ENST00000295598.5_Silent_p.T253T|ATP1A1_ENST00000369496.4_Silent_p.T222T|ATP1A1_ENST00000491156.1_3'UTR	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	253					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	p.T253T(3)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTTAAGGCACCGCACGTGGTA	0.473000													46	193					0	0	0.870114	0	0
RGS14	10636	broad.mit.edu	37	5	176793178	176793178	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:176793178A>T	ENST00000408923.3	+	3	256	c.68A>T	c.(67-69)gAg>gTg	p.E23V		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	23					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCTGCAGAGCTGAGCAGC	0.682000													9	33					0	0	0.435327	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	101					0	0	0.115264	0	0
DST	667	broad.mit.edu	37	6	56473816	56473816	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:56473816G>A	ENST00000370754.5	-	39	5510	c.5511C>T	c.(5509-5511)atC>atT	p.I1837I	DST_ENST00000370769.4_Silent_p.I1659I|DST_ENST00000361203.3_Silent_p.I1659I|DST_ENST00000312431.6_Silent_p.I1659I|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Silent_p.I1333I|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	1659					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAGAACTTTGATGGCCATGG	0.438000													67	923					0	0	0.870114	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:27839778C>G	ENST00000328488.2	-	1	321	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572000													58	82					0	0	0.870114	0	0
FUT9	10690	broad.mit.edu	37	6	96651476	96651476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:96651476G>A	ENST00000302103.5	+	3	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	149					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAGTGGCATTGAGCACTTGTT	0.453000													21	29					0	0	0.654019	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													4	48					0	0	0.217242	0	0
FAM110C	642273	broad.mit.edu	37	2	46089	46089	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:46089C>T	ENST00000327669.4	-	1	296	c.297G>A	c.(295-297)tcG>tcA	p.S99S		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	99						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		AGATGATCAGCGAGTCCGGTC	0.701000													3	60					0	0	0.184627	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	63					0	0	0.115264	0	0
LYST	1130	broad.mit.edu	37	1	235952011	235952011	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:235952011G>C	ENST00000389794.3	-	13	4852	c.4678C>G	c.(4678-4680)Ctt>Gtt	p.L1560V	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L1560V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1560					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGAAAGATAAGAGTGGCATTG	0.358000													11	46					0	0	0.520397	0	0
TRPA1	8989	broad.mit.edu	37	8	72981353	72981353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:72981353G>A	ENST00000262209.4	-	3	556	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	117						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCTGAGAAGAAACTTAACG	0.413000													44	187					0	0	0.847076	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926783	130926783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:130926783C>T	ENST00000261655.4	-	8	1226	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E263K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E263K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	355	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGAGCTTCTCGATGAGGGCT	0.612000													14	72					0	0	0.539581	0	0
MKS1	54903	broad.mit.edu	37	17	56283666	56283666	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:56283666C>G	ENST00000393119.2	-	17	1640	c.1566G>C	c.(1564-1566)caG>caC	p.Q522H	MKS1_ENST00000337050.7_Intron|MKS1_ENST00000537529.2_Missense_Mutation_p.Q512H|MKS1_ENST00000313863.6_Missense_Mutation_p.R450T|MKS1_ENST00000546108.1_Missense_Mutation_p.Q319H	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	522					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAATGGAACTCTGCTGGCTGA	0.562000													52	170					0	0	0.870114	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43624988	43624988	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:43624988C>G	ENST00000332857.6	-	4	3727	c.3699G>C	c.(3697-3699)caG>caC	p.Q1233H		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTGAAACTTCTGTTTGTGCT	0.502000													86	507					0	0	0.870114	0	0
OR52E8	390079	broad.mit.edu	37	11	5878060	5878060	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:5878060G>T	ENST00000537935.1	-	1	904	c.873C>A	c.(871-873)gcC>gcA	p.A291A	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATTGAGGGCTGGTGGGA	0.423000													85	145					2.02624e-56	2.24141e-56	0.870114	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213414318	213414318	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:213414318C>G	ENST00000366960.3	+	11	1649	c.1499C>G	c.(1498-1500)tCt>tGt	p.S500C	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S203C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S288C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S488C|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	500					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGCCAGATTCTGGTTCAAGT	0.413000													19	34					0	0	0.639603	0	0
SEMA3G	56920	broad.mit.edu	37	3	52474095	52474095	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52474095G>T	ENST00000231721.2	-	11	1162	c.1163C>A	c.(1162-1164)gCa>gAa	p.A388E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	388	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCTGGCTGTGCGGTCATCTT	0.622000													15	20					1.15088e-07	1.18892e-07	0.500413	1	0
WNT6	7475	broad.mit.edu	37	2	219736442	219736442	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219736442G>A	ENST00000233948.3	+	3	754	c.537G>A	c.(535-537)ggG>ggA	p.G179G	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	179					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACTTCGGGGACGAGAAGT	0.731000													5	12					0	0	0.248553	0	0
ATP1A1	476	broad.mit.edu	37	1	116932235	116932235	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:116932235C>G	ENST00000537345.1	+	8	1292	c.929C>G	c.(928-930)tCt>tGt	p.S310C	ATP1A1_ENST00000295598.5_Missense_Mutation_p.S310C|ATP1A1_ENST00000369496.4_Missense_Mutation_p.S279C|ATP1A1_ENST00000491156.1_3'UTR	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	310					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCATCCTTTCTCTCATCCTT	0.507000													16	56					0	0	0.557998	0	0
ACHE	43	broad.mit.edu	37	7	100490233	100490233	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100490233C>T	ENST00000302913.4	-	3	1413	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	ACHE_ENST00000412389.1_Silent_p.L425L|ACHE_ENST00000411582.1_Silent_p.L425L|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000241069.5_Silent_p.L425L|ACHE_ENST00000428317.1_Silent_p.L425L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	425					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGGCCTCCCTCAGGCGTGCCG	0.697000													8	33					0	0	0.335167	0	0
ACSM4	341392	broad.mit.edu	37	12	7459281	7459281	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:7459281C>T	ENST00000399422.4	+	2	402	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	118					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ACCGTTTGGCCGTGATTCTGC	0.512000													25	11					0	0	0.760397	0	0
ANK2	287	broad.mit.edu	37	4	114284603	114284603	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:114284603G>A	ENST00000357077.4	+	40	10919	c.10866G>A	c.(10864-10866)gaG>gaA	p.E3622E	ANK2_ENST00000506722.1_Silent_p.E1528E|ANK2_ENST00000264366.6_Silent_p.E3589E|ANK2_ENST00000394537.3_Silent_p.E1537E|ANK2_ENST00000510275.2_Silent_p.E189E|ANK2_ENST00000509550.1_Silent_p.E713E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3589					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTGGCTAGAGAGGGATGGGA	0.428000													17	123					0	0	0.608945	0	0
AQR	9716	broad.mit.edu	37	15	35202345	35202345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:35202345C>T	ENST00000156471.5	-	17	1879	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	552						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCTTCCCATTCATCTTTGATG	0.368000													45	104					0	0	0.870114	0	0
NOXO1	124056	broad.mit.edu	37	16	2029448	2029448	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029448C>G	ENST00000354249.4	-	7	1162	c.793G>C	c.(793-795)Gac>Cac	p.D265H	NOXO1_ENST00000566005.1_Missense_Mutation_p.D270H|NOXO1_ENST00000397280.4_Missense_Mutation_p.D271H|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.D266H	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	271	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CAGCCGCGGTCTGACGTTTCC	0.721000													3	14					0	0	0.115264	0	0
KIFC2	90990	broad.mit.edu	37	8	145697780	145697780	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145697780C>G	ENST00000301332.2	+	15	2021	c.1644C>G	c.(1642-1644)gcC>gcG	p.A548A	KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	548	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCGCCTGGCCGTGAGGCAGG	0.657000													5	23					0	0	0.217242	0	0
APBA1	320	broad.mit.edu	37	9	72131394	72131394	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:72131394C>T	ENST00000265381.4	-	2	955	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	245	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGTCGGACTCGCCGTCGGAG	0.701000													16	27					0	0	0.608945	0	0
KRT18	3875	broad.mit.edu	37	12	53343177	53343177	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:53343177A>T	ENST00000550600.1	+	2	274	c.220A>T	c.(220-222)Atg>Ttg	p.M74L	KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388835.3_Missense_Mutation_p.M74L|KRT8_ENST00000552551.1_Intron|KRT8_ENST00000549198.1_Intron|KRT18_ENST00000388837.2_Missense_Mutation_p.M74L			P05783	K1C18_HUMAN	keratin 18	74	Head.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TCTGGCAGGAATGGGAGGCAT	0.662000													30	55					0	0	0.760397	0	0
BPTF	2186	broad.mit.edu	37	17	65942274	65942274	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:65942274C>T	ENST00000321892.4	+	23	7889	c.7828C>T	c.(7828-7830)Cac>Tac	p.H2610Y	BPTF_ENST00000335221.5_Intron|BPTF_ENST00000306378.6_Missense_Mutation_p.H2484Y|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2610					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTGCAGACTCACCAGATTCA	0.493000													19	64					0	0	0.624587	0	0
DNAJB5	25822	broad.mit.edu	37	9	34996695	34996695	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34996695C>G	ENST00000541010.1	+	2	3657	c.645C>G	c.(643-645)atC>atG	p.I215M	DNAJB5_ENST00000545841.1_Missense_Mutation_p.I215M|DNAJB5_ENST00000335998.3_Missense_Mutation_p.I249M|DNAJB5_ENST00000453597.3_Missense_Mutation_p.I329M|DNAJB5_ENST00000454002.2_Missense_Mutation_p.I287M|DNAJB5_ENST00000312316.5_Missense_Mutation_p.I215M			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	215					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACATAGTCATCAAGCGTGGCT	0.552000													11	34					0	0	0.411799	0	0
XPR1	9213	broad.mit.edu	37	1	180775611	180775611	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:180775611C>T	ENST00000367590.4	+	6	797	c.599C>T	c.(598-600)gCt>gTt	p.A200V	XPR1_ENST00000367589.3_Splice_Site_p.A200V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	200						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTCTAGGCTGTAGTGACC	0.368000													22	69					0	0	0.693898	0	0
MCM6	4175	broad.mit.edu	37	2	136603937	136603937	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:136603937C>T	ENST00000264156.2	-	15	2139	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	693					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TGATCCCGTTCACAGGAGCAG	0.443000													154	146					0	0	0.870114	0	0
UBAP2	55833	broad.mit.edu	37	9	34017107	34017107	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:34017107G>A	ENST00000379238.1	-	2	157	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.R14W|UBAP2_ENST00000360802.1_Missense_Mutation_p.R14W|UBAP2_ENST00000449054.1_Missense_Mutation_p.R14W|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	14			R -> Q (in dbSNP:rs1785506).							endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGTTTTTCCCGAGCACCTCGA	0.363000													15	80					0	0	0.539581	0	0
DOT1L	84444	broad.mit.edu	37	19	2191089	2191089	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:2191089T>A	ENST00000398665.3	+	5	379	c.343T>A	c.(343-345)Tac>Aac	p.Y115N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	115						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GCAGCAGGTCTACAACCACTC	0.642000													13	10					0	0	0.411799	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669028	64669028	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:64669028G>C	ENST00000300035.4	-	3	342	c.204C>G	c.(202-204)ttC>ttG	p.F68L	KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.F41L|KIAA0101_ENST00000558008.1_Missense_Mutation_p.F68L	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	68						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						ACAACCTAAAGAATTCTCCAA	0.403000													32	21					0	0	0.769981	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616332	140616332	+	RNA	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:140616332C>G	ENST00000526308.1	+	0	2395					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCCAGGGCATCTGGTAGACGT	0.632000													79	135					0	0	0.870114	0	0
HELZ2	85441	broad.mit.edu	37	20	62198314	62198314	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198314C>T	ENST00000467148.1	-	6	2466	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L	HELZ2_ENST00000427522.2_Silent_p.L230L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CAGCCAGATTCAGCCAGGACG	0.672000													27	131					0	0	0.779181	0	0
TNRC18	84629	broad.mit.edu	37	7	5410707	5410707	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:5410707G>A	ENST00000399537.4	-	11	3866	c.3518C>T	c.(3517-3519)cCg>cTg	p.P1173L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1173L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1173	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGAGGCGGCAGCTCTGT	0.706000													18	62					0	0	0.575678	0	0
FLG	2312	broad.mit.edu	37	1	152280743	152280743	+	Missense_Mutation	SNP	C	C	G	rs71625185		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152280743C>G	ENST00000368799.1	-	3	6654	c.6619G>C	c.(6619-6621)Ggg>Cgg	p.G2207R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2207	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATGCGACCCTGAGTGCCTA	0.572000									Ichthyosis				87	1691					0	0	0.740014	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451306	19451306	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:19451306G>C	ENST00000270570.4	+	4	401	c.315G>C	c.(313-315)ggG>ggC	p.G105G	SLC47A1_ENST00000436810.2_Silent_p.G82G|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Silent_p.G105G|SLC47A1_ENST00000575023.1_Silent_p.G105G|SLC47A1_ENST00000542886.1_Silent_p.G105G|SLC47A1_ENST00000457293.1_Silent_p.G105G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	105						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGACGTACGGGAGCCAGAACC	0.592000													23	37					0	0	0.639603	0	0
TG	7038	broad.mit.edu	37	8	133913623	133913623	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:133913623G>C	ENST00000220616.4	+	16	3499	c.3459G>C	c.(3457-3459)aaG>aaC	p.K1153N	TG_ENST00000377869.1_Missense_Mutation_p.K1153N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1153	Thyroglobulin type-1 10.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTGCTCAAGAGTGGAGTCC	0.607000													66	136					0	0	0.870114	0	0
STRADA	92335	broad.mit.edu	37	17	61787907	61787907	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:61787907G>A	ENST00000245865.5	-	7	560	c.351C>T	c.(349-351)atC>atT	p.I117I	STRADA_ENST00000392950.4_Silent_p.I138I|STRADA_ENST00000375840.4_Silent_p.I117I|STRADA_ENST00000579340.1_Silent_p.I117I|STRADA_ENST00000582137.1_Silent_p.I146I|STRADA_ENST00000336174.6_Silent_p.I175I|STRADA_ENST00000447001.3_Silent_p.I131I|RP11-51F16.8_ENST00000580553.1_Intron|STRADA_ENST00000580039.1_5'UTR			Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	175	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CCCCCTGCAGGATGTAAGCAA	0.502000													15	43					0	0	0.539581	0	0
CCDC151	115948	broad.mit.edu	37	19	11537068	11537068	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:11537068C>G	ENST00000356392.4	-	7	946	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCDC151_ENST00000586836.1_Missense_Mutation_p.E96Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E233Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E227Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	287										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						AAGGTCTCCTCTAGGTACTGC	0.622000													8	33					0	0	0.335167	0	0
AEN	64782	broad.mit.edu	37	15	89169733	89169733	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:89169733C>T	ENST00000332810.3	+	2	444	c.293C>T	c.(292-294)gCt>gTt	p.A98V	AEN_ENST00000379231.3_Missense_Mutation_p.A98V	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	98					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGAAGGCCTGCTCCCGGGAAA	0.662000													16	47					0	0	0.539581	0	0
TARS2	80222	broad.mit.edu	37	1	150460385	150460385	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150460385G>A	ENST00000369064.3	+	2	152	c.118G>A	c.(118-120)Gag>Aag	p.E40K	TARS2_ENST00000606933.1_Missense_Mutation_p.E40K|TARS2_ENST00000438568.2_Missense_Mutation_p.E40K|TARS2_ENST00000369054.2_Missense_Mutation_p.E40K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	40					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCTTTTTGAGGAGCTGTG	0.507000													38	263					0	0	0.834066	0	0
LHCGR	3973	broad.mit.edu	37	2	48925887	48925887	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48925887T>C	ENST00000294954.7	-	9	754	c.733A>G	c.(733-735)Att>Gtt	p.I245V	LHCGR_ENST00000403273.1_Missense_Mutation_p.I245V|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.I245V|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.I245V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	245					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCCTCTGAATGGACTCTAGG	0.413000													29	45					0	0	0.779181	0	0
HECTD4	283450	broad.mit.edu	37	12	112696955	112696955	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:112696955C>G	ENST00000550722.1	-	19	2945	c.2550G>C	c.(2548-2550)ctG>ctC	p.L850L	HECTD4_ENST00000430131.2_Silent_p.L564L|HECTD4_ENST00000377560.5_Silent_p.L814L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCTGAGGCATCAGGGCATCCG	0.483000													46	781					0	0	0.870114	0	0
PMM1	5372	broad.mit.edu	37	22	41982104	41982104	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982104C>T	ENST00000216259.7	-	2	265	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	61					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCCAGCTGCTCAGCGATCTTA	0.567000													53	129					0	0	0.870114	0	0
SLC44A3	126969	broad.mit.edu	37	1	95360474	95360474	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:95360474G>C	ENST00000271227.6	+	15	2060	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T	SLC44A3_ENST00000527077.1_Missense_Mutation_p.R585T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.R620T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R573T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R605T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R617T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	653						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCCATTGTGAGATAGATACCC	0.393000													23	40					0	0	0.706142	0	0
TANC1	85461	broad.mit.edu	37	2	160075859	160075859	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:160075859C>T	ENST00000263635.6	+	21	3726	c.3489C>T	c.(3487-3489)ttC>ttT	p.F1163F	TANC1_ENST00000454300.1_Silent_p.F1057F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1163						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCGTGGAATTCCTCCTTTCAA	0.512000													23	72					0	0	0.624587	0	0
CCDC108	255101	broad.mit.edu	37	2	219886644	219886644	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:219886644T>C	ENST00000341552.5	-	18	3071	c.2988A>G	c.(2986-2988)gaA>gaG	p.E996E	CCDC108_ENST00000453220.1_Silent_p.E996E|CCDC108_ENST00000441968.1_Silent_p.E996E	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	996						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCTCCTTTTCCTTTGCCT	0.597000													118	19					0	0	0.870114	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874053	48874053	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48874053C>G	ENST00000394754.1	+	8	3076	c.2962C>G	c.(2962-2964)Cat>Gat	p.H988D	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.H941D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.H988D|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.H988D|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.H284D|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.H250D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.H988D	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		941					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CACAAGCCCTCATGGGGCTCT	0.438000													14	55					0	0	0.520397	0	0
IFT43	112752	broad.mit.edu	37	14	76548711	76548711	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:76548711G>A	ENST00000314067.6	+	6	402		c.e6+1		IFT43_ENST00000238628.6_Splice_Site	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)						cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCTCCCAGGTAGGTTAAAT	0.453000													84	217					0	0	0.870114	0	0
PPEF2	5470	broad.mit.edu	37	4	76797581	76797581	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:76797581G>A	ENST00000286719.7	-	11	1535	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	393	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAGTTCCACGGAGCTCCGCA	0.657000													15	21					0	0	0.500413	0	0
SLC25A42	284439	broad.mit.edu	37	19	19217162	19217162	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:19217162C>T	ENST00000318596.7	+	6	616	c.465C>T	c.(463-465)gtC>gtT	p.V155V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	155					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGGACCTGGTCAGAGCGCGGA	0.662000													25	62					0	0	0.667858	0	0
CLTB	1212	broad.mit.edu	37	5	175823491	175823491	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:175823491G>A	ENST00000310418.4	-	5	712	c.507C>T	c.(505-507)atC>atT	p.I169I	CLTB_ENST00000345807.2_Intron	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	169					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CGTAGCCGATGATATCAGCAT	0.507000													19	32					0	0	0.608945	0	0
ITPR1	3708	broad.mit.edu	37	3	4712527	4712527	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:4712527G>C	ENST00000302640.8	+	19	2426	c.2076G>C	c.(2074-2076)gaG>gaC	p.E692D	ITPR1_ENST00000423119.2_Missense_Mutation_p.E707D|ITPR1_ENST00000443694.2_Missense_Mutation_p.E692D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E692D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E707D|ITPR1_ENST00000357086.4_Missense_Mutation_p.E707D	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	707					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAACAAAGAGATTCGCAGCA	0.517000													9	35					0	0	0.307466	0	0
AWAT2	158835	broad.mit.edu	37	X	69262998	69262998	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:69262998A>T	ENST00000276101.3	-	5	573	c.568T>A	c.(568-570)Tgc>Agc	p.C190S		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	190						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CTGTATCTGCACTCAGCCAGT	0.547000													3	6					0	0	0.150653	0	0
GGT1	2678	broad.mit.edu	37	22	25023476	25023476	+	Silent	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:25023476C>A	ENST00000400382.1	+	12	1853	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	GGT1_ENST00000400380.1_Silent_p.I366I|GGT1_ENST00000404920.1_Silent_p.I22I|GGT1_ENST00000400383.1_Silent_p.I366I|GGT1_ENST00000401885.1_Silent_p.I22I|GGT1_ENST00000403838.1_Silent_p.I22I|GGT1_ENST00000248923.4_Silent_p.I366I|GGT1_ENST00000406383.2_Silent_p.I366I|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Silent_p.I22I|GGT1_ENST00000404532.1_Silent_p.I22I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	366					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTCACCCGATCTCCTACTACA	0.642000													35	81					6.68952e-21	7.08636e-21	0.864702	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149398970	149398970	+	RNA	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:149398970G>C	ENST00000609879.1	-	0	606				HIST2H2BB_ENST00000609585.1_RNA																							TGCGCTCGAAGATGTCGTTGA	0.627000													58	249					0	0	0.870114	0	0
EID3	493861	broad.mit.edu	37	12	104697751	104697751	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:104697751C>T	ENST00000527879.1	+	1	235	c.39C>T	c.(37-39)tcC>tcT	p.S13S	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000524698.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CGGGCTGCTCCGACGACCTCA	0.662000													5	22					0	0	0.184627	0	0
ZNF80	7634	broad.mit.edu	37	3	113955575	113955575	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:113955575C>T	ENST00000482457.2	-	1	850	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	116						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTGCGACCTGCGGTTGAAGAC	0.542000													16	29					0	0	0.575678	0	0
APOB	338	broad.mit.edu	37	2	21258577	21258577	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:21258577G>A	ENST00000233242.1	-	7	824	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APOB_ENST00000399256.4_Missense_Mutation_p.R233C	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	233	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACAAGGGGCGGGTCTATGAA	0.498000													23	29					0	0	0.706142	0	0
DGCR8	54487	broad.mit.edu	37	22	20077601	20077601	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:20077601G>A	ENST00000351989.3	+	5	1555	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	DGCR8_ENST00000407755.1_Missense_Mutation_p.V376M|DGCR8_ENST00000383024.2_Missense_Mutation_p.V376M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	376	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TAGTGGGGATGTGTCCCCCGT	0.577000													7	274					0	0	0.335167	0	0
KIF2C	11004	broad.mit.edu	37	1	45226006	45226006	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:45226006C>T	ENST00000372217.1	+	14	1611	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372224.4_Silent_p.F474F|KIF2C_ENST00000372218.4_Silent_p.F433F|KIF2C_ENST00000372222.3_Silent_p.F361F			Q99661	KIF2C_HUMAN	kinesin family member 2C	474	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACGCGTGCTTCCAAATTATTC	0.527000													33	23					0	0	0.788014	0	0
CFHR2	3080	broad.mit.edu	37	1	196920122	196920122	+	Missense_Mutation	SNP	C	C	T	rs111586074		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:196920122C>T	ENST00000367415.5	+	3	494	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.R132W|CFHR2_ENST00000476712.2_Missense_Mutation_p.R116W	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 2.					extracellular region		p.R132W(1)		large_intestine(2)|ovary(1)|skin(3)	6						ATGTGTAGAACGGGGCTGGTC	0.373000													57	39					0	0	0.870114	0	0
GPT	2875	broad.mit.edu	37	8	145732224	145732224	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:145732224C>T	ENST00000394955.2	+	10	1621	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	GPT_ENST00000528431.1_Silent_p.F466F	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	466					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCTACCACTTCCGGTGAGGCC	0.637000													40	9					0	0	0.853193	0	0
DICER1	23405	broad.mit.edu	37	14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:95590756G>A	ENST00000526495.1	-	10	1444	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_ENST00000393063.1_Missense_Mutation_p.R385C|DICER1_ENST00000541352.1_Missense_Mutation_p.R385C|DICER1_ENST00000527414.1_Missense_Mutation_p.R385C|DICER1_ENST00000343455.3_Missense_Mutation_p.R385C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	385	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				39	56					0	0	0.840704	0	0
FAM46A	55603	broad.mit.edu	37	6	82459570	82459570	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:82459570C>T	ENST00000369754.3	-	3	1540	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	FAM46A_ENST00000369756.3_Missense_Mutation_p.D472N|FAM46A_ENST00000320172.6_Missense_Mutation_p.D391N			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	391										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ACATTTTGGTCAGCTAACACC	0.453000													52	10					0	0	0.870114	0	0
TXK	7294	broad.mit.edu	37	4	48082134	48082134	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:48082134T>A	ENST00000264316.4	-	11	1053	c.968A>T	c.(967-969)cAt>cTt	p.H323L	TXK_ENST00000507351.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	323	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGCTTTGAATGAGATAATTT	0.373000													8	30					0	0	0.307466	0	0
FOXN2	3344	broad.mit.edu	37	2	48602364	48602364	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:48602364G>A	ENST00000340553.3	+	7	1339	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	360					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTATGAAGATGATCCTCTTGG	0.413000													21	74					0	0	0.624587	0	0
TARS2	80222	broad.mit.edu	37	1	150459941	150459941	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150459941G>C	ENST00000369064.3	+	1	49	c.15G>C	c.(13-15)caG>caC	p.Q5H	TARS2_ENST00000606933.1_Missense_Mutation_p.Q5H|TARS2_ENST00000438568.2_Missense_Mutation_p.Q5H|TARS2_ENST00000369054.2_Missense_Mutation_p.Q5H	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	5					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCCTGTATCAGAGGTGGCGGT	0.552000													21	225					0	0	0.681144	0	0
NXF5	55998	broad.mit.edu	37	X	101095527	101095527	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:101095527T>C	ENST00000537026.1	-	10	1001	c.642A>G	c.(640-642)ctA>ctG	p.L214L	NXF5_ENST00000473265.2_Silent_p.L214L|NXF5_ENST00000361708.2_Silent_p.L214L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	214					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTCTAGCCATAGCTCTTCGA	0.577000													14	70					0	0	0.592651	0	0
TBX2	6909	broad.mit.edu	37	17	59480480	59480480	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:59480480A>G	ENST00000240328.3	+	3	1003	c.722A>G	c.(721-723)gAc>gGc	p.D241G	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	241					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CGAGCCAACGACATCCTGAAG	0.632000													32	80					0	0	0.788014	0	0
SMPD2	6610	broad.mit.edu	37	6	109763792	109763792	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:109763792G>C	ENST00000258052.3	+	6	814	c.455G>C	c.(454-456)cGt>cCt	p.R152P		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	152					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTAGCACATCGTGTGGCCCAA	0.542000													8	90					0	0	0.361761	0	0
MDN1	23195	broad.mit.edu	37	6	90529309	90529309	+	Silent	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:90529309C>A	ENST00000369393.3	-	1	133	c.18G>T	c.(16-18)ctG>ctT	p.L6L	MDN1_ENST00000428876.1_Silent_p.L6L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	6					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)		CTGCCACCTCCAGCAAGAAGT	0.662000													4	130					0.00909568	0.00928131	0.150653	1	0
FASTKD3	79072	broad.mit.edu	37	5	7861273	7861273	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:7861273G>C	ENST00000264669.5	-	6	2009	c.1873C>G	c.(1873-1875)Caa>Gaa	p.Q625E	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	625	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACAACTTGATAACCGAGT	0.348000													53	68					0	0	0.870114	0	0
ZNF226	7769	broad.mit.edu	37	19	44681738	44681738	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44681738A>G	ENST00000590089.1	+	7	2690	c.2323A>G	c.(2323-2325)Aga>Gga	p.R775G	ZNF226_ENST00000337433.5_Missense_Mutation_p.R775G|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.R775G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTTCATCACAGAATCCATGT	0.368000													5	56					0	0	0.184627	0	0
PHF12	57649	broad.mit.edu	37	17	27237353	27237353	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27237353G>A	ENST00000577226.1	-	11	2596	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.I750I			Q96QT6	PHF12_HUMAN	PHD finger protein 12	750					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAGAAACTTGATCAGCTTCT	0.493000													103	5					0	0	0.870114	0	0
VPS33A	65082	broad.mit.edu	37	12	122723263	122723263	+	Silent	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:122723263A>G	ENST00000267199.4	-	10	1285	c.1173T>C	c.(1171-1173)aaT>aaC	p.N391N	RP11-512M8.5_ENST00000535844.1_Silent_p.N352N	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	391					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CCTCAATGTAATTGTTGACCT	0.378000													53	114					0	0	0.870114	0	0
C2CD4B	388125	broad.mit.edu	37	15	62456210	62456210	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:62456210G>A	ENST00000380392.3	-	2	1102	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	325	C2.					nucleus				skin(1)	1						CTCGTCTTCCGAGAGGCCGTC	0.716000													5	12					0	0	0.248553	0	0
CDSN	1041	broad.mit.edu	37	6	31084799	31084799	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:31084799G>C	ENST00000376288.2	-	2	619	c.593C>G	c.(592-594)tCt>tGt	p.S198C	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	198	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGTCTGGGAAGAGGAAGAGCT	0.572000													11	106					0	0	0.870114	0	0
PHF12	57649	broad.mit.edu	37	17	27254016	27254016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:27254016C>T	ENST00000577226.1	-	3	660	c.314G>A	c.(313-315)cGc>cAc	p.R105H	PHF12_ENST00000268756.3_Missense_Mutation_p.R105H|RP11-20B24.5_ENST00000582631.1_RNA|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000332830.4_Missense_Mutation_p.R105H			Q96QT6	PHF12_HUMAN	PHD finger protein 12	105	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.R105P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TACCTTTCGGCGAACAGTGCA	0.493000													23	125					0	0	0.693898	0	0
GRM5	2915	broad.mit.edu	37	11	88323888	88323888	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:88323888C>T	ENST00000418177.2	-	7	1938	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	GRM5_ENST00000305447.4_Missense_Mutation_p.R524Q|GRM5_ENST00000455756.2_Missense_Mutation_p.R524Q|GRM5_ENST00000305432.5_Missense_Mutation_p.R524Q|GRM5_ENST00000393297.1_Missense_Mutation_p.R524Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCTCCCTTTCGGATCACCTA	0.388000													28	69					0	0	0.779181	0	0
DLG5	9231	broad.mit.edu	37	10	79565534	79565534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:79565534G>A	ENST00000372391.2	-	27	5058	c.5053C>T	c.(5053-5055)Cgc>Tgc	p.R1685C	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.R1345C	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1685					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AAGGACCGGCGTGCAGCCGCT	0.552000													83	37					0	0	0.870114	0	0
KRT35	3886	broad.mit.edu	37	17	39635732	39635732	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:39635732C>G	ENST00000246639.2	-	3	620	c.488G>C	c.(487-489)cGg>cCg	p.R163P	KRT35_ENST00000393989.1_Missense_Mutation_p.R193P			Q92764	KRT35_HUMAN	keratin 35	193	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACCAGCTGCCGCAGGGACAC	0.587000													79	76					0	0	0.870114	0	0
GATA1	2623	broad.mit.edu	37	X	48650333	48650333	+	Silent	SNP	G	G	A	rs145355350		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:48650333G>A	ENST00000376670.3	+	3	414	c.303G>A	c.(301-303)acG>acA	p.T101T	GATA1_ENST00000376665.3_Silent_p.T101T	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	101					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ACGGCAAGACGGGGCTCTACC	0.612000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								38	4					0	0	0.804634	0	0
UBAP2	55833	broad.mit.edu	37	9	33943441	33943441	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:33943441G>A	ENST00000379238.1	-	15	1809	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	UBAP2_ENST00000539807.1_Silent_p.I319I|UBAP2_ENST00000418786.2_Silent_p.I511I|UBAP2_ENST00000360802.1_Silent_p.I564I|UBAP2_ENST00000449054.1_Silent_p.I564I|UBAP2_ENST00000379239.4_Silent_p.I297I|UBAP2_ENST00000379225.1_Silent_p.I197I			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	564										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATACAAGCTGATGGGAATCT	0.393000													27	60					0	0	0.729181	0	0
GBP4	115361	broad.mit.edu	37	1	89661003	89661003	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:89661003C>T	ENST00000355754.6	-	3	437	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	114						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCCAGGCCCTCGGTGTCCAGA	0.522000													55	111					0	0	0.870114	0	0
NR2C2	7182	broad.mit.edu	37	3	15045491	15045491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:15045491C>T	ENST00000425241.1	+	2	432	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	NR2C2_ENST00000393102.3_Nonsense_Mutation_p.Q24*|NR2C2_ENST00000323373.6_Nonsense_Mutation_p.Q24*|NR2C2_ENST00000406272.2_Nonsense_Mutation_p.Q24*			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	24					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGCGCATTCAGGTACCTGC	0.527000													23	129					0	0	0.706142	0	0
FPGS	2356	broad.mit.edu	37	9	130570856	130570856	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:130570856C>T	ENST00000373225.3	+	10	901	c.692C>T	c.(691-693)cCg>cTg	p.P231L	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000393706.2_Missense_Mutation_p.P255L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.P281L	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	281					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TACCTGTGTCCGATGCTGGAG	0.692000													9	20					0	0	0.411799	0	0
EXOC8	149371	broad.mit.edu	37	1	231472540	231472540	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:231472540C>T	ENST00000366645.1	-	1	1058	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	EXOC8_ENST00000360394.2_Missense_Mutation_p.E318K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	318					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTGGTTCTTCTTCTTCGTCA	0.557000													49	68					0	0	0.870114	0	0
ZNF267	10308	broad.mit.edu	37	16	31927534	31927534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:31927534C>G	ENST00000300870.10	+	4	2173	c.1964C>G	c.(1963-1965)aCt>aGt	p.T655S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	655					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGAAGTCATACTGGAGAGAGA	0.453000													3	115					0	0	0.184627	0	0
WDR44	54521	broad.mit.edu	37	X	117578414	117578414	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chrX:117578414C>G	ENST00000254029.3	+	19	2999	c.2604C>G	c.(2602-2604)aaC>aaG	p.N868K	WDR44_ENST00000371822.5_Missense_Mutation_p.N779K|WDR44_ENST00000371825.3_Missense_Mutation_p.N860K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	868						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGAAGGGAACGAGAAAAGTG	0.388000													44	52					0	0	0.859065	0	0
IGFN1	91156	broad.mit.edu	37	1	201185717	201185717	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:201185717G>A	ENST00000335211.4	+	16	9561	c.9431G>A	c.(9430-9432)gGc>gAc	p.G3144D	IGFN1_ENST00000295591.8_Missense_Mutation_p.G304D	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGCAGGCTGGCAGGAGCACT	0.657000													7	18					0	0	0.278610	0	0
STX3	6809	broad.mit.edu	37	11	59540705	59540705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540705G>A	ENST00000535361.1	+	2	599	c.52G>A	c.(52-54)Gat>Aat	p.D18N	STX3_ENST00000437946.2_5'UTR|STX3_ENST00000337979.4_Missense_Mutation_p.D18N|STX3_ENST00000300150.7_5'UTR|STX3_ENST00000529177.1_Missense_Mutation_p.D18N			Q13277	STX3_HUMAN	syntaxin 3	18					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ACAGGATGATGATACTGATGC	0.393000													73	171					0	0	0.870114	0	0
TOR1A	1861	broad.mit.edu	37	9	132584943	132584943	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:132584943C>T	ENST00000351698.4	-	2	409	c.361G>A	c.(361-363)Gag>Aag	p.E121K	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	121					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGACCACCCTCGTAAATATTC	0.488000													39	150					0	0	0.812448	0	0
OR6C74	254783	broad.mit.edu	37	12	55641322	55641322	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:55641322C>A	ENST00000343870.4	+	1	341	c.251C>A	c.(250-252)gCa>gAa	p.A84E		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GTTAGTATGGCAACAGGTGAT	0.398000													10	266					1.61879e-10	1.68624e-10	0.411799	1	0
HELZ2	85441	broad.mit.edu	37	20	62198304	62198304	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:62198304C>T	ENST00000467148.1	-	6	2476	c.2407G>A	c.(2407-2409)Gag>Aag	p.E803K	HELZ2_ENST00000427522.2_Missense_Mutation_p.E234K	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGCGCAATCTCAGCCAGATTC	0.662000													29	137					0	0	0.796494	0	0
OR2T4	127074	broad.mit.edu	37	1	248525601	248525601	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:248525601T>C	ENST00000366475.1	+	1	719	c.719T>C	c.(718-720)cTc>cCc	p.L240P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483000													14	203					0	0	0.539581	0	0
RCE1	9986	broad.mit.edu	37	11	66611253	66611253	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:66611253G>A	ENST00000309657.3	+	2	253	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	RCE1_ENST00000524506.1_Missense_Mutation_p.R70Q|RCE1_ENST00000525356.1_5'UTR	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	70					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTCATCAAGCGACGCTTCACC	0.672000													18	40					0	0	0.575678	0	0
ZFP91	80829	broad.mit.edu	37	11	58379117	58379117	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:58379117G>C	ENST00000316059.6	+	6	934	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E255Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	255	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gaaggtaaaagaagagaagga	0.403000													15	18					0	0	0.479597	0	0
ELMOD3	84173	broad.mit.edu	37	2	85604471	85604471	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:85604471G>A	ENST00000315658.7	+	9	871	c.612G>A	c.(610-612)gcG>gcA	p.A204A	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.A204A|ELMOD3_ENST00000409344.3_Silent_p.A204A|ELMOD3_ENST00000409013.3_Silent_p.A204A|ELMOD3_ENST00000428955.2_Silent_p.A204A|ELMOD3_ENST00000409890.2_Silent_p.A204A	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	204	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TTACAGGAGCGAATCCAGCCA	0.587000													12	61					0	0	0.457914	0	0
SSTR3	6753	broad.mit.edu	37	22	37603104	37603104	+	Missense_Mutation	SNP	G	G	A	rs146500640	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:37603104G>A	ENST00000328544.3	-	2	1272	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	SSTR3_ENST00000402501.1_Missense_Mutation_p.R247W	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	247					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CGCCGCCGCCGCTGGCACGAG	0.672000													16	31					0	0	0.654019	0	0
GTPBP4	23560	broad.mit.edu	37	10	1042070	1042070	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:1042070G>C	ENST00000360803.4	+	4	430	c.348G>C	c.(346-348)ctG>ctC	p.L116L	GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000545048.1_Silent_p.L69L|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	116					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATGTGCGACTGATGAAGTATG	0.413000													3	12					0	0	0.115264	0	0
SAFB2	9667	broad.mit.edu	37	19	5600272	5600272	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:5600272C>G	ENST00000252542.4	-	12	1824		c.e12-1		SAFB2_ENST00000591310.1_Splice_Site	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AATTACAGTTCTATTTAAAGA	0.413000													4	19					0	0	0.184627	0	0
ACHE	43	broad.mit.edu	37	7	100491541	100491541	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:100491541C>A	ENST00000302913.4	-	2	451	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	ACHE_ENST00000412389.1_Missense_Mutation_p.D105Y|ACHE_ENST00000411582.1_Missense_Mutation_p.D105Y|ACHE_ENST00000419336.2_Missense_Mutation_p.D105Y|ACHE_ENST00000241069.5_Missense_Mutation_p.D105Y|ACHE_ENST00000428317.1_Missense_Mutation_p.D105Y	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	105					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TATAGGGTGTCCACATATTGG	0.592000													45	167					1.81118e-26	1.95171e-26	0.870114	1	0
PRKAG1	5571	broad.mit.edu	37	12	49406886	49406886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49406886G>C	ENST00000548065.1	-	2	473	c.17C>G	c.(16-18)tCt>tGt	p.S6C	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.S6C|PRKAG1_ENST00000395170.3_5'UTR|PRKAG1_ENST00000547306.1_5'UTR|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_5'UTR			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	6					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTATCTGAAGAAATGACCTG	0.423000													38	23					0	0	0.847076	0	0
NLRP14	338323	broad.mit.edu	37	11	7064578	7064578	+	Missense_Mutation	SNP	G	G	A	rs147389856	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:7064578G>A	ENST00000299481.4	+	4	1667	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	441	NACHT.		V -> M.		cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATGACTTACGTGTTTTACAG	0.438000													63	91					0	0	0.870114	0	0
STX3	6809	broad.mit.edu	37	11	59540702	59540702	+	Translation_Start_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:59540702G>A	ENST00000300150.7	+	0	531				STX3_ENST00000437946.2_De_novo_Start_OutOfFrame|STX3_ENST00000337979.4_Missense_Mutation_p.D17N|STX3_ENST00000535361.1_Missense_Mutation_p.D17N|STX3_ENST00000529177.1_Missense_Mutation_p.D17N			Q13277	STX3_HUMAN	syntaxin 3						cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GACACAGGATGATGATACTGA	0.398000													72	168					0	0	0.870114	0	0
CENPF	1063	broad.mit.edu	37	1	214820493	214820493	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:214820493T>C	ENST00000366955.3	+	13	7748	c.7580T>C	c.(7579-7581)cTg>cCg	p.L2527P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2623	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATCAGTAGACTGAAAAATCAA	0.388000													4	56					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179413607	179413607	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:179413607C>A	ENST00000589042.1	-	339	92970	c.92746G>T	c.(92746-92748)Gca>Tca	p.A30916S	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21851S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21976S|TTN_ENST00000591111.1_Missense_Mutation_p.A29275S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22043S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28348S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29275	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTCAACTGCTTTAATTGTG	0.448000													8	52					0.335167	0.339238	0.335167	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638530	234638530	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:234638530C>T	ENST00000482026.1	+	1	777	c.758C>T	c.(757-759)tCt>tTt	p.S253F	UGT1A1_ENST00000609767.1_Missense_Mutation_p.S253F|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGTCATGCATCTGTGTGGCTG	0.507000													33	213					0	0	0.819951	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	81					0	0	0.307466	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669798	78669798	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:78669798C>G	ENST00000286627.5	-	24	3851	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q	KCNMA1_ENST00000404771.3_Missense_Mutation_p.E1025Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E1029Q|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E1028Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E967Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.E1025Q|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E994Q|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.E1008Q	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1025					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGGTACAGTTCTGTATCAGGG	0.473000													29	17					0	0	0.779181	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21948276	21948276	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:21948276C>A	ENST00000319481.3	-	3	388	c.182G>T	c.(181-183)aGa>aTa	p.R61I	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R61I|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	61					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GACCACTTGTCTGTGTCCAAA	0.318000													38	77					2.14674e-31	2.33341e-31	0.870114	1	0
KMT2D	8085	broad.mit.edu	37	12	49446856	49446856	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49446856C>T	ENST00000301067.7	-	8	954		c.e8-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCGGCACGCCTAAGGGAAGG	0.532000													47	111					0	0	0.870114	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													4	49					0	0	0.217242	0	0
DHX57	90957	broad.mit.edu	37	2	39085813	39085813	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:39085813C>G	ENST00000295373.6	-	6	1703	c.1577G>C	c.(1576-1578)cGa>cCa	p.R526P	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	526							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGTTTCATTCGGAACTGCTT	0.408000													63	295					0	0	0.870114	0	0
DHX38	9785	broad.mit.edu	37	16	72138398	72138398	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:72138398G>A	ENST00000268482.3	+	15	2533	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	675	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGGCTCGGCGCTCAGACCTG	0.612000													8	28					0	0	0.361761	0	0
FECH	2235	broad.mit.edu	37	18	55221549	55221549	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr18:55221549G>T	ENST00000262093.5	-	9	1171	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	FECH_ENST00000382873.3_Missense_Mutation_p.D346E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	340					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TTTCAATATGGTCACTGGTAA	0.453000													31	180					2.61193e-14	2.7552e-14	0.740014	1	0
TARS2	80222	broad.mit.edu	37	1	150463886	150463886	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150463886G>C	ENST00000369064.3	+	5	563	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	TARS2_ENST00000606933.1_Missense_Mutation_p.E177Q|TARS2_ENST00000438568.2_Missense_Mutation_p.R135T|TARS2_ENST00000369054.2_Missense_Mutation_p.E177Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	177					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCGGGGCTCAGAGCTGCCTGT	0.552000													34	254					0	0	0.796494	0	0
FZD1	8321	broad.mit.edu	37	7	90896136	90896136	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:90896136C>T	ENST00000287934.2	+	1	2354	c.1941C>T	c.(1939-1941)gtC>gtT	p.V647V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	647					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGACTACAGTCTGAGACCCGG	0.627000													32	89					0	0	0.796494	0	0
GIT2	9815	broad.mit.edu	37	12	110397701	110397701	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110397701G>C	ENST00000360185.4	-	12	1214	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	GIT2_ENST00000457474.2_Silent_p.L352L|GIT2_ENST00000355312.3_Silent_p.L350L|GIT2_ENST00000338373.5_Silent_p.L350L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000547815.1_Silent_p.L350L|GIT2_ENST00000551209.1_Silent_p.L349L|GIT2_ENST00000553118.1_Silent_p.L350L|GIT2_ENST00000354574.4_Silent_p.L352L|GIT2_ENST00000361006.5_Silent_p.L350L|GIT2_ENST00000356259.4_Silent_p.L350L|GIT2_ENST00000320063.9_Silent_p.L350L	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	350					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGGCGTCACTGAGAATGTCAA	0.463000													22	59					0	0	0.693898	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941116	52941116	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:52941116C>T	ENST00000371544.3	-	13	2377	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	ZCCHC11_ENST00000257177.4_Silent_p.R705R|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	705					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGCAAAATACCGATAAGCTG	0.418000													19	55					0	0	0.557998	0	0
RAD17	5884	broad.mit.edu	37	5	68684860	68684860	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:68684860G>A	ENST00000509734.1	+	11	1605		c.e11-1		RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000380774.3_Splice_Site|RAD17_ENST00000345306.6_Splice_Site|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000354312.3_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		tcttattttaGAATGGAGGAA	0.294000								Other conserved DNA damage response genes					4	34					0	0	0.150653	0	0
KMT2D	8085	broad.mit.edu	37	12	49443634	49443634	+	Missense_Mutation	SNP	G	G	A	rs112921115		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49443634G>A	ENST00000301067.7	-	11	3736	c.3737C>T	c.(3736-3738)aCg>aTg	p.T1246M		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.T973M(1)|p.T1246M(1)									ACTAACATCCGTAGAGACCCC	0.602000													97	80					0	0	0.870114	0	0
MARCH4	57574	broad.mit.edu	37	2	217124125	217124125	+	Silent	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:217124125G>T	ENST00000273067.4	-	4	2909	c.1143C>A	c.(1141-1143)atC>atA	p.I381I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	381						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGATGTGCAGGATGGTATAAG	0.627000													33	41					6.29468e-14	6.61206e-14	0.804634	1	0
ZNF813	126017	broad.mit.edu	37	19	53987047	53987047	+	Translation_Start_Site	SNP	A	A	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:53987047A>T	ENST00000396403.4	+	0	99				ZNF813_ENST00000396421.4_De_novo_Start_InFrame	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGAAACCTGGAAGAGGAAGAG	0.438000													14	52					0	0	0.539581	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150532263	150532263	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150532263G>A	ENST00000271643.4	+	18	3206	c.2970G>A	c.(2968-2970)acG>acA	p.T990T	ADAMTSL4_ENST00000369039.5_Silent_p.T1013T|ADAMTSL4_ENST00000369038.2_Silent_p.T990T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	990	TSP type-1 6.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGGGGGAACGCAGACACGGG	0.637000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	533					0	0	0.750413	0	0
SRSF9	8683	broad.mit.edu	37	12	120901878	120901878	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:120901878C>T	ENST00000229390.3	-	3	580	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	133	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCCCAGCTTCTCGCATGTGA	0.507000													45	149					0	0	0.870114	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779345	12779345	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779345C>T	ENST00000596731.1	-	3	2195	c.243G>A	c.(241-243)atG>atA	p.M81I	WDR83_ENST00000418543.3_5'UTR|CTD-2192J16.24_ENST00000597961.1_Intron|WDR83OS_ENST00000222190.5_Missense_Mutation_p.M79I	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	81						integral to membrane											TGAAGCTACTCATCATTTGCT	0.537000													19	33					0	0	0.639603	0	0
GPER1	2852	broad.mit.edu	37	7	1131766	1131766	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:1131766G>A	ENST00000397092.1	+	3	1286	c.402G>A	c.(400-402)tcG>tcA	p.S134S	GPER1_ENST00000397088.3_Silent_p.S134S|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000297469.3_Silent_p.S134S|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000401670.1_Silent_p.S134S	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	134																	CCTTCATGTCGCTCTTCCTGC	0.607000													31	118					0	0	0.796494	0	0
EXPH5	23086	broad.mit.edu	37	11	108381102	108381102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:108381102G>A	ENST00000265843.4	-	6	5242	c.5132C>T	c.(5131-5133)tCa>tTa	p.S1711L	EXPH5_ENST00000443411.1_Missense_Mutation_p.S1523L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1635L|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1704L	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1711					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCATGCTTTGATGGTGATTC	0.443000													38	94					0	0	0.804634	0	0
WDR47	22911	broad.mit.edu	37	1	109538452	109538452	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:109538452G>C	ENST00000357672.3	-	7	1732	c.1357C>G	c.(1357-1359)Caa>Gaa	p.Q453E	WDR47_ENST00000400794.3_Missense_Mutation_p.Q489E|WDR47_ENST00000361054.3_Missense_Mutation_p.Q453E|WDR47_ENST00000369965.4_Missense_Mutation_p.Q482E|WDR47_ENST00000369962.3_Missense_Mutation_p.Q481E			O94967	WDR47_HUMAN	WD repeat domain 47	481	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAAGCTTTTGAATGGACCTA	0.313000													24	78					0	0	0.639603	0	0
RIPK4	54101	broad.mit.edu	37	21	43161772	43161772	+	Silent	SNP	G	G	A	rs143300354		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr21:43161772G>A	ENST00000352483.2	-	9	1789	c.1725C>T	c.(1723-1725)aaC>aaT	p.N575N	RIPK4_ENST00000542057.1_Silent_p.N464N|RIPK4_ENST00000332512.3_Silent_p.N527N|RIPK4_ENST00000544709.1_Silent_p.N464N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	527						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGACCGAGGCGTTCTTCTCCA	0.627000													12	55					0	0	0.387290	0	0
CEP250	11190	broad.mit.edu	37	20	34063379	34063379	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:34063379C>T	ENST00000397527.1	+	15	2344	c.1624C>T	c.(1624-1626)Ctg>Ttg	p.L542L	CEP250_ENST00000342580.4_Silent_p.L542L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	542	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTCAGTGAACTGATCACTCT	0.552000													76	199					0	0	0.870114	0	0
POLR3B	55703	broad.mit.edu	37	12	106890641	106890641	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:106890641G>A	ENST00000228347.4	+	25	3151	c.2929G>A	c.(2929-2931)Gtt>Att	p.V977I	POLR3B_ENST00000539066.1_Missense_Mutation_p.V919I|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	977					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGAGGACCTCGTTCGCCATGG	0.488000													42	102					0	0	0.870114	0	0
LGALS9	3965	broad.mit.edu	37	17	25967775	25967775	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:25967775C>T	ENST00000395473.2	+	3	1777	c.309C>T	c.(307-309)ttC>ttT	p.F103F	LGALS9_ENST00000413914.2_Silent_p.F46F|LGALS9_ENST00000313648.6_Silent_p.F103F|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Silent_p.F103F|LGALS9_ENST00000302228.5_Silent_p.F103F|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	103	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACCTCTGCTTCCTGGTGCAGA	0.572000													30	57					0	0	0.740014	0	0
OR4K2	390431	broad.mit.edu	37	14	20345191	20345191	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:20345191C>T	ENST00000298642.2	+	1	801	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCATGCATCTTCATCTACA	0.408000													21	92					0	0	0.639603	0	0
ACO1	48	broad.mit.edu	37	9	32450097	32450097	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:32450097G>C	ENST00000309951.6	+	21	2796	c.2658G>C	c.(2656-2658)aaG>aaC	p.K886N	ACO1_ENST00000379923.1_Missense_Mutation_p.K886N|ACO1_ENST00000541043.1_Missense_Mutation_p.K787N	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGATCCGCAAGATGGCCAAGT	0.592000													21	42					0	0	0.624587	0	0
SPHK2	56848	broad.mit.edu	37	19	49132307	49132307	+	Silent	SNP	A	A	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49132307A>C	ENST00000443164.1	+	5	2133	c.1428A>C	c.(1426-1428)tcA>tcC	p.S476S	SPHK2_ENST00000599748.1_Silent_p.S378S|SPHK2_ENST00000599029.1_Silent_p.S378S|SPHK2_ENST00000598088.1_Silent_p.S414S|SPHK2_ENST00000600537.1_Silent_p.S355S|SPHK2_ENST00000340932.3_Silent_p.S376S|SPHK2_ENST00000245222.4_Silent_p.S414S			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	414					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		tggcccactcacccctgcatc	0.677000													5	20					0	0	0.248553	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211753	90211753	+	RNA	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:90211753C>T	ENST00000390277.2	+	0	111																											GAAGCCCCAGCGCAGCTTCTC	0.567000													62	80					0	0	0.870114	0	0
RSAD1	55316	broad.mit.edu	37	17	48561095	48561095	+	Missense_Mutation	SNP	C	C	T	rs148371199		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:48561095C>T	ENST00000258955.2	+	7	1166	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	361					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCTGGGGCTACGCACCGATGT	0.537000													12	53					0	0	0.479597	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													3	39					0	0	0.115264	0	0
TPTE2	93492	broad.mit.edu	37	13	20048104	20048104	+	Silent	SNP	A	A	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr13:20048104A>G	ENST00000400230.2	-	6	386	c.342T>C	c.(340-342)gcT>gcC	p.A114A	TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	114						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A77A(1)|p.A114A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAAGCCAATAGCTAGAGAAA	0.333000													3	77					0	0	0.115264	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508095	14508095	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:14508095G>C	ENST00000454876.2	+	7	1133	c.804G>C	c.(802-804)ccG>ccC	p.P268P	SLC6A6_ENST00000360861.3_Silent_p.P268P			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	268					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGACGCTGCCGGGCGCGGGCG	0.617000													31	41					0	0	0.796494	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032750	110032750	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:110032750G>A	ENST00000369870.3	+	8	1251	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	412										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)		GGCCACAGGCGGTAAGGACCT	0.642000													3	84					0	0	0.150653	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854476	18854476	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:18854476C>T	ENST00000266505.7	-	9	1239	c.976G>A	c.(976-978)Gta>Ata	p.V326I	PLCZ1_ENST00000541695.1_Missense_Mutation_p.V189I|PLCZ1_ENST00000538330.1_Missense_Mutation_p.V108I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V133I|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.V324I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.V131I			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	326					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AACTTTTTTACCCCTGTTTCC	0.383000													46	32					0	0	0.870114	0	0
TET1	80312	broad.mit.edu	37	10	70404903	70404903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:70404903C>T	ENST00000373644.4	+	4	2626	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	806					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCTATGAGCTCTGTTGCTACT	0.358000													29	79					0	0	0.788014	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779429	12779429	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779429C>T	ENST00000596731.1	-	3	2111	c.159G>A	c.(157-159)ctG>ctA	p.L53L	WDR83_ENST00000418543.3_5'UTR|CTD-2192J16.24_ENST00000597961.1_Intron|WDR83OS_ENST00000222190.5_Intron	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	53						integral to membrane											CACACCACTTCAGCTAGGGAA	0.522000													15	37					0	0	0.557998	0	0
HSD17B14	51171	broad.mit.edu	37	19	49334931	49334931	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:49334931C>T	ENST00000263278.4	-	5	629	c.363G>A	c.(361-363)ttG>ttA	p.L121L	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	121					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TCACCTTGGTCAAGGTGTACG	0.592000													36	95					0	0	0.827153	0	0
ZNF776	284309	broad.mit.edu	37	19	58265972	58265972	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:58265972G>C	ENST00000317178.5	+	3	1737	c.1474G>C	c.(1474-1476)Gaa>Caa	p.E492Q	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGAGTGTGGAGAATGTGGAAA	0.428000													29	68					0	0	0.750413	0	0
BBS9	27241	broad.mit.edu	37	7	33376191	33376191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:33376191G>A	ENST00000242067.6	+	10	1676	c.1155G>A	c.(1153-1155)atG>atA	p.M385I	BBS9_ENST00000354265.4_Missense_Mutation_p.M385I|BBS9_ENST00000396127.2_Missense_Mutation_p.M385I|BBS9_ENST00000355070.2_Missense_Mutation_p.M385I|BBS9_ENST00000350941.3_Missense_Mutation_p.M385I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	385					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATGTAGAAATGAAAGAACTTC	0.333000									Bardet-Biedl syndrome				4	29					0	0	0.150653	0	0
IL27RA	9466	broad.mit.edu	37	19	14150702	14150702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:14150702C>T	ENST00000263379.2	+	4	639	c.514C>T	c.(514-516)Cag>Tag	p.Q172*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	172	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCGAAGATGTCAGGAGGCGGC	0.587000													34	230					0	0	0.864702	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75488341	75488341	+	RNA	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr10:75488341C>G	ENST00000399449.3	-	0	32				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							ACAAGTAATTCTAATCTACAA	0.368000													7	22					0	0	0.335167	0	0
TRPS1	7227	broad.mit.edu	37	8	116616194	116616194	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:116616194C>G	ENST00000395715.3	-	4	2579	c.2002G>C	c.(2002-2004)Gat>Cat	p.D668H	TRPS1_ENST00000220888.5_Missense_Mutation_p.D655H|TRPS1_ENST00000519674.1_Missense_Mutation_p.D655H|TRPS1_ENST00000520276.1_Missense_Mutation_p.D659H|TRPS1_ENST00000519076.1_Missense_Mutation_p.D409H	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	655	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGCTGCCCATCCGATCCTTGC	0.463000									Langer-Giedion syndrome				15	94					0	0	0.479597	0	0
FAM120A	23196	broad.mit.edu	37	9	96214620	96214620	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:96214620C>G	ENST00000277165.6	+	1	617	c.423C>G	c.(421-423)ccC>ccG	p.P141P	FAM120A_ENST00000340893.4_Silent_p.P141P|FAM120A_ENST00000375389.3_Silent_p.P141P|FAM120AOS_ENST00000375412.5_Silent_p.T124T|FAM120A_ENST00000333936.5_Silent_p.P141P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	141						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGCCGCCCGTCTGCATGG	0.716000													6	41					0	0	0.278610	0	0
FGG	2266	broad.mit.edu	37	4	155531252	155531252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:155531252C>T	ENST00000404648.3	-	5	738	c.499G>A	c.(499-501)Gac>Aac	p.D167N	FGG_ENST00000336098.3_Missense_Mutation_p.D167N|FGG_ENST00000405164.1_Missense_Mutation_p.D167N|FGG_ENST00000407946.1_Missense_Mutation_p.D167N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	167					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGCACCGTGTCTTTGCAAGGT	0.363000													33	47					0	0	0.804634	0	0
FCRL2	79368	broad.mit.edu	37	1	157738266	157738266	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:157738266T>A	ENST00000361516.3	-	5	869	c.821A>T	c.(820-822)tAc>tTc	p.Y274F	FCRL2_ENST00000392274.3_Missense_Mutation_p.Y274F|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	274	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCTCTACAGTAATATTTGCC	0.498000													14	169					0	0	0.457914	0	0
ACACA	31	broad.mit.edu	37	17	35506883	35506883	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:35506883T>C	ENST00000353139.5	-	45	6065	c.5584A>G	c.(5584-5586)Att>Gtt	p.I1862V	ACACA_ENST00000335166.5_Missense_Mutation_p.I1747V|ACACA_ENST00000360679.3_Missense_Mutation_p.I1767V|ACACA_ENST00000394406.2_Missense_Mutation_p.I1825V|ACACA_ENST00000361253.5_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1825	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAATCCCAATGGCCCGGCAC	0.428000													26	62					0	0	0.667858	0	0
CCDC110	256309	broad.mit.edu	37	4	186380148	186380148	+	Silent	SNP	T	T	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186380148T>C	ENST00000307588.3	-	6	1668	c.1593A>G	c.(1591-1593)caA>caG	p.Q531Q	CCDC110_ENST00000510617.1_Silent_p.Q531Q|CCDC110_ENST00000393540.3_Silent_p.Q494Q	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	531						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CTAAAGAAAGTTGTATATTTT	0.269000													23	8					0	0	0.624587	0	0
FLG	2312	broad.mit.edu	37	1	152286605	152286605	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152286605C>G	ENST00000368799.1	-	3	792	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	253					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTTTGTTTTCTTCTAATAGA	0.378000									Ichthyosis				68	381					0	0	0.870114	0	0
CPD	1362	broad.mit.edu	37	17	28776730	28776730	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:28776730C>T	ENST00000225719.4	+	13	3109	c.3033C>T	c.(3031-3033)ctC>ctT	p.L1011L	CPD_ENST00000543464.2_Silent_p.L764L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1011	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAGAATTTCTCTGCCTGAACT	0.428000													124	93					0	0	0.870114	0	0
GLTP	51228	broad.mit.edu	37	12	110318126	110318126	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:110318126G>C	ENST00000318348.4	-	1	167	c.54C>G	c.(52-54)atC>atG	p.I18M	GLTP_ENST00000544393.1_Missense_Mutation_p.I18M	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	18						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GCCCGGTCTCGATCTGCTTGT	0.731000													12	24					0	0	0.520397	0	0
NOP58	51602	broad.mit.edu	37	2	203152401	203152401	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:203152401G>T	ENST00000264279.5	+	6	679	c.453G>T	c.(451-453)ttG>ttT	p.L151F		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	151					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GATATAGATTGAAGTTTAGCG	0.348000													37	119					1.51926e-22	1.62314e-22	0.870114	1	0
PIP5K1A	8394	broad.mit.edu	37	1	151205150	151205150	+	Missense_Mutation	SNP	C	C	G	rs148159537	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:151205150C>G	ENST00000409426.1	+	6	1019	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.L191V|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.L204V|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.L192V			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	204	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGGAATTTCTGCAGAAGCT	0.498000													19	152					0	0	0.667858	0	0
MED16	10025	broad.mit.edu	37	19	886012	886012	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:886012C>T	ENST00000312090.6	-	5	787	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	MED16_ENST00000395808.3_Missense_Mutation_p.V213M|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.V213M|MED16_ENST00000269814.4_Missense_Mutation_p.V213M|MED16_ENST00000589119.1_Missense_Mutation_p.V213M			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	213					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCCAGGGCCACGCGGCCGCGC	0.716000													3	18					0	0	0.115264	0	0
H6PD	9563	broad.mit.edu	37	1	9324107	9324107	+	Missense_Mutation	SNP	C	C	T	rs35863691	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:9324107C>T	ENST00000377403.2	+	5	1857	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	H6PD_ENST00000602477.1_Missense_Mutation_p.R530W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	519	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGTAGCGGCCGGTTGTTCTT	0.637000													23	233					0	0	0.639603	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551433	100551433	+	RNA	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:100551433C>A	ENST00000397112.4	-	0	1765					NR_036632.1															large_intestine(1)|lung(3)	4						ATGAGCCAGGCGCTGGCAGTG	0.622000													22	47					3.73148e-12	3.90322e-12	0.717897	1	0
KCND3	3752	broad.mit.edu	37	1	112525046	112525046	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:112525046C>T	ENST00000369697.1	-	1	372	c.303G>A	c.(301-303)ggG>ggA	p.G101G	KCND3_ENST00000302127.4_Silent_p.G101G|KCND3_ENST00000315987.2_Silent_p.G101G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	101						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTGCAGCTTCCCCGTGCGGT	0.607000													30	139					0	0	0.788014	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20302318	20302318	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:20302318C>T	ENST00000375111.3	-	6	582	c.311G>A	c.(310-312)aGa>aAa	p.R104K	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.R104K|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	104					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGACTTCTGCAGGAGTC	0.408000													10	39					0	0	0.361761	0	0
VAV2	7410	broad.mit.edu	37	9	136634579	136634579	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr9:136634579G>A	ENST00000371851.1	-	26	2689	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	VAV2_ENST00000406606.3_Intron|VAV2_ENST00000371850.3_Silent_p.L798L			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	798					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AAGCAAAGCTGAGGCCCTGAG	0.632000													5	24					0	0	0.184627	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54708314	54708314	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:54708314G>C	ENST00000355221.3	-	8	1268	c.709C>G	c.(709-711)Caa>Gaa	p.Q237E	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.Q255E|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.Q255E|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.Q215E	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	255					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TCACACATTTGAGGACTGAAT	0.403000													62	81					0	0	0.870114	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691854	8691854	+	Missense_Mutation	SNP	G	G	A	rs137962363		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:8691854G>A	ENST00000299663.3	-	3	344	c.179C>T	c.(178-180)cCt>cTt	p.P60L	CLEC4E_ENST00000545274.1_Missense_Mutation_p.P60L|CLEC4E_ENST00000446457.2_Missense_Mutation_p.P60L	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	60						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAATTCTCAGGTAGCTGAAA	0.358000													10	230					0	0	0.361761	0	0
PABPC1	26986	broad.mit.edu	37	8	101719200	101719200	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:101719200G>A	ENST00000318607.5	-	10	2490	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Silent_p.I409I|PABPC1_ENST00000522387.1_Silent_p.I422I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	454					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)			CAGCTGGGCGGATAGCACCGG	0.433000													20	120					0	0	0.592651	0	0
ANKAR	150709	broad.mit.edu	37	2	190554293	190554293	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:190554293C>G	ENST00000520309.1	+	3	730	c.642C>G	c.(640-642)atC>atG	p.I214M	ANKAR_ENST00000431575.2_Missense_Mutation_p.I143M|ANKAR_ENST00000313581.4_Missense_Mutation_p.I214M|ANKAR_ENST00000438402.2_Missense_Mutation_p.I214M|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	214						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTAATGAAATCTATGATGAAG	0.303000													28	85					0	0	0.779181	0	0
BAP1	8314	broad.mit.edu	37	3	52439230	52439230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:52439230G>A	ENST00000460680.1	-	11	1483	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	BAP1_ENST00000296288.5_Missense_Mutation_p.P320S	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	338					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V335fs*10(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCTGGAGGCTTCACCACT	0.587000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							85	106					0	0	0.870114	0	0
PLAUR	5329	broad.mit.edu	37	19	44169569	44169569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:44169569G>T	ENST00000221264.4	-	3	635	c.209C>A	c.(208-210)tCa>tAa	p.S70*	PLAUR_ENST00000340093.3_Nonsense_Mutation_p.S70*|PLAUR_ENST00000601723.1_Nonsense_Mutation_p.S70*|PLAUR_ENST00000339082.3_Nonsense_Mutation_p.S70*	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	70	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.S70*(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTCTTCTCTGAGTGGGTACA	0.542000													33	61					1.8453e-21	1.96308e-21	0.853193	1	0
NUDT4	11163	broad.mit.edu	37	12	93793095	93793095	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:93793095T>G	ENST00000337179.5	+	5	926	c.486T>G	c.(484-486)gaT>gaG	p.D162E	NUDT4_ENST00000415493.2_Missense_Mutation_p.D161E|NUDT4_ENST00000547014.1_Missense_Mutation_p.D110E|NUDT4_ENST00000549992.1_Missense_Mutation_p.D109E|NUDT4_ENST00000548662.1_Missense_Mutation_p.D109E	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	161					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CCCTTCCGGATAATAATGCCT	0.478000													8	283					0	0	0.361761	0	0
PMM1	5372	broad.mit.edu	37	22	41982185	41982185	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41982185C>G	ENST00000216259.7	-	2	184	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	34					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GCGGCCACCTCAGGGTCAATT	0.562000													43	149					0	0	0.870114	0	0
GAN	8139	broad.mit.edu	37	16	81397453	81397453	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:81397453G>A	ENST00000568107.2	+	7	1303	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CATTTTGGGAGGAGAGGATGG	0.423000													4	141					0	0	0.217242	0	0
FLG	2312	broad.mit.edu	37	1	152287125	152287125	+	Silent	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:152287125G>A	ENST00000368799.1	-	3	272	c.237C>T	c.(235-237)ttC>ttT	p.F79F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	79	EF-hand 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAACTTGAATACCATCA	0.378000									Ichthyosis				26	174					0	0	0.681144	0	0
FAM188B	84182	broad.mit.edu	37	7	30891838	30891838	+	Silent	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:30891838G>C	ENST00000265299.6	+	11	1631	c.1554G>C	c.(1552-1554)tcG>tcC	p.S518S	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	518										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTAGGGCTTCGAGAACACAGC	0.463000													18	113					0	0	0.654019	0	0
ZNF615	284370	broad.mit.edu	37	19	52496893	52496893	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:52496893G>C	ENST00000602063.1	-	6	1785	c.1436C>G	c.(1435-1437)aCt>aGt	p.T479S	ZNF615_ENST00000391795.3_Missense_Mutation_p.T484S|ZNF615_ENST00000598071.1_Missense_Mutation_p.T490S|ZNF615_ENST00000376716.5_Missense_Mutation_p.T479S|ZNF615_ENST00000594083.1_Missense_Mutation_p.T490S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTCTCTGCAGTATGAGTTCG	0.438000													3	20					0	0	0.115264	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523769	95523769	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr8:95523769G>A	ENST00000297591.5	-	13	3109	c.3034C>T	c.(3034-3036)Ctt>Ttt	p.L1012F	KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1012F|KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1012F|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1012					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTTTAAGAAGAGTGAGTGTG	0.448000													18	209					0	0	0.557998	0	0
NAV2	89797	broad.mit.edu	37	11	19735319	19735319	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:19735319C>T	ENST00000396085.1	+	1	439	c.78C>T	c.(76-78)caC>caT	p.H26H	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Silent_p.H26H|NAV2_ENST00000349880.4_Silent_p.H26H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	26						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCATCCTGCACGTgcccccgg	0.652000													20	16					0	0	0.667858	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573259	90573259	+	RNA	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:90573259G>A	ENST00000551025.1	+	0	3268							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCCATAAGTGAACATATCTT	0.423000													23	2					0	0	0.740014	0	0
STARD5	80765	broad.mit.edu	37	15	81605711	81605711	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:81605711G>T	ENST00000302824.6	-	6	553	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	176	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GGTCGGTATGGAAGAATGTGA	0.567000													42	96					1.67211e-32	1.83345e-32	0.870114	1	0
SCN9A	6335	broad.mit.edu	37	2	167056103	167056103	+	Silent	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:167056103C>T	ENST00000303354.6	-	27	5389	c.5049G>A	c.(5047-5049)gaG>gaA	p.E1683E	SCN9A_ENST00000409672.1_Silent_p.E1671E|SCN9A_ENST00000409435.1_Silent_p.E1682E|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.E1683E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1682						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGCCAAAGGTCTCAAAATTGA	0.428000													61	114					0	0	0.870114	0	0
PROX2	283571	broad.mit.edu	37	14	75330507	75330507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:75330507G>A	ENST00000556084.2	-	1	30	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	PROX2_ENST00000445876.1_Nonsense_Mutation_p.Q11*|PROX2_ENST00000556489.2_Nonsense_Mutation_p.Q11*	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		ATCTGGGGCTGAGGAGAAAGC	0.542000													22	69					0	0	0.717897	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815210	89815210	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:89815210G>A	ENST00000315948.6	-	3	491	c.347C>T	c.(346-348)tCc>tTc	p.S116F	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Silent_p.F96F	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	116					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TTCGGTCAAGGAACTGAACTT	0.398000													25	58					0	0	0.717897	0	0
FRZB	2487	broad.mit.edu	37	2	183730874	183730874	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:183730874C>T	ENST00000295113.4	-	1	1016	c.407G>A	c.(406-408)tGc>tAc	p.C136Y		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	136	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CAGCTCCTCGCAGGCCAGGTT	0.637000													9	23					0	0	0.335167	0	0
WDR83OS	51398	broad.mit.edu	37	19	12779348	12779348	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:12779348C>T	ENST00000596731.1	-	3	2192	c.240G>A	c.(238-240)atG>atA	p.M80I	WDR83_ENST00000418543.3_5'UTR|CTD-2192J16.24_ENST00000597961.1_Intron|WDR83OS_ENST00000222190.5_Missense_Mutation_p.M78I	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	80						integral to membrane											AGCTACTCATCATTTGCTTCG	0.542000													19	34					0	0	0.654019	0	0
PURB	5814	broad.mit.edu	37	7	44924070	44924070	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr7:44924070C>A	ENST00000395699.2	-	1	890	c.878G>T	c.(877-879)cGa>cTa	p.R293L		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	293					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCCACCACGTCGCTCATAAAG	0.587000													41	148					2.29192e-23	2.45914e-23	0.870114	1	0
IRX1	79192	broad.mit.edu	37	5	3600252	3600252	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:3600252C>T	ENST00000302006.3	+	2	1242	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	397						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTGGCGCTCCCCACGCCGCG	0.662000													12	63					0	0	0.479597	0	0
NOXO1	124056	broad.mit.edu	37	16	2029284	2029284	+	Silent	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr16:2029284C>G	ENST00000354249.4	-	8	1251	c.882G>C	c.(880-882)ctG>ctC	p.L294L	NOXO1_ENST00000566005.1_Silent_p.L299L|NOXO1_ENST00000397280.4_Silent_p.L300L|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Silent_p.L295L	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	300	SH3 2.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						CCGTCCCGCTCAGGAGAGCGC	0.776000													3	2					0	0	0.184627	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	107					0	0	0.217242	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													6	106					0	0	0.307466	0	0
CADM2	253559	broad.mit.edu	37	3	86115879	86115879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:86115879C>G	ENST00000383699.3	+	10	1788	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	CADM2_ENST00000407528.2_Missense_Mutation_p.I418M|CADM2_ENST00000405615.2_Missense_Mutation_p.I420M	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	418					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAGCCATTATCAATGCTGAAG	0.393000													28	36					0	0	0.717897	0	0
UGGT1	56886	broad.mit.edu	37	2	128945037	128945037	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128945037G>A	ENST00000375990.3	+	40	4822	c.4419G>A	c.(4417-4419)atG>atA	p.M1473I	UGGT1_ENST00000259253.6_Missense_Mutation_p.M1497I|UGGT1_ENST00000465836.1_3'UTR			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1497	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAATCCGATGACCAAAGAGC	0.463000													10	80					0	0	0.387290	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369198	20369198	+	RNA	SNP	C	C	G			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr19:20369198C>G	ENST00000593655.1	-	0	199																											ACATTGAAATCAAGGATCTTA	0.398000													19	48					0	0	0.608945	0	0
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)ggcfs	p.G125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.G125fs	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629													7	841	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_ENST00000307940.3_In_Frame_Del_p.E171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													9	397	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128471200	128471200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr2:128471200delG	ENST00000322313.4	-	18	3423	c.3265delC	c.(3265-3267)cggfs	p.R1089fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1089					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGGGATCCCGGGGGAAACGT	0.617													7	607	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													2	4	---	---	---	---					
SLC25A4	291	broad.mit.edu	37	4	186067010	186067011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr4:186067010_186067011insA	ENST00000281456.6	+	3	828_829	c.696_697insA	c.(697-699)actfs	p.T233fs		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	ACCCCTTTGACACTGTTCGTCG	0.520													30	12	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7372948	7372950	+	RNA	DEL	ACC	ACC	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr5:7372948_7372950delACC	ENST00000513219.1	-	0	202																											taccatcattaccaccaccacca	0.507													4	8	---	---	---	---					
FOXQ1	94234	broad.mit.edu	37	6	1313374	1313376	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:1313374_1313376delCAA	ENST00000296839.2	+	1	700_702	c.435_437delCAA	c.(433-438)atcaac>atc	p.N146del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	146					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGCGGAGATCAACGAGTACCTC	0.640													22	88	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)atgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													7	234	---	---	---	---					
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr6:127804080delT	ENST00000556132.1	-	5	2399	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	512						integral to membrane											CTGTTGAGCCTTTTTTTCAGA	0.294													13	925	---	---	---	---					
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													7	15	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46916236	46916243	+	Frame_Shift_Del	DEL	CAAGCTCG	CAAGCTCG	-	rs141108617		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:46916236_46916243delCAAGCTCG	ENST00000378623.1	-	12	1679_1686	c.1437_1444delCGAGCTTG	c.(1435-1446)cgcgagcttgtcfs	p.ELV480fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	480					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GACCAGAAGACAAGCTCGCGGCGGTGGT	0.587													11	51	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													8	274	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445070	49445070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr12:49445070delG	ENST00000301067.7	-	10	2395	c.2396delC	c.(2395-2397)cctfs	p.P799fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCAGGCTGAGGGGACAGATG	0.637													27	30	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270921	70270922	+	RNA	INS	-	-	T	rs11429169		TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr14:70270921_70270922insT	ENST00000408133.1	-	0	126_127																											CATGGATTCTCTTTTTTTTTTT	0.351													3	6	---	---	---	---					
EIF2AK4	440275	broad.mit.edu	37	15	40282508	40282508	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr15:40282508delT	ENST00000263791.5	+	16	2604	c.2561delT	c.(2560-2562)attfs	p.I854fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	854	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTGTCAACATTTTTTTGGAT	0.358													8	302	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579413	7579414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:7579413_7579414insC	ENST00000420246.2	-	4	405_406	c.273_274insG	c.(271-276)tggcccfs	p.P92fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.P92fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P92fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P92fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P92fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P92fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	92	Interaction with WWOX.		P -> A (in a sporadic cancer; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93fs*30(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.P92A(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGACAGGGGCCAGGAGGGGG	0.629		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			97	16	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60368374	60368374	+	RNA	DEL	A	A	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr17:60368374delA	ENST00000602493.1	-	0	273																											AGTAACAATTAAAAAAAAACT	0.289													6	7	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41572411	41572411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RB-01A-12D-A21Z-08	TCGA-GC-A3RB-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaf54383-4286-4416-9b18-be1081797df2	dfd4328e-f7a5-4bf9-bdf6-a8a293d14283	g.chr22:41572411delC	ENST00000263253.7	+	30	6159	c.4940delC	c.(4939-4941)gccfs	p.A1647fs	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1647	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCCGAAGAGCCCAGTGGTCC	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				27	68	---	---	---	---