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
TMCC1	23023	broad.mit.edu	37	3	129547175	129547175	+	Missense_Mutation	SNP	C	C	G	rs114855835	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:129547175C>G	uc021xdy.1	-	2	481	c.47G>C	c.(46-48)gGa>gCa	p.G16A	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	16						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATTTGCCTCCAGGATCAGG	0.403000													7	65					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080440	194080440	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:194080440A>G	uc003ftt.3	-	2	1476	c.1351T>C	c.(1351-1353)Tta>Cta	p.L451L	LRRC15_uc003ftu.3_Silent_p.L445L|LRRC15_uc021xiy.1_Silent_p.L445L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	445	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCCGTCCCTAACCTAGGCTGG	0.552000													4	38					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874127	47874127	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:47874127G>A	uc002ipm.3	+	2	395	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	KAT7_uc002ipl.2_Missense_Mutation_p.R60Q|KAT7_uc010wma.2_Intron|KAT7_uc010wmb.2_Missense_Mutation_p.R60Q|KAT7_uc010wmc.2_Intron|KAT7_uc010wmd.2_5'UTR|KAT7_uc010wme.2_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	60					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										AGTCCTGTTCGAAATCTGCAG	0.408000													15	146					0	0	1	0	0
CRBN	51185	broad.mit.edu	37	3	3214548	3214548	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:3214548C>T	uc003bpq.3	-	3	469	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CRBN_uc003bpr.3_Missense_Mutation_p.E146K|CRBN_uc011aso.2_Missense_Mutation_p.E84K	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	Homo sapiens cereblon (CRBN), transcript variant 1, mRNA.	147	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		AAATCCTGTTCTTCTCGATAG	0.363000													8	53					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55349324	55349324	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:55349324C>G	uc001cyc.1	-	1	483	c.354G>C	c.(352-354)ctG>ctC	p.L118L	DHCR24_uc010ook.1_Silent_p.L77L	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	118	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GAATGTCCATCAGGTTGATCA	0.537000													26	211					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2777179C>T	uc002wgu.3	-	7	1113	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	CPXM1_uc010gas.3_Missense_Mutation_p.E347K	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.H346Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612000													32	137					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27566241C>G	uc002rju.1	-	1	611	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	GTF3C2_uc002rjv.1_Missense_Mutation_p.E61Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.E61Q|GTF3C2_uc010eyz.2_Missense_Mutation_p.E61Q	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	61						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488000													22	189					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303881	117303881	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117303881C>T	uc001prh.1	-	28	5181	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1667					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.I1726M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTTGTCCTCGATGAGCAGC	0.562000													5	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179632801	179632801	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179632801G>A	uc021vsy.1	-	38	9470	c.9245C>T	c.(9244-9246)tCt>tTt	p.S3082F	TTN_uc021vsz.1_Missense_Mutation_p.S3036F|TTN_uc021vta.1_Missense_Mutation_p.S3036F|TTN_uc021vtb.1_Missense_Mutation_p.S3036F|TTN_uc002unb.2_Missense_Mutation_p.S3082F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3082	Ig-like 18.						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)			GTCAGGTTCAGAAACTTCACA	0.408000													7	51					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332275	46332275	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:46332275G>A	uc002pdn.3	-	13	2183	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	SYMPK_uc002pdo.1_Silent_p.L646L|SYMPK_uc002pdp.1_Silent_p.L646L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	646					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACAGGCGGATGAGGCAGTCCT	0.652000													13	86					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216918	78216918	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:78216918G>A	uc022bzl.1	+	0	901	c.901G>A	c.(901-903)Gat>Aat	p.D301N	P2RY10_uc004ede.3_Missense_Mutation_p.D301N|P2RY10_uc004edf.3_Missense_Mutation_p.D301N	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	301						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D301N(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGCCTTTTGGATCCAATTCT	0.493000													17	161					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600123	141600123	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:141600123G>A	uc010ioj.3	-	4	1096	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	275						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTTTAGGAGATTTCCTTTT	0.403000													13	118					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91779552	91779552	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:91779552G>C	uc001doa.4	-	28	3305	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.S748C|HFM1_uc001dob.4_Missense_Mutation_p.S257C|HFM1_uc010osv.1_Missense_Mutation_p.S753C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1069	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGATCTTCAGATTTAAGAGC	0.274000													5	67					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115119	15115119	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:15115119T>C	uc001int.2	+	8	1102	c.848T>C	c.(847-849)aTt>aCt	p.I283T	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.I230T	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	230					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATGCTAAAATTTACCAGCTT	0.368000													4	35					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129900912	129900912	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:129900912C>G	uc001lke.3	-	12	9387	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D	MKI67_uc001lkf.3_Missense_Mutation_p.E2704D|MKI67_uc009yav.1_Missense_Mutation_p.E2639D|MKI67_uc009yaw.1_Missense_Mutation_p.E2214D	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3064					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGTTCAGCTCTTCCGCAG	0.448000													10	92					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834847	178834847	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:178834847C>G	uc001gma.3	-	2	541	c.65G>C	c.(64-66)aGa>aCa	p.R22T	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.R22T|ANGPTL1_uc010pnc.1_5'UTR	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	22						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTGTCCACCTCTGCAATGTCC	0.383000													5	78					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224543	44224543	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44224543C>A	uc003oxd.3	-	1	220	c.84G>T	c.(82-84)ccG>ccT	p.P28P	SLC35B2_uc011dvt.2_5'UTR|SLC35B2_uc011dvu.2_Intron|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	28					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCATGACTCCGGAGGGGCTT	0.577000													18	109					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952512	44952512	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:44952512G>C	uc003coc.4	+	11	1742	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	557					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TATATTAGATGATGAGCCAGT	0.463000													6	31					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73588769	73588769	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:73588769G>A	uc003uad.1	+	0	64	c.56G>A	c.(55-57)aGa>aAa	p.R19K	EIF4H_uc011kfg.1_Missense_Mutation_p.R19K|EIF4H_uc003uae.1_Missense_Mutation_p.R19K	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	19					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGCGGCGGCAGAGGGTGAGGC	0.746000													5	22					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062596	170062596	+	Missense_Mutation	SNP	G	G	A	rs142613860		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170062596G>A	uc002ues.3	-	39	7706	c.7493C>T	c.(7492-7494)tCt>tTt	p.S2498F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2498					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGGTTAGACCCATCTTC	0.438000													19	99					0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87465580	87465580	+	Missense_Mutation	SNP	C	C	T	rs146277655		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:87465580C>T	uc003uje.3	-	11	1376	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	334					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTGCTGCCTTCGAACATTTTG	0.368000													3	30					0	0	1	0	0
C1orf35	79169	broad.mit.edu	37	1	228288913	228288913	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:228288913G>C	uc001hrx.3	-	7	805	c.711C>G	c.(709-711)tgC>tgG	p.C237W	C1orf35_uc009xew.3_Non-coding_Transcript	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN	Homo sapiens chromosome 1 open reading frame 35 (C1orf35), mRNA.	237										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642000													6	59					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008973	186008973	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:186008973G>C	uc001grq.1	+	38	6371	c.6142G>C	c.(6142-6144)Gat>Cat	p.D2048H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2048	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTTGAAAGATGGGAGTCC	0.433000													16	76					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102792941	102792941	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:102792941C>G	uc002tbq.3	+	11	1750	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	IL1R1_uc010fix.3_Missense_Mutation_p.L447V|IL1R1_uc002tbr.3_Missense_Mutation_p.L478V	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	478	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTATAATGCTCTTGTTCAGGA	0.388000													5	45					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690526	96690526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:96690526G>A	uc002svf.3	-	13	1646	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	GPAT2_uc002sve.3_Nonsense_Mutation_p.Q277*|GPAT2_uc002svd.3_Nonsense_Mutation_p.Q288*|GPAT2_uc002svg.3_Nonsense_Mutation_p.Q348*|GPAT2_uc010yuh.2_Nonsense_Mutation_p.Q404*|GPAT2_uc002svh.3_Nonsense_Mutation_p.Q475*	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	475					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCTACCTTCTGATGCTTGAAG	0.652000													22	265					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6153567	6153567	+	Missense_Mutation	SNP	C	C	T	rs146892641		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6153567C>T	uc001qnn.1	-	17	2582	c.2332G>A	c.(2332-2334)Gct>Act	p.A778T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	778	Amino-terminal.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGTTGTCAGCGGGACACACC	0.562000													16	30					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50393136G>A	uc002pqv.2	-	10	2351	c.1522C>T	c.(1522-1524)Cgc>Tgc	p.R508C	IL4I1_uc002pqt.1_Missense_Mutation_p.R499C|IL4I1_uc021uxy.1_Missense_Mutation_p.R521C|IL4I1_uc002pqu.2_Missense_Mutation_p.R521C|IL4I1_uc010eno.2_Missense_Mutation_p.R507C	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	499						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGGCGGCGCGCAGCGCCGAC	0.667000													10	30					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3656427	3656427	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:3656427C>T	uc002lyj.2	-	5	686	c.597G>A	c.(595-597)caG>caA	p.Q199Q	PIP5K1C_uc010xhq.2_Silent_p.Q199Q|PIP5K1C_uc010xhr.2_Silent_p.Q199Q	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	199	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGCAGCTTCTGCAGGAACT	0.642000													11	58					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99722494	99722494	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722494G>A	uc003uto.3	+	5	833	c.730G>A	c.(730-732)Gac>Aac	p.D244N	MBLAC1_uc003utp.3_5'Flank|MBLAC1_uc022aig.1_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	244						extracellular region		p.D244E(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAAACTTGACCGAGAAGA	0.557000													11	158					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36896496	36896496	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36896496C>T	uc002ody.1	-	3	450	c.215G>A	c.(214-216)aGa>aAa	p.R72K		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTGTCTTCTTCCTTTCCT	0.438000													7	38					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231935886	231935886	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:231935886G>A	uc010pxh.2	+	8	1871	c.1818G>A	c.(1816-1818)ctG>ctA	p.L606L	DISC1_uc010pwj.1_Silent_p.L563L|DISC1_uc010pwk.1_Intron|DISC1_uc010pwg.1_Silent_p.L563L|DISC1_uc010pwh.1_Silent_p.L529L|DISC1_uc010pwi.1_Silent_p.L529L|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Silent_p.L574L|DISC1_uc010pws.1_Intron|DISC1_uc010pwt.1_Intron|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Silent_p.L574L|DISC1_uc001huy.3_Silent_p.L574L|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Silent_p.L574L|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Silent_p.L574L|DISC1_uc010pxf.2_Silent_p.L574L|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Silent_p.L219L|DISC1_uc009xfr.3_Silent_p.L529L|DISC1_uc010pxn.1_Silent_p.L219L|DISC1_uc010pxk.1_Intron|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Silent_p.L219L|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Silent_p.L452L|DISC1_uc001huz.3_Silent_p.L574L|DISC1_uc001hva.3_Silent_p.L574L	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	574	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGCACCCTGAGGAAGAAAG	0.448000													4	51					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69103983	69103983	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:69103983C>T	uc003xxv.1	+	35	4400	c.4373C>T	c.(4372-4374)tCa>tTa	p.S1458L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1458					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGTCAAATTCACCACCAAAC	0.303000													7	23					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4050669	4050669	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:4050669C>G	uc003smx.3	+	14	2342	c.2203C>G	c.(2203-2205)Ccg>Gcg	p.P735A	SDK1_uc010kso.3_Missense_Mutation_p.P11A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	735	Fibronectin type-III 1.				cell adhesion	integral to membrane		p.P735P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCCTGACTCCGGCTCGTAC	0.572000													4	46					0	0	1	0	0
RAD52	5893	broad.mit.edu	37	12	1036411	1036411	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:1036411C>T	uc001qis.1	-	5	481	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Missense_Mutation_p.D46N|RAD52_uc001qiu.1_Missense_Mutation_p.D123N|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Missense_Mutation_p.D123N|RAD52_uc001qix.1_Missense_Mutation_p.D123N	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	123					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TAACCAACATCTTCATGATAT	0.537000								Homologous recombination					15	238					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413814	57413814	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:57413814C>T	uc001nkv.4	-	3	694	c.250G>A	c.(250-252)Gac>Aac	p.D84N	AK096335_uc001nkt.1_Intron|YPEL4_uc009ymk.3_Non-coding_Transcript	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN	Homo sapiens yippee-like 4 (Drosophila) (YPEL4), mRNA.	84						nucleolus		p.D84V(1)		lung(2)|skin(1)	3						CAGAAAATGTCAGCTACCGAG	0.567000													6	75					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94294450	94294450	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:94294450C>T	uc001kia.3	-	2	452	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	126					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGCTGTATTCATTTTCTTTA	0.368000													5	38					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370146	101370146	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:101370146G>C	uc003dve.4	-	10	3256	c.3026C>G	c.(3025-3027)tCt>tGt	p.S1009C		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAAGTGTAGATACCGATGG	0.418000													7	85					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122682819	122682819	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122682819G>C	uc003idx.1	-	4	645	c.86C>G	c.(85-87)tCt>tGt	p.S29C		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	29						extracellular region				breast(1)|lung(5)	6						AATCGCACCAGATGGCATCAG	0.423000													9	32					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:121652283G>C	uc003vjy.3	+	11	3578	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(4)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348000													10	83					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153217411	153217411	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153217411G>A	uc004fjp.3	-	19	5669	c.5141C>T	c.(5140-5142)aCt>aTt	p.T1714I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1714					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCCTCAGTGGGGAGGTG	0.652000													6	16					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131006169	131006169	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:131006169G>C	uc003kvs.1	-	14	3237	c.3095C>G	c.(3094-3096)tCt>tGt	p.S1032C	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.S1004C	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	1388	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAGCATGAGATAAATCTGA	0.418000													17	89					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	135095	135095	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrGL000192.1:135095G>C	uc010yih.1	-	18		c.3595C>G						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACACCAAGAAGATTTTCTGCA	0.443000													5	51					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815774	56815774	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56815774C>G	uc001slf.2	-	20	2719	c.2551G>C	c.(2551-2553)Gcc>Ccc	p.A851P		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	851					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCAGGTGGGCCAAGATGGCT	0.537000													5	130					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:50936947C>G	uc002lfe.2	+	19	3677	c.3061C>G	c.(3061-3063)Cga>Gga	p.R1021G	DCC_uc010xdr.1_Missense_Mutation_p.R849G|DCC_uc010dpf.2_Missense_Mutation_p.R656G	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													8	58					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180374588	180374588	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:180374588C>T	uc003mmp.3	+	3	984	c.750C>T	c.(748-750)ggC>ggT	p.G250G	BTNL8_uc003mmq.3_Silent_p.G250G|BTNL8_uc010jll.3_Silent_p.G250G|BTNL8_uc011dhg.2_Silent_p.G125G|BTNL8_uc010jlm.3_Silent_p.G134G|BTNL8_uc011dhh.2_Silent_p.G66G	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTTTGGCATTGTTGGAC	0.463000													29	224					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12401942	12401942	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:12401942G>C	uc001atv.3	+	41	8873	c.8732_splice	c.e41+1	p.R2911_splice	VPS13D_uc001atw.3_Splice_Site_p.R2886_splice|VPS13D_uc001atx.3_Splice_Site_p.R2098_splice	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2910					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACACCCACCAGGTAAGCAGTC	0.577000													11	88					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42996873	42996873	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:42996873G>C	uc003otp.1	+	6	695	c.687G>C	c.(685-687)ctG>ctC	p.L229L		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	229					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCAAGGAGCTGAAACGCAGCA	0.468000													23	256					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46293965	46293965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:46293965C>T	uc002xto.3	-	13	2305	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	SULF2_uc002xtr.3_Missense_Mutation_p.E659K|SULF2_uc002xtq.3_Missense_Mutation_p.E659K|SULF2_uc010zyd.2_5'UTR	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	659					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTCACATTCTTCTGGCCGC	0.507000													47	154					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148584	203148584	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203148584C>T	uc001gzi.2	-	9	1312	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	CHI3L1_uc001gzk.1_3'UTR|CHI3L1_uc001gzj.2_Missense_Mutation_p.A320T|CHI3L1_uc001gzl.3_Non-coding_Transcript	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	381					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TACGTTGCAGCGAGTGCATCC	0.647000													10	123					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400500	78400500	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:78400500G>T	uc001syp.3	+	7	1355	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	NAV3_uc001syo.3_Silent_p.R394R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	394						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R394R(1)|p.A393G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498000										HNSCC(70;0.22)			10	110					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063827	32063827	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32063827C>A	uc003nzl.2	-	2	2005	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	601	EGF-like 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACACCGTCCTGGCACACGC	0.647000													8	55					0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037201	44037201	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:44037201G>C	uc002xof.3	+	0	573	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	DBNDD2_uc002xnx.3_Missense_Mutation_p.E32Q|DBNDD2_uc021wei.1_Missense_Mutation_p.E32Q|DBNDD2_uc002xnz.3_Missense_Mutation_p.E32Q|DBNDD2_uc002xoa.3_Missense_Mutation_p.E32Q|DBNDD2_uc021wej.1_Missense_Mutation_p.E32Q|DBNDD2_uc002xob.3_Missense_Mutation_p.E130Q|DBNDD2_uc002xoc.3_Missense_Mutation_p.E32Q|DBNDD2_uc002xod.3_Missense_Mutation_p.E32Q|DBNDD2_uc002xog.3_Missense_Mutation_p.E134Q	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	130					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCAGAGACAGAGTTTGTCTT	0.567000													9	87					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354353	118354353	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:118354353G>A	uc001lco.1	+	4	460	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.A148T|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	148					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.A148S(4)|p.V147V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGCCCAGGTGGCCCAGATGCT	0.602000													8	26					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128741618	128741618	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:128741618G>C	uc003ifm.3	+	13	1963	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	HSPA4L_uc010iny.1_Missense_Mutation_p.Q529H|HSPA4L_uc011cgr.2_Missense_Mutation_p.Q537H	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	570					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTAAATCAGACACTTAAAA	0.338000													6	21					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072608	133072608	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:133072608C>T	uc003qdt.3	-	4	887	c.876G>A	c.(874-876)atG>atA	p.M292I	VNN2_uc003qds.3_Missense_Mutation_p.M1I|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.M239I	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	292	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACTCTGTCTTCATGTCATAAT	0.428000													14	69					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904942	33904942	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:33904942C>T	uc002hjp.3	-	0	715	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	33					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.A32V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCGGGTCTCACTGCTGTCA	0.463000													11	83					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:125396503G>A	uc001ugs.4	-	1	2273	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Silent_p.L453L|UBC_uc001ugu.1_Silent_p.L529L|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.L605L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	605	Ubiquitin-like 8.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(2)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537000													5	169					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250697	122250697	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122250697G>C	uc010inj.1	-	5	1447	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	356						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGGAGAGAAGGTTTTAT	0.373000													8	69					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20114033	20114033	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:20114033G>A	uc002rdi.3	-	26	3268	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	WDR35_uc002rdj.3_Missense_Mutation_p.H1043Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	1054								p.L1053V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGGTGAAGAGCTAAG	0.398000													8	61					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695097	40695097	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:40695097C>T	uc002hzv.3	+	5	1413	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	358			P -> L (in MPS3B).			lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGCACCAGCCGCAGTTCTGG	0.617000													19	165					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859228	77859228	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:77859228C>T	uc002ffg.1	+	2	546	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	150							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522000													14	28					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604698	31604698	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:31604698C>G	uc003nvb.4	+	27	6372	c.6123C>G	c.(6121-6123)ttC>ttG	p.F2041L	PRRC2A_uc003nvc.4_Missense_Mutation_p.F2041L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2041	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGGCCCTTCCCCGCTAGCT	0.632000													12	128					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661659	99661659	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99661659G>A	uc003uso.3	+	3	985	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZSCAN21_uc003usn.1_Intron|ZNF3_uc003usp.3_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	281					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATATGTGCTGAATGTGGCAA	0.453000													6	70					0	0	1	0	0
C7orf53	286006	broad.mit.edu	37	7	112129968	112129968	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:112129968C>T	uc011kmq.2	+	3	495	c.360C>T	c.(358-360)ctC>ctT	p.L120L	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Silent_p.L120L	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	120						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						TAAAGCGACTCAACCAACTCA	0.388000													5	169					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85642692	85642692	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:85642692G>C	uc003hpd.3	-	46	7883	c.7475C>G	c.(7474-7476)tCt>tGt	p.S2492C	WDFY3_uc003hpe.1_Missense_Mutation_p.S103C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2492						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAGGTGCAGATCGGGAGCG	0.498000													10	58					0	0	1	0	0
FAM21A	387680	broad.mit.edu	37	10	51892695	51892695	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:51892695G>A	uc001jjb.3	+	30	4098	c.4016G>A	c.(4015-4017)gGa>gAa	p.G1339E	FAM21A_uc001jja.1_Intron|FAM21A_uc010qhi.2_Missense_Mutation_p.G1318E|FAM21A_uc010qhj.2_Missense_Mutation_p.G1277E|FAM21A_uc009xoq.3_Missense_Mutation_p.G1251E	NM_001005751	NP_001005751	Q641Q2	FA21A_HUMAN	Homo sapiens family with sequence similarity 21, member A (FAM21A), mRNA.	1339					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGCCTTTGGAGGCCAGTAG	0.453000													12	47					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153595790	153595790	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153595790C>T	uc004fkk.2	-	4	1092	c.843G>A	c.(841-843)ccG>ccA	p.P281P	FLNA_uc010nuu.1_Silent_p.P281P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	281					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	p.P281P(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTTTCTTCGGGTTCAGTT	0.622000													11	88					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831655	47831655	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831655G>A	uc002zji.4	+	27	5775	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	PCNT_uc002zjj.3_Missense_Mutation_p.E1772K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1890					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCACTCTGCCGAGCTGGAGGC	0.672000													9	35					0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44030378	44030378	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44030378C>G	uc010eiu.1	-	2	417	c.350G>C	c.(349-351)gGa>gCa	p.G117A	ZNF575_uc002owq.3_5'UTR|ETHE1_uc002owp.3_Missense_Mutation_p.G117A	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	117						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GATGGAGTCTCCATCCTCAAT	0.612000													4	104					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:123909026C>T	uc001pzq.1	-	0	683	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCTGAGGTGCGGATCCGCAG	0.537000													36	85					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845718	176845718	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176845718T>G	uc001glc.3	-	20	3630	c.3418A>C	c.(3418-3420)Atc>Ctc	p.I1140L	ASTN1_uc001glb.1_Missense_Mutation_p.I1140L|ASTN1_uc001gld.1_Missense_Mutation_p.I1140L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1148	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTTCACGATCACGTCGCTT	0.582000													7	62					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831205	47831205	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831205G>C	uc002zji.4	+	27	5325	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	PCNT_uc002zjj.3_Missense_Mutation_p.E1622Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1740					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGGAAATTGAACAACTCCA	0.468000													14	95					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869526	52869526	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52869526G>C	uc002pyx.4	+	5	1301	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	ZNF610_uc002pyy.4_Missense_Mutation_p.E299Q|ZNF610_uc002pyz.4_Missense_Mutation_p.E256Q|ZNF610_uc002pza.3_Missense_Mutation_p.E299Q	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCTTTTAGAGAGTGTTCGGG	0.398000													7	30					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677668	32677668	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:32677668G>A	uc002xaf.3	-	8	1039	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	290						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTCTGCAGGATTGTGTCCG	0.473000													4	81					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589956	11589956	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:11589956C>G	uc001ash.4	+	14	3180	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1014					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.S1013N(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTTTGTGGTCTTCGGCATTA	0.647000													10	85					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6502605	6502605	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502605C>G	uc002gde.4	-	13	2483	c.2124G>C	c.(2122-2124)ttG>ttC	p.L708F	KIAA0753_uc010vtd.2_Missense_Mutation_p.L164F|KIAA0753_uc010clo.3_Missense_Mutation_p.L409F|KIAA0753_uc010vte.2_Missense_Mutation_p.L409F	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	708						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGCCATCTTTCAAATGAATAT	0.363000													5	34					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44144372G>C	uc003owt.1	+	9	1094	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	CAPN11_uc011dvn.2_Missense_Mutation_p.K6N	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	352	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627000													11	68					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566438	56566438	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56566438C>T	uc001skb.3	-	17	1807	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	SMARCC2_uc001skd.3_Silent_p.E598E|SMARCC2_uc001ska.3_Silent_p.E598E|SMARCC2_uc001skc.3_Silent_p.E597E|SMARCC2_uc010sqf.2_Silent_p.E487E	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	567					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGTTGGTTTCTCTTTGCCTT	0.498000													13	131					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159830471	159830471	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:159830471C>T	uc003lyg.3	-	16	1737	c.1582_splice	c.e16-1	p.A528_splice		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	528					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTTCAGTGCCTATAGTGAG	0.458000													58	72					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12280035	12280035	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:12280035C>T	uc001mjz.3	+	24	3451	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	MICAL2_uc010rch.1_Missense_Mutation_p.H865Y|MICAL2_uc001mka.3_Missense_Mutation_p.H1055Y|MICAL2_uc010rci.2_Missense_Mutation_p.H1034Y|MICAL2_uc001mkb.3_Missense_Mutation_p.H829Y|MICAL2_uc001mkc.3_Missense_Mutation_p.H808Y|MICAL2_uc001mkd.3_Missense_Mutation_p.H637Y|MICAL2_uc010rcj.2_Missense_Mutation_p.H267Y|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1055	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGCAAGCCTCACTTCATTCA	0.418000													4	84					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84601021	84601021	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:84601021G>A	uc004eer.2	-	5	714	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	POF1B_uc004ees.3_Missense_Mutation_p.H190Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	190							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATAATGTGATGATGGCATTGA	0.438000													5	47					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1152961	1152961	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:1152961G>C	uc001adh.4	-	6	1349	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	340	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGCTGTACTTGAGCACCTCCT	0.662000													9	60					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:153249385G>A	uc003ims.3	-	8	1555	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_uc011cii.2_Missense_Mutation_p.R465C|FBXW7_uc003imt.3_Missense_Mutation_p.R465C|FBXW7_uc011cih.2_Missense_Mutation_p.R289C|FBXW7_uc003imq.3_Missense_Mutation_p.R385C|FBXW7_uc003imr.3_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R465C(140)|p.R465H(56)|p.R226C(11)|p.R385C(11)|p.R465L(4)|p.R465Y(4)|p.R347C(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								52	72					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37146598	37146598	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:37146598C>T	uc002xiw.3	+	8	1629	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RALGAPB_uc010zvz.1_Missense_Mutation_p.H458Y|RALGAPB_uc002xix.3_Missense_Mutation_p.H458Y|RALGAPB_uc002xiy.1_Missense_Mutation_p.H458Y|RALGAPB_uc002xiz.3_Missense_Mutation_p.H236Y|RALGAPB_uc002xja.1_Missense_Mutation_p.H185Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	458					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCATTTGTTCACTGTAAACT	0.388000													10	70					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45665636	45665636	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45665636C>G	uc001wwd.4	+	20	5701	c.5602C>G	c.(5602-5604)Caa>Gaa	p.Q1868E	FANCM_uc010anf.3_Missense_Mutation_p.Q1842E|FANCM_uc001wwe.4_Missense_Mutation_p.Q1404E|FANCM_uc010ang.3_Missense_Mutation_p.Q1117E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1868	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGGAGGTCTCAATCTGAGAT	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	66					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854953	88854953	+	Missense_Mutation	SNP	C	C	A	rs142010122		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88854953C>A	uc010kbz.3	-	1	171	c.41G>T	c.(40-42)cGc>cTc	p.R14L	CNR1_uc011dzr.2_Missense_Mutation_p.R14L|CNR1_uc011dzs.2_Missense_Mutation_p.R14L|CNR1_uc003pmq.4_Missense_Mutation_p.R14L|CNR1_uc011dzt.2_Missense_Mutation_p.R14L|CNR1_uc010kca.3_Missense_Mutation_p.R14L|CNR1_uc021zco.1_Missense_Mutation_p.R14L	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	14					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTGATGGTGCGGAAGGTGGT	0.483000													11	118					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39919466	39919466	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:39919466G>A	uc021olw.1	+	52	16159	c.16159G>A	c.(16159-16161)Gat>Aat	p.D5387N	MACF1_uc021ols.1_Missense_Mutation_p.D4882N|MACF1_uc021olt.1_Missense_Mutation_p.D4885N	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6843					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCCACCCCGATTGCATCAC	0.498000													93	195					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910184	139910184	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139910184C>G	uc004ckm.1	-	22	3594	c.3544G>C	c.(3544-3546)Ggc>Cgc	p.G1182R	ABCA2_uc022bpy.1_Missense_Mutation_p.G1083R|ABCA2_uc022bpz.1_Missense_Mutation_p.G1153R|ABCA2_uc011mem.1_Missense_Mutation_p.G1152R|ABCA2_uc004ckl.1_Missense_Mutation_p.G1083R|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1152	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTCCACGCCCGCCGTGGGC	0.692000													5	33					0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24081165	24081165	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:24081165G>C	uc010xbj.2	-	1	1859	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	KCTD1_uc002kvw.3_Missense_Mutation_p.S12C|KCTD1_uc010xbk.2_Missense_Mutation_p.S12C	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTTCAGTGGAGATGCAGGGGA	0.478000													6	114					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060202	36060202	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:36060202G>C	uc010ohy.2	+	6	1462	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N	PSMB2_uc001bzd.2_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGCTGGACAAGATGTTTCTAA	0.542000													16	128					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115608914	115608914	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:115608914C>G	uc001law.2	-	1	2868	c.1950G>C	c.(1948-1950)caG>caC	p.Q650H		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	650					cell division|mitosis	nucleus	hydrolase activity	p.C649R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGATCTCTTCTGACACGCTC	0.413000								Other identified genes with known or suspected DNA repair function					20	124					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65483502	65483502	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:65483502C>T	uc011moz.2	+	19	3515	c.3378C>T	c.(3376-3378)ctC>ctT	p.L1126L	HEPH_uc004dwn.3_Silent_p.L1075L|HEPH_uc004dwo.3_Silent_p.L805L|HEPH_uc010nkr.3_Silent_p.L883L|HEPH_uc011mpa.2_Silent_p.L1075L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1072					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAAGCCCTCTCACCGTCATCA	0.443000													6	62					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44876090	44876090	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44876090C>T	uc001ztx.3	-	29	5819	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	SPG11_uc010bdw.3_Missense_Mutation_p.E219K|SPG11_uc010ueh.2_Missense_Mutation_p.E1930K|SPG11_uc010uei.2_Missense_Mutation_p.E1930K|SPG11_uc001zty.1_Missense_Mutation_p.E659K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1930					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCATGGATCTCTGGGTGCAGA	0.498000													27	70					0	0	1	0	0
SH2B3	10019	broad.mit.edu	37	12	111886103	111886103	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111886103C>A	uc001tsf.3	+	6	1755	c.1728C>A	c.(1726-1728)ctC>ctA	p.L576L	SH2B3_uc001tse.3_Silent_p.L575L|SH2B3_uc010syf.2_Silent_p.L575L|SH2B3_uc010syg.2_Silent_p.L373L	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	575					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						ACACACCTCTCTGACCAGTGA	0.532000													4	30					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110121874	110121874	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:110121874G>A	uc001dxz.2	+	3	509	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	118					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TGAAGAAGGAGTCATGACTCC	0.443000													8	87					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27066540	27066540	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:27066540C>T	uc001rhk.4	-	13	2192	c.1655G>A	c.(1654-1656)aGa>aAa	p.R552K	ASUN_uc001rhj.4_Missense_Mutation_p.R120K|ASUN_uc010sjk.2_Missense_Mutation_p.R451K	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	552					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCCAAGACTCTTTGATGTTT	0.433000													18	251					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640260	35640260	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35640260G>C	uc002hnm.3	-	4	598	c.407C>G	c.(406-408)tCt>tGt	p.S136C	ACACA_uc002hnk.3_Missense_Mutation_p.S58C|ACACA_uc002hnl.3_Missense_Mutation_p.S78C|ACACA_uc002hnn.3_Missense_Mutation_p.S136C|ACACA_uc002hno.3_Missense_Mutation_p.S173C|ACACA_uc010cuz.3_Missense_Mutation_p.S136C|ACACA_uc002hnq.2_Missense_Mutation_p.S58C	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	136	Biotin carboxylation.				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	ATP binding|acetyl-CoA carboxylase activity|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)	CCTACGGATAGACCGCATGCA	0.438000													7	57					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796753	1796753	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1796753G>C	uc002ltw.3	-	15	1944	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ATP8B3_uc002ltv.3_Missense_Mutation_p.I523M|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	570					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CCGTGTGGCAGATGGCCAGCA	0.716000													7	32					0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18534978	18534978	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:18534978C>G	uc002wra.2	+	17	2553	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	SEC23B_uc010zsb.2_Missense_Mutation_p.L680V|SEC23B_uc002wrb.2_Missense_Mutation_p.L698V|SEC23B_uc002wqz.2_Missense_Mutation_p.L698V|SEC23B_uc002wrc.2_Missense_Mutation_p.L698V	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	698					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAGAAATTCTGCAAGCACG	0.512000													4	97					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44740795C>T	uc002oyu.3	+	5	2417	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	ZNF227_uc010xwu.2_Missense_Mutation_p.H687Y|ZNF227_uc002oyv.3_Missense_Mutation_p.H738Y|ZNF227_uc010xwv.2_Missense_Mutation_p.H687Y|ZNF227_uc010xww.2_Missense_Mutation_p.H659Y|ZNF227_uc002oyw.3_Missense_Mutation_p.H710Y|ZNF227_uc010ejh.3_Missense_Mutation_p.H731Y|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498000													5	96					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23561449	23561449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:23561449G>C	uc003swi.3	-	1	260	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_5'UTR|TRA2A_uc011jzd.2_5'UTR|TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	16					nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding	p.R15H(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTTTGACTGAGAGCGAGACTC	0.418000													4	50					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484527	24484527	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24484527C>G	uc002rfe.2	-	20	2698	c.2440G>C	c.(2440-2442)Gaa>Caa	p.E814Q	ITSN2_uc002rff.2_Missense_Mutation_p.E787Q|ITSN2_uc002rfg.3_Missense_Mutation_p.E814Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	814	SH3 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATTTTTTCTACATAATTG	0.378000													6	37					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19956199	19956199	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:19956199G>A	uc002wro.2	+	7	1826	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.P304P	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	510					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCATGACCCCGGAGAAGCGGA	0.572000													16	136					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662588	227662588	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:227662588G>C	uc021vxn.1	-	0	867	c.867C>G	c.(865-867)ctC>ctG	p.L289L	IRS1_uc002voh.4_Silent_p.L289L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	289	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGATTGTTGAGATGGTGCC	0.672000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	108					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969145	72969145	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:72969145G>C	uc001sxa.3	+	10	2137	c.2107G>C	c.(2107-2109)Gat>Cat	p.D703H		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	703					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTATTAATTGATCAATTAAT	0.343000													10	47					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633450	70633450	+	Missense_Mutation	SNP	C	C	T	rs76086886	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:70633450C>T	uc001xly.3	-	1	2444	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	SLC8A3_uc001xlw.3_Missense_Mutation_p.V564I|SLC8A3_uc001xlx.3_Missense_Mutation_p.V564I|SLC8A3_uc001xlz.3_Missense_Mutation_p.V564I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	564	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTAAAGGGGACGATGACTGTA	0.468000													9	49					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571714	44571714	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44571714G>C	uc003tlb.3	-	8	2568	c.2512C>G	c.(2512-2514)Ccc>Gcc	p.P838A	NPC1L1_uc011kbw.2_Missense_Mutation_p.P838A|NPC1L1_uc003tlc.3_Missense_Mutation_p.P838A	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	838					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAAGGGGGCATAAGCC	0.642000													25	71					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	91					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242274603	242274603	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:242274603G>A	uc002wbh.3	+	6	655	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEPT2_uc002wbc.3_Missense_Mutation_p.E65K|SEPT2_uc002wbd.3_Missense_Mutation_p.E65K|SEPT2_uc002wbf.3_Missense_Mutation_p.E65K|SEPT2_uc002wbg.3_Missense_Mutation_p.E65K|SEPT2_uc010zop.2_Missense_Mutation_p.E100K	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	65					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCTGTACCCAGAAAGAGTCAT	0.348000													3	17					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444465	62444465	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62444465C>T	uc001nuj.3	-	7	796	c.664G>A	c.(664-666)Gat>Aat	p.D222N	UBXN1_uc001nul.2_Missense_Mutation_p.D222N|UBXN1_uc001nuk.3_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	222	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GAGGTCCCATCTGGCAGCCTG	0.582000													10	84					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6431634	6431634	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6431634G>C	uc003spx.3	+	2	428	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RAC1_uc003spw.3_Missense_Mutation_p.D63H|RAC1_uc021zzg.1_Missense_Mutation_p.D19H	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	63			D -> G (in dbSNP:rs5831).		T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TGGACAAGAAGATTATGACAG	0.393000													38	59					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581355	21581355	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:21581355G>C	uc004czx.2	+	13	1874	c.1394_splice	c.e13-1	p.E465_splice	CNKSR2_uc004czw.3_Splice_Site_p.E465_splice|CNKSR2_uc011mjn.2_Splice_Site_p.E416_splice|CNKSR2_uc011mjo.2_Splice_Site_p.E435_splice|CNKSR2_uc004czy.3_Splice_Site_p.E57_splice	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	465	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTTTATATAGAAAACTCTCT	0.323000													4	29					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245467	202245467	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:202245467C>G	uc002uyb.4	-	15	2990	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	848				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CACCAGGGTTCTTGACCACTC	0.478000													12	96					0	0	1	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231466	36231466	+	Splice_Site	SNP	C	C	G	rs112857545		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36231466C>G	uc002obd.4	-	3	425	c.158_splice	c.e3-1	p.D53_splice	IGFLR1_uc002obb.3_Intron|IGFLR1_uc002obc.3_Splice_Site_p.D53_splice|IGFLR1_uc010xsy.2_Splice_Site|IGFLR1_uc010eej.3_Splice_Site_p.D133_splice	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	53						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AACTCATAGTCTAGCGGGAAA	0.662000													9	67					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182485	140182485	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:140182485C>A	uc003lhf.2	+	0	1703	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P568H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	582	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGATGCCTCGGGTGGGT	0.687000													21	153					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412843	77412843	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:77412843G>T	uc001oyn.3	-	5	1551	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	RSF1_uc001oym.3_Missense_Mutation_p.D225E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	477					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGATATTTCTGTCCTTAGAGG	0.398000													8	79					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203693021	203693021	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203693021G>C	uc001gzw.3	+	18	3934	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	ATP2B4_uc001gzv.3_Missense_Mutation_p.E1013Q|ATP2B4_uc009xaq.3_Missense_Mutation_p.E1013Q|ATP2B4_uc001gzx.3_Missense_Mutation_p.E44Q|ATP2B4_uc009xar.3_Intron	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1013					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCATCGTGGAATTTGGGGG	0.532000													5	139					0	0	1	0	0
C12orf26	84190	broad.mit.edu	37	12	82780731	82780731	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:82780731C>G	uc001szq.3	+	1	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	137										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGAGGAAATCAAAACCAGAG	0.368000													4	78					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995996	139995996	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139995996G>A	uc004cld.2	+	7	1161	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	MAN1B1_uc004clc.2_Missense_Mutation_p.D277N|MAN1B1_uc011meo.1_Missense_Mutation_p.D277N|MAN1B1_uc011mep.2_Missense_Mutation_p.D376N|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	376					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTTACTCGGATGTGAACAT	0.547000													5	42					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226125369	226125369	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226125369G>A	uc001hpt.2	-	3	1116	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LEFTY2_uc010pvk.2_Silent_p.Y257Y|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	291					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCACACACTCGTAAGCCAGGA	0.662000													3	40					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339928	55339928	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:55339928G>C	uc010rih.2	+	0	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGCCTGGAGATCTTCAT	0.483000													17	126					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74534271	74534271	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74534271C>A	uc001xpo.3	-	8	952	c.853_splice	c.e8-1	p.G285_splice	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Splice_Site_p.G272_splice|ALDH6A1_uc010asa.3_Splice_Site_p.G130_splice	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	285						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCTTGGCTCCCTAAAAAAA	0.478000													4	31					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725701	15725701	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:15725701G>A	uc003stc.3	-	0	608	c.327C>T	c.(325-327)tgC>tgT	p.C109C		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	109					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGCTGGAGGCAGAGGCTGT	0.672000													3	16					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178360736	178360736	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:178360736C>G	uc003iuu.2	-	2	516	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	AGA_uc003iuw.3_Missense_Mutation_p.E130Q|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	130					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ATACCTGACTCTCCTACTAAA	0.343000													14	70					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90371187	90371187	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:90371187C>T	uc003pnn.1	-	87	14792	c.14676G>A	c.(14674-14676)aaG>aaA	p.K4892K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4892					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)		CACCACCATTCTTGTCTTCAC	0.458000													7	102					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100022444	100022444	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:100022444C>G	uc002tad.3	-	16	2951	c.2739G>C	c.(2737-2739)tgG>tgC	p.W913C	REV1_uc002tac.3_Missense_Mutation_p.W912C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	913					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGACCATTCCATTTCCCTG	0.443000								Direct reversal of damage					3	47					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6655238	6655238	+	Missense_Mutation	SNP	G	G	C	rs146086570	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:6655238G>C	uc001mem.1	-	3	2401	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATACCATGGACTTGAGGCC	0.552000													9	60					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176519359	176519359	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:176519359C>T	uc003mfl.3	+	6	932	c.765C>T	c.(763-765)ctC>ctT	p.L255L	FGFR4_uc003mfm.3_Silent_p.L255L|FGFR4_uc011dfu.2_Silent_p.L255L|FGFR4_uc011dfw.1_Silent_p.L255L|FGFR4_uc003mfo.3_Silent_p.L255L	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	255	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	AGGCCGGGCTCCCGGCCAACA	0.667000										TSP Lung(9;0.080)			7	24					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21588648	21588648	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:21588648C>G	uc002npw.3	+	2	362	c.243C>G	c.(241-243)gtC>gtG	p.V81V	ZNF493_uc002npu.3_Silent_p.V82V|ZNF493_uc002npx.3_Intron|ZNF493_uc002npy.3_5'UTR	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTACGGTAGTCAAACCCCCAG	0.408000													4	52					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955689	54955689	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:54955689A>G	uc004dtq.3	+	11	2639	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.G375G|TRO_uc004dtw.3_Silent_p.G447G|TRO_uc004dtx.3_Silent_p.G227G	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	844	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGTGGTGGAGCCAGCTCTG	0.557000													4	52					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7571654	7571654	+	Silent	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:7571654A>T	uc003mxp.1	+	13	2019	c.1740A>T	c.(1738-1740)atA>atT	p.I580I	DSP_uc003mxq.1_Silent_p.I580I|DSP_uc021yle.1_Silent_p.I580I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	580	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGACGATAGCCGACCTTG	0.443000													27	261					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095740	178095740	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095740G>A	uc002ulh.4	-	4	2146	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	NFE2L2_uc002ulg.4_Missense_Mutation_p.H515Y|NFE2L2_uc010zfa.2_Missense_Mutation_p.H508Y|NFE2L2_uc002uli.4_Missense_Mutation_p.H515Y	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	531	Leucine-zipper.				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTTCAAATGATCTAAATCT	0.343000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			9	60					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40882619C>T	uc002onm.4	+	10	1521	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PLD3_uc002onj.4_Missense_Mutation_p.R375W|PLD3_uc002onn.3_Missense_Mutation_p.R375W	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	375					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647000													15	73					0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575710	45575710	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:45575710C>T	uc002pao.3	-	2	634	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	193					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCGGGGCCTCCGGGGCCTCT	0.682000													5	71					0	0	1	0	0
POLR2J3	548644	broad.mit.edu	37	7	102212948	102212948	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:102212948G>C	uc011kkw.1	-	0	121	c.21C>G	c.(19-21)ttC>ttG	p.F7L	UPK3BL_uc003uzw.2_5'UTR	NM_001097615	NP_001091084	Q9GZM3	RPB1B_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J3 (POLR2J3), mRNA.	7						nucleus	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity										AGAACGACTCGAAGGCTGGAG	0.667000													8	233					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413008	116413008	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116413008C>T	uc001tvw.3	-	24	5754	c.5699G>A	c.(5698-5700)cGa>cAa	p.R1900Q		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1900					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.G1899V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACGCCCAAGTCGCCCGATTAC	0.438000													5	78					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049679	42049679	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:42049679C>G	uc001cgz.4	-	3	2003	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	HIVEP3_uc001cha.4_Missense_Mutation_p.E264Q|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	264	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCATCTCCAGCCCATGT	0.572000													9	76					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549080	158549080	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158549080A>G	uc010pin.2	-	0	610	c.610T>C	c.(610-612)Tct>Cct	p.S204P		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTATACAAGACAGCCTAATA	0.433000													5	70					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782673	115782673	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:115782673G>A	uc003krx.4	-	19	3489	c.2780C>T	c.(2779-2781)tCt>tTt	p.S927F	SEMA6A_uc010jck.3_Missense_Mutation_p.S910F|SEMA6A_uc011cwe.2_Missense_Mutation_p.S289F|SEMA6A_uc003krv.4_Missense_Mutation_p.S337F|SEMA6A_uc003krw.4_Missense_Mutation_p.S387F|SEMA6A_uc010jcj.3_Missense_Mutation_p.S454F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	910					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCGTAGGAAGAGGAGTGGTG	0.587000													8	77					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548751	116548751	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:116548751C>G	uc002tle.3	+	17	1659	c.1638C>G	c.(1636-1638)gaC>gaG	p.D546E	DPP10_uc002tla.2_Missense_Mutation_p.D542E|DPP10_uc002tlb.2_Missense_Mutation_p.D492E|DPP10_uc002tlc.2_Missense_Mutation_p.D538E|DPP10_uc002tlf.2_Missense_Mutation_p.D535E	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	542					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTGACGACTATGGTAAAA	0.323000													4	30					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413800	68413800	+	RNA	SNP	C	C	G	rs1806918		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:68413800C>G	uc004aex.3	+	0		c.355C>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GGGGCTCCAGCCCCACCACGG	0.692000													3	14					0	0	1	0	0
YOD1	55432	broad.mit.edu	37	1	207222908	207222908	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:207222908G>A	uc001hfe.1	-	1	551	c.504C>T	c.(502-504)gtC>gtT	p.V168V	PFKFB2_uc010psc.2_5'UTR|YOD1_uc001hff.1_Silent_p.V124V	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	168	OTU.				ER-associated protein catabolic process|cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTCCTTCGACGACATAGTACA	0.488000													20	26					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79116090	79116090	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:79116090G>C	uc001dip.4	+	1	334	c.210G>C	c.(208-210)caG>caC	p.Q70H	IFI44_uc010orr.1_Missense_Mutation_p.Q70H|IFI44_uc010ors.1_Intron	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	70					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGTTACCAGGAAGGAAAGT	0.368000													11	102					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70548413	70548413	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:70548413C>T	uc002ezc.3	-	4	381	c.370_splice	c.e4-1	p.N124_splice	COG4_uc002ezd.3_Splice_Site_p.N124_splice|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	120	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAGGCGGTTCTGCAAAAAGA	0.433000													6	19					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21081548	21081548	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:21081548G>A	uc002zsz.4	-	40	4998	c.4737C>T	c.(4735-4737)taC>taT	p.Y1579Y	PI4KA_uc002zsy.4_Silent_p.Y389Y	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1579					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTTCACCCCGTACTGCGCCG	0.657000													15	43					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131172206	131172206	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:131172206G>C	uc003yta.2	-	11	1142	c.914C>G	c.(913-915)tCt>tGt	p.S305C	ASAP1_uc003ysz.2_Missense_Mutation_p.S116C|ASAP1_uc011liw.2_Missense_Mutation_p.S298C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	305					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGGCTCTGAGAATCCTAGGA	0.443000													9	63					0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468144	61468144	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:61468144C>T	uc002ljl.3	+	6	738	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SERPINB7_uc002ljm.3_Silent_p.F214F|SERPINB7_uc010xet.2_Silent_p.F197F|SERPINB7_uc010dqg.3_Silent_p.F214F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	214					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AACGGAAGTTCAATTTGTCTG	0.408000													10	74					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099146	111099146	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111099146C>G	uc001trs.1	-	3	294	c.129G>C	c.(127-129)aaG>aaC	p.K43N	HVCN1_uc001trq.1_Missense_Mutation_p.K43N|HVCN1_uc001trt.1_Missense_Mutation_p.K43N|HVCN1_uc010syd.1_Missense_Mutation_p.K23N	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	43					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.Y42C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tctccCATTTCTTGTAGTTGA	0.597000													7	65					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886561	29886561	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:29886561G>T	uc003afo.3	+	3	3003	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y	KIAA0845_uc003afp.3_Missense_Mutation_p.K43N	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	984	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGAAGATGACAAGAC	0.512000													6	77					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99722164	99722164	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722164G>C	uc003uto.3	+	4	596	c.493G>C	c.(493-495)Gac>Cac	p.D165H	MBLAC1_uc003utp.3_5'Flank|MBLAC1_uc022aig.1_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	165	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGTTTGAAGACATTGTGGG	0.512000													12	79					0	0	1	0	0
UNC119	9094	broad.mit.edu	37	17	26874818	26874818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26874818C>T	uc002hbk.2	-	3	558	c.487G>A	c.(487-489)Gag>Aag	p.E163K	UNC119_uc002hbm.2_Missense_Mutation_p.E163K	NM_005148	NP_005139	Q13432	U119A_HUMAN	Homo sapiens unc-119 homolog (C. elegans) (UNC119), transcript variant 1, mRNA.	163					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TAGTGCCTCTCGATCATGCGG	0.517000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	120					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890533	197890533	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:197890533C>G	uc001guk.1	+	2	914	c.477C>G	c.(475-477)ttC>ttG	p.F159L	LHX9_uc001gui.1_Missense_Mutation_p.F150L	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	159	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGCTGCTTCACCTGCTCCA	0.597000													4	94					0	0	1	0	0
ZMAT5	55954	broad.mit.edu	37	22	30134374	30134374	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:30134374G>C	uc003agm.3	-	5	579	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	ZMAT5_uc003agn.3_Missense_Mutation_p.L110V	NM_019103	NP_061976	Q9UDW3	ZMAT5_HUMAN	Homo sapiens zinc finger, matrin-type 5 (ZMAT5), transcript variant 1, mRNA.	110					mRNA processing	U12-type spliceosomal complex|cytoplasm	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CAGTCCTCCAGATGGCCCTCG	0.642000													4	49					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414560	121414560	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121414560C>T	uc010hrc.3	-	12	4936	c.4810G>A	c.(4810-4812)Gca>Aca	p.A1604T	GOLGB1_uc003eei.4_Missense_Mutation_p.A1599T|GOLGB1_uc003eej.4_Missense_Mutation_p.A1565T|GOLGB1_uc021xcy.1_Missense_Mutation_p.A1524T|GOLGB1_uc011bjm.1_Missense_Mutation_p.A1485T|GOLGB1_uc010hrd.1_Missense_Mutation_p.A1563T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTACTTTCTGCAATCTTAGAA	0.378000													18	57					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1460850C>G	uc002lsr.1	+	11	1723	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	APC2_uc002lss.1_Silent_p.L87L|APC2_uc002lst.1_Silent_p.L505L|APC2_uc002lsu.1_Silent_p.L504L	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	505					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTGAGGAGCTCCACCAGGTAC	0.697000													8	38					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156281931	156281931	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:156281931G>C	uc001fol.2	-	10	1287	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	CCT3_uc010phj.2_Missense_Mutation_p.I306M|CCT3_uc010phk.2_Missense_Mutation_p.I306M|CCT3_uc001fon.2_Missense_Mutation_p.I314M|CCT3_uc010phl.2_Missense_Mutation_p.I306M	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	352					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAATTTTCTTGATTTCCAACA	0.517000													6	65					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26725246	26725246	+	Missense_Mutation	SNP	C	C	T	rs111033535		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:26725246C>T	uc002rhk.3	-	6	759	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	211					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCTAGCCGAATGGCCAG	0.557000													4	21					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735697	12735697	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:12735697G>A	uc004cuz.2	+	15	3258	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	FRMPD4_uc011mij.2_Missense_Mutation_p.E910K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493000													25	199					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688184	55688184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:55688184G>T	uc010sph.2	-	0	833	c.833C>A	c.(832-834)tCa>tAa	p.S278*		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGGGCAATTGAGGTATAGAG	0.363000													11	63					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46203651	46203651	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:46203651C>G	uc002rut.3	+	2	693	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	166					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGGTCCATCAGGTCAACGG	0.587000													29	90					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53222263	53222263	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:53222263C>G	uc004drz.3	-	25	5102	c.4569G>C	c.(4567-4569)caG>caC	p.Q1523H	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Missense_Mutation_p.Q1522H|AY927613_uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1523					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAAGCCATTCTGGTTCTCCT	0.677000			"""N, F, S"""		clear cell renal carcinoma								3	36					0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167617	90167617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:90167617C>G	uc002boe.3	+	19	4076	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	C15orf42_uc021sug.1_Nonsense_Mutation_p.S1358*	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1359	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTGTTCCCTCAACTCCCCCT	0.527000													16	110					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855726	228855726	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:228855726C>G	uc002vpq.2	-	10	4996	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1621T|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1650						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTTCAATTCTGTTTTCCTG	0.453000													7	76					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394225	52394225	+	Silent	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52394225T>C	uc002pxy.3	-	4	1490	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G	ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTAATGAGTCCTGACTTCT	0.433000													14	85					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2395011	2395011	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2395011C>G	uc003slx.3	+	0	538	c.455C>G	c.(454-456)tCc>tGc	p.S152C	EIF3B_uc003sly.3_Missense_Mutation_p.S152C|EIF3B_uc003slz.1_Missense_Mutation_p.S113C	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	152	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGAGCCCTCCTTCAGCGAC	0.756000													3	15					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	307135	307135	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:307135G>T	uc001qhz.3	-	9	1545	c.881C>A	c.(880-882)tCc>tAc	p.S294Y	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.S294Y|SLC6A12_uc001qib.3_Missense_Mutation_p.S294Y|SLC6A12_uc009zdh.2_Missense_Mutation_p.S294Y	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	294					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATGGCAAAGGAGAAGAAGAT	0.587000													5	116					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102906847	102906847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:102906847C>T	uc001ylw.2	+	10	2879	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TECPR2_uc010awl.3_Missense_Mutation_p.R885W|TECPR2_uc010txx.2_Missense_Mutation_p.R48W	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	885							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGGGGAAGCGGCACTGGTA	0.517000													11	80					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525515	176525515	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176525515C>G	uc001gkz.3	+	1	1221	c.57C>G	c.(55-57)ctC>ctG	p.L19L	PAPPA2_uc001gky.1_Silent_p.L19L|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	19					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGGGCACTCTGTTCTGCCA	0.507000													8	161					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411742	179411742	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179411742G>C	uc021vsy.1	-	288	87031	c.86806C>G	c.(86806-86808)Caa>Gaa	p.Q28936E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Q22631E|TTN_uc021vta.1_Missense_Mutation_p.Q22564E|TTN_uc021vtb.1_Missense_Mutation_p.Q22439E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29863	Ig-like 133.			D -> N (in Ref. 1; CAA62188).			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)			ACTGGATTTTGAGCCATTATA	0.363000													19	113					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:108704338C>A	uc003kos.4	-	4	1613	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	465					long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCATTCTCATCTTTTCCTGGC	0.423000													15	53					0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111747359	111747359	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:111747359G>C	uc001pmc.4	-	3	863	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_Missense_Mutation_p.Q31E|C11orf1_uc001pmd.3_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	180					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTTATCTTGACTCCTGGCA	0.388000													5	47					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52714679C>T	uc002pyp.3	+	3	732	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S91L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S186L|PPP2R1A_uc002pyq.3_5'UTR	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.T145P(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652000			Mis		clear cell ovarian carcinoma								11	90					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			5	22					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105438994	105438994	+	Missense_Mutation	SNP	C	C	G	rs116474782	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:105438994C>G	uc003dwc.3	-	9	1626	c.1304G>C	c.(1303-1305)tGt>tCt	p.C435S	CBLB_uc011bhi.2_Missense_Mutation_p.C457S|CBLB_uc003dwd.2_Missense_Mutation_p.C435S|CBLB_uc003dwe.2_Missense_Mutation_p.C435S|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	435					NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGCTGCAACACCTGGAGCC	0.512000			Mis S		AML								5	30					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230459297	230459297	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:230459297G>C	uc010pwb.2	-	6	1266	c.1242C>G	c.(1240-1242)atC>atG	p.I414M		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	414						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCATTGTTGATGGCGATGC	0.517000													15	111					0	0	1	0	0
ZNF821	55565	broad.mit.edu	37	16	71898077	71898077	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:71898077G>A	uc010vmj.2	-	4	789	c.381C>T	c.(379-381)tgC>tgT	p.C127C	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Silent_p.C85C|ZNF821_uc021tlb.1_Silent_p.C127C|ZNF821_uc021tlc.1_Silent_p.C127C|ZNF821_uc002fbh.4_Silent_p.C85C|ZNF821_uc002fbg.4_5'UTR	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCCGGCTCCCGCAGTCTAGCT	0.532000													13	71					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44426880	44426880	+	Missense_Mutation	SNP	A	A	G	rs117692141		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:44426880A>G	uc001ckx.3	+	13	3085	c.2290A>G	c.(2290-2292)Att>Gtt	p.I764V		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	764					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTTTCCCCCAATTGAGGCCCT	0.587000													37	358					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825882	103825882	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103825882C>G	uc001kuj.3	+	0	759	c.651C>G	c.(649-651)ctC>ctG	p.L217L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	217						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACGTTCTACTCATCTGGAGCC	0.622000									Hermansky-Pudlak syndrome				23	58					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895247	24895247	+	Nonsense_Mutation	SNP	C	C	T	rs140002881		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:24895247C>T	uc001upj.3	+	3	404	c.343C>T	c.(343-345)Cga>Tga	p.R115*	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	115	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAAGGGCCTCCGAGGAGAGAC	0.602000													17	50					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165191	1165191	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1165191C>G	uc003gco.4	-	2	633	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	SPON2_uc021xkj.1_Missense_Mutation_p.E102Q|SPON2_uc010ibr.3_Missense_Mutation_p.E102Q|SPON2_uc003gcm.1_Missense_Mutation_p.E20Q	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	102	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701000													7	38					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173234	207173234	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:207173234G>C	uc002vbp.2	+	4	4232	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1328							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTGATTCTGAAATAATTTA	0.383000													5	42					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52511996	52511996	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52511996G>C	uc010bff.3	-	30	3907	c.3745C>G	c.(3745-3747)Cag>Gag	p.Q1249E	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1249						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGATGTAACTGATTAGACAAT	0.378000													9	19					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:143028681C>G	uc003wcr.1	+	9	1189	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V	CLCN1_uc011ktc.1_Missense_Mutation_p.L30V	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(2)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000													7	62					0	0	1	0	0
C1orf55	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226173095G>A	uc001hpu.4	-	6	1317	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	422								p.R422W(1)|p.R410W(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					CTTGCTGCCCGCTCCTGCAGA	0.502000													7	84					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043585	119043585	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:119043585C>G	uc001lde.1	-	4	2858	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	887					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGAAGTCTCAGCTAGACAC	0.433000													8	53					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14177406	14177406	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:14177406G>C	uc003byk.2	+	9	1134	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	TMEM43_uc003byl.1_Missense_Mutation_p.E174Q	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	294						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTTCTCAGCAGAGGTGAGTGC	0.552000													5	68					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441993	6441993	+	Silent	SNP	C	C	T	rs61753123	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6441993C>T	uc003spx.3	+	5	736	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RAC1_uc003spw.3_Silent_p.L184L|RAC1_uc021zzg.1_Silent_p.L121L	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	165					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGCGAGGCCTCAAGACAGTGT	0.547000													7	92					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130392265	130392265	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:130392265G>A	uc003qbt.3	+	12	1413	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	L3MBTL3_uc003qbu.3_Missense_Mutation_p.D388N	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAGAGCTATGACTATTGGTG	0.343000													16	135					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42021388	42021388	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:42021388C>T	uc010ucy.2	+	10	3865	c.3684C>T	c.(3682-3684)gtC>gtT	p.V1228V	MGA_uc010ucz.2_Silent_p.V1228V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1228						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V1228V(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGATCCAGTCTACTTGTACT	0.408000													5	14					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076587	125076587	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:125076587G>T	uc003yqw.3	+	26	3535	c.3329_splice	c.e26-1	p.D1110_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1110			D -> E (in dbSNP:rs7012186).			integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCATTTCAGATATTTCAGA	0.507000													17	107					0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34159950	34159950	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:34159950G>A	uc001zhj.3	-	4	775	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAAAGATGGGCCCCCTTCC	0.547000													6	84					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35560367	35560367	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35560367G>C	uc003zww.3	+	9	3985	c.3730G>C	c.(3730-3732)Gaa>Caa	p.E1244Q	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1244Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1244	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ggaagaggaagaagaggagac	0.687000													9	30					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955308	30955308	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:30955308G>A	uc003nsh.2	+	1	1607	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.L436L	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	452						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCAGCTCTGACTGGAATGC	0.577000													8	160					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2844651	2844651	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2844651G>T	uc002whe.3	+	15	1581	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Silent_p.L367L|VPS16_uc002whg.3_Silent_p.L197L	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	511					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACCAGAAGCTGGGGGACACGC	0.582000													5	135					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435818	158435818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158435818C>T	uc010pij.2	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCACTGTCTCCCTGGTCACC	0.532000													22	203					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2188795	2188795	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2188795G>A	uc003slh.1	-	10	1331	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAD1L1_uc003sle.1_Silent_p.V84V|MAD1L1_uc003slf.1_Silent_p.V355V|MAD1L1_uc003slg.1_Silent_p.V355V|MAD1L1_uc010ksh.1_Silent_p.V355V|MAD1L1_uc003sli.1_Silent_p.V263V|MAD1L1_uc010ksi.1_Silent_p.V308V|MAD1L1_uc010ksj.3_Silent_p.V355V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	355					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGCTGGTGACGGCGCTGT	0.582000													5	45					0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137682488	137682488	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:137682488C>G	uc003lcv.3	+	4	1489	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	FAM53C_uc003lcw.3_Missense_Mutation_p.S340C|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_3'UTR	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	340										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCCTCTCTGCTTCCTGC	0.622000													9	61					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118629493	118629493	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:118629493C>A	uc001ehk.2	-	11	1565	c.1497_splice	c.e11+1	p.K499_splice		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	499						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCTATCTGACCTTTTTCTCC	0.458000													33	105					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176535	8176535	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:8176535C>T	uc002mjf.3	-	30	4098	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1361	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTCACCTTCGCAGAAGAAG	0.642000													3	15					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134027892	134027892	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:134027892G>A	uc001qhd.1	-	30	4711	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript|AK095267_uc021qsm.1_5'Flank	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1369					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCCGACTCCGATGCCTGCTC	0.507000													20	200					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304134	39304134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:39304134G>A	uc003gty.2	-	17	2565	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	RFC1_uc003gtx.2_Nonsense_Mutation_p.Q808*	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	809					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGATATCTTGATTGGCTCCC	0.353000													4	33					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112195361	112195361	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:112195361G>C	uc004bed.2	-	9	868	c.756C>G	c.(754-756)ttC>ttG	p.F252L	PTPN3_uc004beb.2_Missense_Mutation_p.F121L|PTPN3_uc004bec.2_Missense_Mutation_p.F121L|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.F252L|PTPN3_uc011lwh.1_Missense_Mutation_p.F143L	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	252	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACCAAGGATAGAAACTTGTGC	0.348000													5	36					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6502580	6502580	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502580C>G	uc002gde.4	-	13	2508	c.2149G>C	c.(2149-2151)Gcg>Ccg	p.A717P	KIAA0753_uc010vtd.2_Missense_Mutation_p.A173P|KIAA0753_uc010clo.3_Missense_Mutation_p.A418P|KIAA0753_uc010vte.2_Missense_Mutation_p.A418P	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	717						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGGCTTTCGCTGTGTTTACT	0.358000													5	38					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:85450933C>T	uc001tac.3	+	7	2473	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	LRRIQ1_uc021rbo.1_Nonsense_Mutation_p.R666*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.R763*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	788								p.R788*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323000													11	149					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75996926	75996926	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:75996926G>C	uc003kek.3	+	33	4615	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	IQGAP2_uc011csv.2_Missense_Mutation_p.D961H|IQGAP2_uc003kel.3_Missense_Mutation_p.D961H	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1465					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTAAACTAGATGGAAAAGG	0.423000													9	47					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46053347	46053347	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:46053347G>A	uc010wlc.2	+	7	950	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CDK5RAP3_uc002imq.1_Missense_Mutation_p.E31K|CDK5RAP3_uc002imr.3_Missense_Mutation_p.E256K|CDK5RAP3_uc002ims.3_Missense_Mutation_p.E169K	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	256					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACCCCACCTCGAGGAGCTTCC	0.607000													10	70					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252592	46252592	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46252592C>T	uc011bzc.1	-	9	1516	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	GABRA2_uc003gxc.3_Silent_p.Q363Q|GABRA2_uc010igc.2_Silent_p.Q363Q			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCGTTGTTCTGTATCATAA	0.408000													10	83					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216487	111216487	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:111216487G>A	uc001dzv.1	-	0	1169	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	315						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGACAAGCGAAGAACCGCA	0.557000													24	95					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20905332	20905332	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:20905332C>G	uc010sii.2	+	15	2467	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	SLCO1C1_uc010sij.2_Nonsense_Mutation_p.S621*|SLCO1C1_uc009zip.3_Missense_Mutation_p.F538L|SLCO1C1_uc001rei.3_Nonsense_Mutation_p.S670*|SLCO1C1_uc010sik.2_Missense_Mutation_p.F586L	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATTATGTTTCAAAACACAGA	0.343000													4	36					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14675027	14675027	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14675027C>G	uc002mza.3	+	6	547	c.417C>G	c.(415-417)atC>atG	p.I139M	TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Missense_Mutation_p.I154M|TECR_uc002mze.3_5'Flank	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	139					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						TCCACTACATCAAGCGCCTGC	0.627000													15	94					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37291994	37291994	+	Silent	SNP	G	G	C	rs142538657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:37291994G>C	uc002rpp.1	-	9	1569	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	491							binding	p.L491L(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAAGTTGTTGAGCCGTTCTG	0.507000													22	44					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:59373350C>A	uc002afv.3	+	7	2443	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	RNF111_uc002afs.3_Missense_Mutation_p.Q722K|RNF111_uc002aft.3_Missense_Mutation_p.Q722K|RNF111_uc002afu.3_Missense_Mutation_p.Q721K|RNF111_uc002afw.3_Missense_Mutation_p.Q722K|RNF111_uc002afx.3_Missense_Mutation_p.Q248K	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q722*(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502000													16	116					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663762	153663762	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153663762G>A	uc004flf.1	+	8	1175	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.E332K|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	372					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCACTGCGAGTATGTCAG	0.592000													21	51					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042916	31042916	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:31042916C>T	uc003ais.1	+	1	1596	c.951C>T	c.(949-951)ctC>ctT	p.L317L	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	317	Leu-rich.					integral to membrane		p.A316T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCGCACTCACTCTTTCAG	0.627000													10	70					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45577223	45577223	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:45577223G>C	uc003bfr.3	+	5	1522	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	NUP50_uc003bfs.3_Missense_Mutation_p.E326Q|NUP50_uc011aqn.2_Missense_Mutation_p.E104Q|NUP50_uc003bft.3_Missense_Mutation_p.E326Q|NUP50_uc011aqo.1_Missense_Mutation_p.E104Q	NM_007172	NP_705931	Q9UKX7	NUP50_HUMAN	Homo sapiens nucleoporin 50kDa (NUP50), transcript variant 2, mRNA.	354	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGAAGTAAAAGAAGAAGATGC	0.418000													4	54					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058204	170058204	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170058204G>A	uc002ues.3	-	43	8599	c.8386C>T	c.(8386-8388)Cgt>Tgt	p.R2796C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2796	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAAACTCACGAGGTATGCAC	0.433000													5	64					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549791	62549791	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62549791C>G	uc001nvc.3	+	7	1014	c.813C>G	c.(811-813)ctC>ctG	p.L271L	TAF6L_uc009yof.3_Silent_p.L271L	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	271					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCTCCTGCTCAGCCACATCT	0.607000													37	100					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126326	121126326	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121126326C>G	uc003eec.4	+	23	3036	c.2896C>G	c.(2896-2898)Cag>Gag	p.Q966E	STXBP5L_uc011bji.2_Missense_Mutation_p.Q942E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	966					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTGCCTTCTCAGACTTGCCT	0.418000													12	71					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395956	40395956	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40395956G>C	uc002omp.4	-	14	7449	c.7441C>G	c.(7441-7443)Cag>Gag	p.Q2481E		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2481	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCAGGTCTGAGCCAGCACA	0.642000													29	311					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723897	49723897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:49723897G>A	uc003cxg.3	-	7	937	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	MST1_uc011bcs.1_Silent_p.P287P|MST1_uc010hkx.2_Missense_Mutation_p.R210C|MST1_uc011bct.1_Missense_Mutation_p.R289C|MST1_uc011bcu.1_Non-coding_Transcript	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	275	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCTTGGCGGGGCTGTGCC	0.657000													4	27					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429011	42429011	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42429011C>T	uc002igp.1	+	9	1246	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	343					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACCAGGTGCCCTGGATGGA	0.607000													34	67					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626043	154626043	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:154626043G>C	uc003inq.3	+	2	2203	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	TLR2_uc003inr.3_Missense_Mutation_p.E662Q|TLR2_uc003ins.3_Missense_Mutation_p.E662Q|TLR2_uc021xtl.1_Missense_Mutation_p.E662Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	662	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TATGGTCCAGGAGCTGGAGAA	0.473000													10	60					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909028	158909028	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158909028C>T	uc001ftb.3	+	3	820	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PYHIN1_uc001fta.4_Silent_p.S190S|PYHIN1_uc001ftc.3_Silent_p.S181S|PYHIN1_uc001ftd.3_Silent_p.S190S|PYHIN1_uc001fte.3_Silent_p.S181S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	190					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACACTTCCTCAACTGAGG	0.502000													7	128					0	0	1	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233840	2233840	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:2233840C>T	uc002lvf.1	-	5	1153	c.449G>A	c.(448-450)tGa>tAa	p.*150*	SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	0							protein binding			endometrium(1)|kidney(1)	2				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)		GCCCTGCGCTCACGCCTGCAA	0.637000													4	20					0	0	1	0	0
FAM18B1	51030	broad.mit.edu	37	17	18692746	18692746	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:18692746C>G	uc002gum.2	+	1	118	c.93C>G	c.(91-93)atC>atG	p.I31M		NM_016078	NP_057162	Q9NYZ1	F18B1_HUMAN	Homo sapiens family with sequence similarity 18, member B1 (FAM18B1), mRNA.	31						integral to membrane				cervix(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	7						AAGCCAAAATCAGGTAGGAGG	0.428000													5	75					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834449	107834449	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:107834449C>G	uc022ccg.1	+	19	1529	c.1327C>G	c.(1327-1329)Cac>Gac	p.H443D	COL4A5_uc004enz.1_Missense_Mutation_p.H443D|COL4A5_uc004eob.1_Missense_Mutation_p.H51D	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	443	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCTGGCCCTCACATTCCTCC	0.458000									Alport syndrome with Diffuse Leiomyomatosis				5	78					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56825346	56825346	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56825346G>C	uc001slf.2	-	7	898	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	TIMELESS_uc001slg.2_Missense_Mutation_p.Q243E	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	244					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCCGCTCCTGAGCTAAGCGT	0.552000													7	55					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36484194	36484194	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:36484194G>C	uc001mwo.4	+	8	1404	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	PRR5L_uc001mwp.3_Missense_Mutation_p.E339Q|PRR5L_uc009ykk.3_Missense_Mutation_p.E211Q|PRR5L_uc010rfc.2_3'UTR	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	339										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTGCTCCAGTGAGCCCAACAT	0.667000													11	38					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53340214	53340214	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:53340214G>A	uc002ehb.3	+	30	6849	c.6685G>A	c.(6685-6687)Gag>Aag	p.E2229K	CHD9_uc002egy.3_Missense_Mutation_p.E2229K|CHD9_uc002ehc.3_Missense_Mutation_p.E2230K|CHD9_uc002ehf.3_Missense_Mutation_p.E1343K|CHD9_uc002ehg.2_Missense_Mutation_p.E1344K|CHD9_uc010cbw.3_Missense_Mutation_p.E295K	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2229					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACCCAGGATGAGACTCAGGA	0.398000													4	38					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33370197	33370197	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:33370197C>T	uc002nty.3	-	18	2312	c.2223G>A	c.(2221-2223)acG>acA	p.T741T	CEP89_uc002ntx.3_Silent_p.T494T|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	741						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CGCCTGTCCTCGTGAGTGTGT	0.532000													5	217					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887352	155887352	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:155887352G>C	uc001fmi.1	-	10	1402	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q460E|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	460										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CGTCTCTTCTGTGCCTGGGGC	0.537000													18	158					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737522	248737522	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248737522G>A	uc001iep.1	-	0	537	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AAAAACTCAGGATTTTCCTAG	0.522000													20	43					0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77969711	77969711	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:77969711G>A	uc003hkm.3	-	6	1339	c.795C>T	c.(793-795)ctC>ctT	p.L265L	CCNI_uc011ccb.2_Silent_p.L251L	NM_006835	NP_006826	Q14094	CCNI_HUMAN	Homo sapiens cyclin I (CCNI), mRNA.	265					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGGTGTGCTTGAGGGGACGGT	0.527000													11	82					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413568	68413568	+	RNA	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:68413568G>A	uc004aex.3	+	0		c.123G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TCCCCCAGTGGCGCCGGATCT	0.607000													6	38					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753449	13753449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:13753449G>C	uc003jfd.2	-	62	10807	c.10765C>G	c.(10765-10767)Caa>Gaa	p.Q3589E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3589	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCATTTTGAATGGACAAG	0.383000									Kartagener syndrome				11	57					0	0	1	0	0
DQ590126	0	broad.mit.edu	37	1	143403554	143403554	+	Splice_Site	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:143403554T>G	uc002zkn.1	-	1		c.30_splice	c.e1+1		DQ587539_uc001ejl.1_5'Flank					Homo sapiens piRNA piR-47400, complete sequence.																		GGAACAGGATTTCTTTGGCCA	0.468000													3	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7578534C>A	uc002gim.2	-	4	590	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.3_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.K93N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(94)|p.K132R(37)|p.K132E(20)|p.K132Q(13)|p.Y126_K132delYSPALNK(12)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.N131I(5)|p.K132T(5)|p.K132*(4)|p.N131fs*27(4)|p.N131fs*39(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.N131H(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_N131delALN(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.K132W(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			25	32					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831535	47831535	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831535G>A	uc002zji.4	+	27	5655	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	PCNT_uc002zjj.3_Missense_Mutation_p.E1732K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1850					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCTGAGGTCGAAGACATGGC	0.617000													7	60					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125588934	125588934	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:125588934C>G	uc004bmz.2	-	1	324	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	45					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGCTCAGCCTCTGCAGGCACA	0.502000													6	45					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87724875	87724875	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:87724875G>C	uc003hpz.3	+	42	6999	c.6519G>C	c.(6517-6519)ctG>ctC	p.L2173L	PTPN13_uc003hpy.3_Silent_p.L2178L|PTPN13_uc003hqa.3_Silent_p.L2154L|PTPN13_uc003hqb.3_Silent_p.L1982L|PTPN13_uc003hqc.1_Silent_p.L539L	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2173						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTCCTTTCTGACAAACGATG	0.423000													8	82					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14578566	14578566	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14578566C>G	uc002myp.3	+	13	2013	c.1845C>G	c.(1843-1845)ttC>ttG	p.F615L	PKN1_uc002myq.3_Missense_Mutation_p.F621L	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	615	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCGAAGATTTCAAGTTCCTGG	0.632000													7	74					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445612	144445612	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:144445612C>G	uc003ijg.3	+	3	974	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	171					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTTGAAGACTCTCCATCGTGT	0.378000													5	41					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130356587	130356587	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:130356587G>C	uc003vqi.3	-	6	1029	c.572C>G	c.(571-573)tCa>tGa	p.S191*	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.3_Nonsense_Mutation_p.S191*	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	191										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTAGACTTTTGAATACTTCCC	0.423000													14	57					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30989971	30989971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:30989971C>G	uc003xio.4	+	23	3704	c.2916C>G	c.(2914-2916)atC>atG	p.I972M	WRN_uc010lvk.3_Missense_Mutation_p.I439M	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	972					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTGGACATCTTAGGCGAAA	0.368000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	21					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:99294911C>G	uc002sze.3	-	2	432	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	MGAT4A_uc010fil.3_5'UTR	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	40					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338000													5	26					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13463939	13463939	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:13463939G>C	uc002woi.3	-	10	1037	c.920C>G	c.(919-921)tCa>tGa	p.S307*	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc010zrj.1_Non-coding_Transcript	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	307					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	p.C306C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TAAAGCATGTGAACATTCTCT	0.418000													9	107					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318236	3318236	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:3318236C>T	uc003ggw.3	+	1	1243	c.339C>T	c.(337-339)ctC>ctT	p.L113L	RGS12_uc003ggu.2_Silent_p.L113L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.L113L|RGS12_uc003ggx.1_Silent_p.L113L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	113						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGGGGACTCTATGAAGGAA	0.488000													4	71					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2303970	2303970	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:2303970G>A	uc002fur.3	-	0	289	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	13					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGCCATTCCAGGAAGCGGGCC	0.731000													9	3					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951728	37951728	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:37951728G>A	uc003tfo.4	-	3	1170	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	262	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TACCTTGAGCGCCACTCGTAA	0.443000													7	61					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900755	28900755	+	RNA	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:28900755A>G	uc010uan.1	+	2		c.686A>G			HERC2P9_uc010azc.3_Intron|HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		TCCCTGACTCAGTGGAATGGG	0.617000													4	28					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16901059	16901059	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:16901059C>G	uc003sts.3	-	5	389	c.316G>C	c.(316-318)Gat>Cat	p.D106H		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	106						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AAATTCTTATCAGTGGTTTCA	0.318000													5	54					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148899820	148899820	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:148899820C>G	uc003ewy.4	-	13	2779	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_5'Flank|CP_uc003ewx.4_Missense_Mutation_p.E623D|CP_uc003ewz.3_Missense_Mutation_p.E842D	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	842	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGTAGAACTCTCTGTTTGTA	0.468000													11	88					0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88780614	88780614	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88780614C>T	uc010chz.3	+	9	1337	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CTU2_uc002flm.3_Missense_Mutation_p.S359F|CTU2_uc002fln.3_Missense_Mutation_p.S359F|CTU2_uc010cia.3_Missense_Mutation_p.S272F	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	359					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTTCCCCTCCACTGTCAGC	0.627000													8	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683260	100683260	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683260G>A	uc003uxp.1	+	2	8616	c.8563G>A	c.(8563-8565)Gaa>Aaa	p.E2855K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2855	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGGTATCGT	0.507000													8	587					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268424	43268424	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:43268424A>G	uc002ouo.2	-	1	172	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.L25S|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	25						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGAAGTTTAAAAGTGATGC	0.478000													11	146					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133185774	133185774	+	Missense_Mutation	SNP	C	C	A	rs140878916		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:133185774C>A	uc003epn.1	+	4	1132	c.994C>A	c.(994-996)Cag>Aag	p.Q332K		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	332	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCAGAGCCTCCAGGCTGAGAC	0.537000													6	68					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:8406128G>A	uc002knn.4	+	30	4830	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_uc010dkv.3_Missense_Mutation_p.E1456K|PTPRM_uc010wzl.2_Missense_Mutation_p.E1230K	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1443	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453000													5	42					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:40636563C>A	uc002yxk.2	-	16	2003	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.D570Y|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.D23Y|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.D290Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373000													6	22					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279214	16279214	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:16279214C>T	uc010gqp.2	-	3	1061	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.A56T|POTEH_uc002zlj.1_Missense_Mutation_p.A172T	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	337								p.A337S(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATCCAGTGCATTTAAATTT	0.313000													11	233					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63053311	63053311	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:63053311C>A	uc002sby.3	+	5	884	c.402C>A	c.(400-402)gtC>gtA	p.V134V	EHBP1_uc010fcp.3_Silent_p.V134V|EHBP1_uc010fcq.1_Silent_p.V134V|EHBP1_uc002sbx.2_Silent_p.V134V|EHBP1_uc002sbz.3_Silent_p.V134V|EHBP1_uc002scb.3_Silent_p.V134V	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	134						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGACTGATGTCAAGTTAAAAT	0.398000													7	42					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134563349	134563349	+	Splice_Site	SNP	G	G	A	rs142848612		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:134563349G>A	uc001llp.3	+	11	1151	c.903_splice	c.e11+1	p.A301_splice	INPP5A_uc001llo.1_Splice_Site_p.A301_splice|INPP5A_uc001llq.3_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	301					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		ACGGCACCGCGGTGAGTTTGT	0.562000													17	81					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765171	92765171	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:92765171G>A	uc003umh.1	-	4	1330	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SAMD9L_uc003umj.1_Silent_p.L38L|SAMD9L_uc003umi.1_Silent_p.L38L|SAMD9L_uc010lfb.1_Silent_p.L38L|SAMD9L_uc003umk.1_Silent_p.L38L|SAMD9L_uc010lfc.1_Silent_p.L38L|SAMD9L_uc010lfd.1_Silent_p.L38L|SAMD9L_uc022ahh.1_Silent_p.L38L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	38	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTTCACTGAGCAGAATTT	0.398000													4	85					0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114856633	114856633	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:114856633G>T	uc004eqe.3	+	2	283	c.149G>T	c.(148-150)gGa>gTa	p.G50V	PLS3_uc010nqf.3_Non-coding_Transcript|PLS3_uc010nqg.3_Missense_Mutation_p.G50V|PLS3_uc004eqd.3_Missense_Mutation_p.G50V|PLS3_uc011mtf.2_Missense_Mutation_p.G28V|PLS3_uc011mth.2_Missense_Mutation_p.G5V|PLS3_uc011mtg.2_Missense_Mutation_p.G50V	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	50						cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCATTACCAGGATATAAAGTG	0.353000													9	76					0	0	1	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:125647396T>C	uc003eid.4	+	4		c.472T>C			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		TGTTTCCCTATGAAGAGCACT	0.502000													4	119					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30088967	30088967	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:30088967C>T	uc003taq.3	+	4	968	c.566C>T	c.(565-567)tCa>tTa	p.S189L	PLEKHA8_uc022aba.1_Missense_Mutation_p.S189L|PLEKHA8_uc003tan.3_Missense_Mutation_p.S189L	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	189					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCACCAGGATCACCTCAGCTG	0.458000													8	91					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653081	46653081	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:46653081C>G	uc003bhh.3	-	0	6139	c.6139G>C	c.(6139-6141)Gat>Cat	p.D2047H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2047					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAATGTGATCTACCTGAGAA	0.428000													8	64					0	0	1	0	0
DQ576041	0	broad.mit.edu	37	15	21326223	21326223	+	RNA	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:21326223C>T	uc010tzh.2	-	0		c.18G>A								Homo sapiens piRNA piR-44151, complete sequence.																		GATGCCACGTCCATTTGCTTC	0.627000													3	7					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692637	23692637	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:23692637G>A	uc003zpu.3	-	6	1273	c.998C>T	c.(997-999)gCg>gTg	p.A333V	ELAVL2_uc003zps.3_Missense_Mutation_p.A320V|ELAVL2_uc003zpt.3_Missense_Mutation_p.A320V|ELAVL2_uc003zpv.3_Missense_Mutation_p.A333V|ELAVL2_uc003zpw.3_Missense_Mutation_p.A320V	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	333	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCTAGCTATCGCCATGGCAGC	0.453000													19	44					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915596	48915596	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:48915596A>G	uc002rwu.4	-	10	1410	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	447					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.T446N(1)		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)	ACTTGCGAATACAGTGAAAAA	0.488000													11	76					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:45718018G>C	uc002xsm.3	+	7	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_uc010ghp.3_Missense_Mutation_p.E268Q|EYA2_uc002xsq.3_Missense_Mutation_p.E268Q	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	268					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587000													4	63					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715961	25715961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:25715961G>A	uc003xes.2	-	13	1667	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	468	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTAGACTGTTGAGGCGTGGAG	0.502000													7	69					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233393337	233393337	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:233393337C>T	uc002vsw.3	+	4	484	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Silent_p.F145F|CHRND_uc010zmh.2_Missense_Mutation_p.S70L	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	160					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.F160F(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATTTCCCCTTCGACTGGCAGA	0.577000													24	115					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26939325	26939325	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26939325C>G	uc010crq.2	-	5	639	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Missense_Mutation_p.E203Q	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	992					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGGAAGCCTCAGGAAAGCAG	0.498000													7	62					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45642401	45642401	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45642401G>A	uc001wwd.4	+	12	2403	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	FANCM_uc010anf.3_Missense_Mutation_p.M742I|FANCM_uc001wwe.4_Missense_Mutation_p.M304I|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	768					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGAGGGAATGAGACACGAAG	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	48					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600930	27600930	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27600930G>C	uc002rkk.3	-	3	1326	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	ZNF513_uc002rkj.3_Missense_Mutation_p.H308D	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	370					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGATAGTGAGTGGCAAAG	0.632000													18	150					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984677	158984677	+	Silent	SNP	C	C	T	rs144369567	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158984677C>T	uc001ftg.3	+	1	497	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_uc010pis.2_Silent_p.F69F|IFI16_uc010pit.2_Silent_p.F69F|IFI16_uc001ftf.1_Silent_p.F69F	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	69	DAPIN.|Lys-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388000													7	93					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339176	13339176	+	RNA	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:13339176C>T	uc003gms.3	+	0		c.4140C>T								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						CTATGTCCATCGTGTGTTCAT	0.433000													4	36					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088726	65088726	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:65088726C>T	uc021qli.1	+	0	357	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CDC42EP2_uc001odl.3_Silent_p.L119L	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	119					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCCAGGCTCTCACCCTGCCCA	0.692000													13	77					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994908	49994908	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:49994908C>T	uc001ruo.3	-	3	688	c.515G>A	c.(514-516)cGc>cAc	p.R172H	FAM186B_uc010smk.2_Missense_Mutation_p.R82H	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	172						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGAAGGTGCGTTTGGACAC	0.527000													4	70					0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785380	178785380	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:178785380G>A	uc003fjg.3	-	1	492	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMAT3_uc003fji.3_Missense_Mutation_p.S54L	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	54					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCCTCCCTTCGATAACTCTTC	0.552000													15	76					0	0	1	0	0
PRRT1	80863	broad.mit.edu	37	6	32117019	32117019	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32117019C>T	uc003nzu.3	-	5	843	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	PRRT1_uc003nzs.3_Missense_Mutation_p.E342K|PRRT1_uc003nzt.3_Missense_Mutation_p.E301K			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	58					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CAGTAGTTCTCGTGGTGCTGC	0.627000													11	30					0	0	1	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72419073	72419073	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:72419073C>A	uc003two.3	-	6	989	c.798G>T	c.(796-798)aaG>aaT	p.K266N	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.K266N|NSUN5P2_uc003twm.3_Missense_Mutation_p.K242N|NSUN5P2_uc003twp.3_3'UTR|NSUN5P2_uc003twq.3_3'UTR|NSUN5P2_uc010lan.2_3'UTR					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						TTGCTCTCTTCTTTCTCTTTG	0.552000													12	60					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261782	1261782	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:1261782G>C	uc002cks.3	+	23	4791	c.4543G>C	c.(4543-4545)Gat>Cat	p.D1515H	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1515H|CACNA1H_uc002cku.3_Missense_Mutation_p.D221H|CACNA1H_uc010brj.3_Missense_Mutation_p.D221H|CACNA1H_uc002ckv.3_Missense_Mutation_p.D221H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1515					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGACGGGCTGGATGCCGTGGG	0.662000													8	73					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:24523840G>C	uc002wtw.1	+	1	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	36					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.R36T(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562000													7	76					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291464	62291464	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:62291464G>A	uc002jed.3	-	1	265	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX2_uc002jec.3_Silent_p.F38F|TEX2_uc002jee.3_Silent_p.F38F	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	38					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGATGCCGAGAAGTGAATGG	0.562000													10	84					0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183615	13183615	+	Silent	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:13183615T>C	uc010obg.2	-	1	501	c.258A>G	c.(256-258)gcA>gcG	p.A86A		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	86						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTTTTGGCTCTGCAGCCAGGT	0.493000													5	38					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6499537	6499537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6499537C>A	uc002gde.4	-	14	2658	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	KIAA0753_uc010vtd.2_Nonsense_Mutation_p.E223*|KIAA0753_uc010clo.3_Nonsense_Mutation_p.E468*|KIAA0753_uc010vte.2_Nonsense_Mutation_p.E468*	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	767						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGCTGTCCTCAACGGTGGCT	0.522000													18	135					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121393333	121393333	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:121393333C>T	uc001pxx.3	+	9	1572	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	481					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCAGCGCCTCAGTCAGCTCC	0.547000													15	195					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43298817	43298817	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:43298817C>G	uc002yzq.1	-	2	511	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACTCAGCTTCTCTAAACGCG	0.642000													3	13					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683261	100683261	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683261A>T	uc003uxp.1	+	2	8617	c.8564A>T	c.(8563-8565)gAa>gTa	p.E2855V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2855	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTGCTGAAGGTATCGTC	0.512000													6	596					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64033632	64033632	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:64033632C>G	uc009ypi.3	+	26	3351	c.3224C>G	c.(3223-3225)gCa>gGa	p.A1075G	PLCB3_uc009ypg.2_Missense_Mutation_p.A1075G|PLCB3_uc009yph.2_Missense_Mutation_p.A1008G	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	1075					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCCTTGATGCAAACACAACT	0.567000													10	164					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282685	53282685	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:53282685C>T	uc001vhf.2	-	5	886	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LECT1_uc001vhg.2_Missense_Mutation_p.D259N|LECT1_uc001vhh.2_Missense_Mutation_p.D248N	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	259					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TAAGGATTATCAGGATTGAAG	0.483000													4	25					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153948312	153948312	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:153948312C>T	uc001fds.3	-	3	997	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_006694	NP_006685	O76095	JTB_HUMAN	Homo sapiens jumping translocation breakpoint (JTB), mRNA.	92					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTTGAACTCATTTCTCTTA	0.463000													6	135					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:151095894G>C	uc003eyp.3	+	28	4435	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	MED12L_uc011bnz.2_Missense_Mutation_p.E1296Q|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.E599Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1436					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537000													6	58					0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79615062	79615062	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:79615062C>A	uc010die.3	+	3	906	c.800C>A	c.(799-801)gCa>gAa	p.A267E	TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	269						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATGCGGACGCAGCTCAGAGA	0.711000													4	16					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76928925	76928925	+	Silent	SNP	C	C	T	rs1064439		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:76928925C>T	uc001xsr.3	+	4	806	c.435C>T	c.(433-435)tgC>tgT	p.C145C	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.C145C	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCAACGAGTGCGAGATCACCA	0.632000													22	52					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363565	10363565	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:10363565G>C	uc002gmn.3	-	12	1332	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	407	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V407V(2)|p.R406S(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCCGACCTTGACTCTGGGAT	0.453000													5	80					0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332269	1332269	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1332269C>T	uc003gda.3	+	7	989	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.S279F|MAEA_uc011bvb.2_Missense_Mutation_p.S252F|MAEA_uc003gdc.3_Missense_Mutation_p.S252F|MAEA_uc011bvc.2_Missense_Mutation_p.S319F|MAEA_uc011bvd.2_Missense_Mutation_p.S272F|MAEA_uc010ibt.3_Missense_Mutation_p.S93F	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	320					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.R319C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGCAGCCGCTCCCTGAACAAG	0.632000													9	43					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045690	193045690	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:193045690G>C	uc001gss.3	+	3	1237	c.861G>C	c.(859-861)aaG>aaC	p.K287N	TROVE2_uc001gsu.2_Missense_Mutation_p.K12N|TROVE2_uc001gsv.2_Missense_Mutation_p.K287N|TROVE2_uc009wyp.3_Missense_Mutation_p.K287N|TROVE2_uc001gsw.3_Missense_Mutation_p.K287N|TROVE2_uc009wyq.3_Missense_Mutation_p.K287N|TROVE2_uc001gsx.2_Missense_Mutation_p.K287N	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	287	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCTAGGAAAGATGACTGCTA	0.338000													8	67					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52416726	52416726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52416726G>A	uc002abt.1	-	11	1185	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	GNB5_uc002abr.1_Nonsense_Mutation_p.R332*|GNB5_uc002abs.1_Nonsense_Mutation_p.R262*	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	374						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGGGAAACTCGTAGAGTGCTA	0.488000													7	122					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100205244	100205244	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:100205244C>T	uc003yiv.3	+	16	2585	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	VPS13B_uc003yiw.3_Missense_Mutation_p.A825V|VPS13B_uc003yit.3_Missense_Mutation_p.A825V|VPS13B_uc003yiu.1_Missense_Mutation_p.A825V|VPS13B_uc003yix.1_Missense_Mutation_p.A296V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	825					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTCTTCCGCAGTGATTGAA	0.358000													4	38					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94740446	94740446	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:94740446G>A	uc022ayd.1	+	8	894	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	FAM92A1_uc022ayc.1_3'UTR|FAM92A1_uc003yfx.4_Non-coding_Transcript|FAM92A1_uc003yfw.4_Non-coding_Transcript|FAM92A1_uc010mar.3_Missense_Mutation_p.R71Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	264										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCACTTGTCGACTAAGAAAG	0.279000													6	37					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331678	133331678	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:133331678G>C	uc001ukx.2	-	1	290	c.223C>G	c.(223-225)Ctg>Gtg	p.L75V	ANKLE2_uc001uky.3_Missense_Mutation_p.L13V	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	75	LEM.					cytoplasm|integral to membrane|nuclear envelope		p.L74V(2)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGGATTCAGAAGTTTCAAT	0.403000													10	97					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:19507020G>A	uc022btq.1	-	1	427	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	143							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488000													24	84					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73259478	73259478	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:73259478G>A	uc002jnm.4	+	3	630	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	133					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTCTGCAGAGGAACAGGCAAC	0.522000													48	426					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148344650	148344650	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:148344650C>T	uc001eqf.3	-	1	303	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc001erc.4_Intron|NBPF14_uc001erd.4_Missense_Mutation_p.E90K|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'Flank|NBPF14_uc010pav.2_Missense_Mutation_p.E90K|NBPF14_uc010paw.2_Intron	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	21						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CTGAGCTCCTCAGCTTGCTTG	0.517000													9	397					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981730	6981730	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6981730G>T	uc001qrl.3	-	1	492	c.336C>A	c.(334-336)ctC>ctA	p.L112L	SPSB2_uc001qrm.3_Silent_p.L112L|RRPL13L_uc009zff.3_5'Flank	NM_001146316	NP_116030	Q99619	SPSB2_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 2 (SPSB2), transcript variant 2, mRNA.	112	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCAGCGGGGCGAGGGCCGTGG	0.687000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	82					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526119	66526119	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:66526119G>T	uc002jhg.3	+	9	1130	c.950G>T	c.(949-951)aGa>aTa	p.R317I	PRKAR1A_uc002jhh.3_Missense_Mutation_p.R317I|PRKAR1A_uc002jhi.3_Missense_Mutation_p.R317I|PRKAR1A_uc002jhj.3_Missense_Mutation_p.R317I|PRKAR1A_uc002jhk.3_Missense_Mutation_p.R193I|PRKAR1A_uc002jhl.3_Missense_Mutation_p.R317I	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	317					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	p.G316A(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAAGTGGGAAGATTGGGGCCT	0.383000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				11	88					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179320591	179320591	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:179320591G>A	uc001gml.3	+	14	1821	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	SOAT1_uc010pni.2_Silent_p.L465L|SOAT1_uc001gmm.3_Silent_p.L472L|SOAT1_uc010pnj.2_Silent_p.L266L|SOAT1_uc010pnk.2_Silent_p.L465L	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	530					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACTGTCCTCTGAAAAATGTGA	0.438000													13	126					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48058076	48058076	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:48058076G>A	uc010bek.3	+	13	1798	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SEMA6D_uc001zvw.3_Missense_Mutation_p.E480K|SEMA6D_uc001zvy.3_Missense_Mutation_p.E480K|SEMA6D_uc001zvz.3_Missense_Mutation_p.E480K|SEMA6D_uc001zwa.3_Missense_Mutation_p.E480K|SEMA6D_uc001zwb.3_Missense_Mutation_p.E480K|SEMA6D_uc001zwc.3_Missense_Mutation_p.E480K	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	480	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGCAGTGCTGAGAATGAGGA	0.423000													13	81					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121570869	121570869	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:121570869C>T	uc001tzm.3	+	0	248	c.96C>T	c.(94-96)ttC>ttT	p.F32F	P2RX7_uc001tzn.3_5'UTR|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_5'UTR	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	32						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAAGTGGTTCTTCCACGTGA	0.527000													10	139					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303366	151303366	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:151303366C>T	uc022cgz.1	-	0	727	c.727G>A	c.(727-729)Gag>Aag	p.E243K	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E243K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E243K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E243K	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	243	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCTCCTCAGGGGTGCAG	0.512000													12	95					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955901	113955901	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:113955901C>T	uc010hqo.3	-	0	525	c.21G>A	c.(19-21)ggG>ggA	p.G7G	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	7						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(1)		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)				CTGTCCCCAACCCATCGCGTT	0.527000													9	94					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52696199	52696199	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:52696199C>T	uc003des.2	-	3	490	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E160K|PBRM1_uc003der.2_Missense_Mutation_p.E160K|PBRM1_uc003det.2_Missense_Mutation_p.E160K|PBRM1_uc003deu.2_Missense_Mutation_p.E160K|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E160K|PBRM1_uc010hmk.1_Missense_Mutation_p.E160K|PBRM1_uc003dey.2_Missense_Mutation_p.E160K|PBRM1_uc003dez.1_Missense_Mutation_p.E160K|PBRM1_uc003dfb.1_Missense_Mutation_p.E58K	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	160			E -> A (found in a malignant melanoma cell line).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E160*(4)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCATCTTCGTCATCTGCT	0.453000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								28	172					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095660	178095660	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095660G>C	uc002ulh.4	-	4	2226	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	NFE2L2_uc002ulg.4_Silent_p.L541L|NFE2L2_uc010zfa.2_Silent_p.L534L|NFE2L2_uc002uli.4_Silent_p.L541L	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	557					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATAAGGTGCTGAGTTGTTTTT	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			8	93					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607449	42607449	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42607449G>C	uc003bcj.1	-	0	3997	c.3863C>G	c.(3862-3864)tCa>tGa	p.S1288*	TCF20_uc003bck.1_Nonsense_Mutation_p.S1288*	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTTCTTTTGATGAGTGAAG	0.438000													16	87					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422324	124422324	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:124422324C>T	uc001ufw.1	-	4	424	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	CCDC92_uc001ufv.1_Missense_Mutation_p.A76T|CCDC92_uc001ufx.1_Missense_Mutation_p.A93T	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	93										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCAGTTGGGCTTCCAGCTCT	0.443000													10	156					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328522	88328522	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:88328522G>C	uc001vln.3	+	1	1098	c.879G>C	c.(877-879)gaG>gaC	p.E293D	SLITRK5_uc010tic.1_Missense_Mutation_p.E52D|SLITRK5_uc021rlc.1_Missense_Mutation_p.E293D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	293						integral to membrane		p.E293K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGACTACGAGATGAGGCCGC	0.537000													15	95					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272784	102272784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:102272784G>T	uc001pha.3	-	2	732	c.311C>A	c.(310-312)tCa>tAa	p.S104*	TMEM123_uc009yxc.3_Nonsense_Mutation_p.S85*	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Homo sapiens transmembrane protein 123 (TMEM123), mRNA.	104	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CATATTTGTTGAGACCATCCC	0.438000													19	182					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:95676969G>A	uc003ygq.4	+	6	872	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_uc003ygr.4_Missense_Mutation_p.R230Q|ESRP1_uc003ygs.4_Missense_Mutation_p.R230Q|ESRP1_uc003ygt.4_Missense_Mutation_p.R230Q|ESRP1_uc003ygu.4_Missense_Mutation_p.R230Q|ESRP1_uc003ygv.3_Missense_Mutation_p.R70Q|ESRP1_uc003ygw.3_Missense_Mutation_p.R70Q	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	230	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.R230*(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383000													8	50					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245077	33245077	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:33245077G>C	uc001bvy.1	-	11	2170	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	YARS_uc001bvw.1_Missense_Mutation_p.S121C|YARS_uc001bvx.1_Missense_Mutation_p.S112C	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	461	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ACCAGGAGCAGAGCCTGCCGG	0.527000													8	66					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306709	5306709	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:5306709G>A	uc003jdl.3	+	20	3417	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	1093	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTCAAAGAAGTGCTCAC	0.522000													8	52					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34960012	34960012	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:34960012C>A	uc002nvk.3	+	16	1879	c.1809C>A	c.(1807-1809)gtC>gtA	p.V603V	UBA2_uc002nvl.3_Silent_p.V507V	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	603					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393000													4	35					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372195	34372195	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:34372195C>G	uc003zue.4	-	2	911	c.744G>C	c.(742-744)tgG>tgC	p.W248C		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	249					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCGTGCTGTTCCAGCCCAGGT	0.687000													6	17					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45455856	45455856	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45455856G>A	uc001zus.1	+	32	4721	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	DUOX1_uc001zut.1_Missense_Mutation_p.E1459K|DUOX1_uc010bee.1_Missense_Mutation_p.E839K	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1459					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGCTGGCTGAGAAGTTCGA	0.577000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	149					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171533727	171533727	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:171533727C>G	uc003mbo.1	-	5	985	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	229	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCCATCTCAATCAGCGTG	0.597000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	63					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145567979	145567979	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:145567979G>C	uc003ijs.2	+	0	832	c.152G>C	c.(151-153)aGa>aCa	p.R51T	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.R51T	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	51	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAAAAGGAGAGACAGGAGG	0.582000													6	43					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389101	20389101	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:20389101G>T	uc010tkw.2	+	0	336	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGGAGATGGTGCTACTTG	0.428000													11	252					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88317395	88317395	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88317395G>C	uc003pmg.3	+	5	534	c.432G>C	c.(430-432)atG>atC	p.M144I	ORC3_uc011dzl.2_Missense_Mutation_p.M144I|ORC3_uc011dzm.2_Missense_Mutation_p.M144I|ORC3_uc011dzn.2_Non-coding_Transcript|ORC3_uc003pmh.3_Missense_Mutation_p.M144I|ORC3_uc011dzp.2_Missense_Mutation_p.M1I|ORC3_uc011dzo.2_Missense_Mutation_p.M1I	NM_181837	NP_862820	Q9UBD5	ORC3_HUMAN	Homo sapiens origin recognition complex, subunit 3 (ORC3), transcript variant 1, mRNA.	144					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCACAGATATGAAACATTTTT	0.338000													4	31					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108412181	108412181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:108412181C>A	uc001kyl.3	-	17	2616	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	SORCS1_uc021pxw.1_Nonsense_Mutation_p.E812*|SORCS1_uc009xxs.3_Nonsense_Mutation_p.E812*|SORCS1_uc001kym.3_Nonsense_Mutation_p.E812*|SORCS1_uc001kyn.2_Nonsense_Mutation_p.E812*|SORCS1_uc001kyo.3_Nonsense_Mutation_p.E812*	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	812	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.A811V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTCCTTGTTCCGCTGTCAGC	0.522000													10	58					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852431	215852431	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:215852431C>G	uc002vew.3	-	26	4136	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	ABCA12_uc002vev.3_Missense_Mutation_p.E988Q|ABCA12_uc010zjn.2_Missense_Mutation_p.E233Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1306					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTCTTCTCAGGCTTCACC	0.458000													9	27					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930400	46930400	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46930400G>C	uc003gxg.3	-	8	2490	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A	GABRA4_uc021xnz.1_Missense_Mutation_p.P484A|GABRA4_uc021xoa.1_Missense_Mutation_p.P433A	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	503					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGGAGGAGGAGTAGCTGAC	0.463000													8	114					0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74707950	74707950	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74707950C>T	uc001xpq.3	+	1	526	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	146					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACCAAGAAACGGAAGAAGCG	0.587000													7	50					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56492817	56492817	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:56492817G>A	uc002iwf.3	-	0	2078	c.122C>T	c.(121-123)tCa>tTa	p.S41L	RNF43_uc010wnv.2_Missense_Mutation_p.S41L|RNF43_uc002iwh.4_Missense_Mutation_p.S41L|RNF43_uc002iwg.4_Missense_Mutation_p.S41L|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	41						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.S41*(2)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTTCTGCTGATCTTTCAGA	0.537000													6	75					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107398927	107398927	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:107398927C>G	uc001tmi.3	-	2	1226	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	123	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAATGACTTCTACTCCAGCT	0.348000													8	61					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266526	42266526	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42266526G>A	uc002ifo.3	+	2	329	c.172G>A	c.(172-174)Gta>Ata	p.V58I	C17orf65_uc002ifn.3_5'Flank|TMUB2_uc002ifp.3_Missense_Mutation_p.V38I|TMUB2_uc010wiu.2_Missense_Mutation_p.V38I|TMUB2_uc002ifr.3_Missense_Mutation_p.V38I|TMUB2_uc002ift.3_Missense_Mutation_p.V38I|TMUB2_uc002ifx.3_Missense_Mutation_p.V38I|TMUB2_uc002ify.3_Non-coding_Transcript	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTACCTACGTAGCAGACAG	0.587000													16	133					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1234625	1234625	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1234625G>C	uc002lrm.2	-	5	829	c.554C>G	c.(553-555)tCa>tGa	p.S185*		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	211						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGTGGTGGCTGAGCTGGCCTC	0.672000										HNSCC(14;0.022)			8	11					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375292	8375292	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:8375292G>C	uc001qui.2	-	6	1080	c.521C>G	c.(520-522)tCt>tGt	p.S174C	FAM90A1_uc001quh.2_Missense_Mutation_p.S174C	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	174							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572000													5	95					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990855	140990855	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:140990855A>G	uc002tvj.1	-	90	14672	c.13700T>C	c.(13699-13701)aTg>aCg	p.M4567T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4567					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCCCATCCATATATAATTT	0.323000										TSP Lung(27;0.18)			4	26					0	0	1	0	0
RTP2	344892	broad.mit.edu	37	3	187416648	187416648	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:187416648C>T	uc003fro.1	-	1	745	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	106					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGCTGGACTCGTCCAGCCGC	0.652000													3	29					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563262	1563262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:1563262C>G	uc002fte.3	-	30	4933	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1607						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTACTGTCTCAATTTCCAGT	0.403000													6	73					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73850728	73850728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:73850728G>C	uc001ouu.2	-	3	856	c.629C>G	c.(628-630)tCa>tGa	p.S210*	C2CD3_uc001ouv.2_Nonsense_Mutation_p.S210*	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	210						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGAGGCCTTGATGGAACCTG	0.438000													25	170					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106774160	106774160	+	RNA	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:106774160G>A	uc021ser.1	-	683		c.18650C>T								Parts of antibodies, mostly variable regions.																		AAGACAAACCGTCCTGTGAAG	0.527000													9	26					0	0	1	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805761	27805761	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:27805761C>T	uc003njs.3	-	0	357	c.357G>A	c.(355-357)aaG>aaA	p.K119K	HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.3_5'Flank	NM_003510	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ak (HIST1H2AK), mRNA.	119					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTCAGTTTTCTTAGGCAGCA	0.552000													10	156					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665330	90665330	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:90665330C>G	uc001kfk.3	+	2	584	c.161C>G	c.(160-162)tCt>tGt	p.S54C	STAMBPL1_uc010qmx.1_Missense_Mutation_p.S54C|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.S54C|STAMBPL1_uc001kfm.3_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	54							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TACTTTAGGTCTGGAGTAGAG	0.408000													14	53					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106034391	106034391	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:106034391G>A	uc004eml.3	+	5	1330	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RNF128_uc004emk.3_Silent_p.E334E	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	360						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATCGCAGCGAGACCGCATCAT	0.448000													14	189					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:74229640C>T	uc003phi.3	-	0	1102	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_uc003phj.3_Missense_Mutation_p.R37K|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.R37K|EEF1A1_uc003phm.1_Non-coding_Transcript|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	37						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408000													5	60					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117090319G>A	uc001pqr.3	-	9	1512	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	437	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592000			T	IGH@	MLCLS								6	56					0	0	1	0	0
C22orf13	83606	broad.mit.edu	37	22	24944010	24944010	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:24944010C>G	uc003aal.2	-	2	438	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	C22orf13_uc003aah.2_Missense_Mutation_p.E54Q|C22orf13_uc003aai.4_Missense_Mutation_p.E54Q|C22orf13_uc003aaj.4_Missense_Mutation_p.E54Q|C22orf13_uc003aak.4_Missense_Mutation_p.E110Q	NM_031444	NP_113632	Q96NT3	CV013_HUMAN	Homo sapiens chromosome 22 open reading frame 13 (C22orf13), mRNA.	54										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						AGGGCTCTCTCAAACTCACTG	0.602000													6	58					0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:57843128C>T	uc003hck.3	-	0	699	c.624G>A	c.(622-624)gcG>gcA	p.A208A	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	208							GTP binding										GCCGCCGCAACGCGGCGCTCA	0.731000													5	38					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36697661	36697661	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:36697661C>A	uc003apg.3	-	20	2781	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N	MYH9_uc003aph.1_Missense_Mutation_p.K714N	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	850					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTCCTCCTTGGCCATCA	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154197759	154197759	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:154197759G>A	uc004fmt.3	-	6	1027	c.856C>T	c.(856-858)Cac>Tac	p.H286Y		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	286	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATATTGAGTGCACTTCAGGA	0.453000													29	97					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921999	103921999	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103921999C>T	uc001kup.2	+	12	2338	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	NOLC1_uc001kuo.2_Silent_p.V691V|NOLC1_uc001kuq.2_Silent_p.V692V|NOLC1_uc009xxb.1_Silent_p.V410V|NOLC1_uc001kur.2_Silent_p.V410V	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	691					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507000													32	208					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111963105	111963105	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111963105G>C	uc001tsj.3	-	5	1229	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	ATXN2_uc001tsh.3_Missense_Mutation_p.S91C|ATXN2_uc001tsi.3_Missense_Mutation_p.S67C|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.S91C	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	356					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATAGCAGAGTCAGTAAA	0.428000													7	78					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56347166G>T	uc001sij.3	+	22	2360	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_uc001sik.3_Missense_Mutation_p.G699V|DGKA_uc001sil.3_Missense_Mutation_p.G699V|DGKA_uc001sim.3_Missense_Mutation_p.G699V|DGKA_uc001sin.3_Missense_Mutation_p.G699V|DGKA_uc009zof.3_Missense_Mutation_p.G345V|DGKA_uc001sio.3_Missense_Mutation_p.G441V	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	699				G -> V (in Ref. 1; CAA44396).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G699V(2)|p.G699*(1)|p.G699R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468000													25	373					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317227	30317227	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:30317227G>T	uc009xle.2	-	2	1987	c.1850C>A	c.(1849-1851)cCg>cAg	p.P617Q	KIAA1462_uc001iux.3_Missense_Mutation_p.P617Q|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P479Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	617										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCAGAGCCGGGCTCTTATC	0.493000													26	38					0	0	1	0	0
GNG5	2787	broad.mit.edu	37	1	84967543	84967543	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:84967543G>C	uc001djw.4	-	2	546	c.192C>G	c.(190-192)gtC>gtG	p.V64V		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	64					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AAAAGGAACAGACTTTCTGGG	0.388000													6	49					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57180017	57180017	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:57180017C>T	uc010cct.2	+	15	1748	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	CPNE2_uc002eks.2_Silent_p.I441I|CPNE2_uc010ccu.2_Silent_p.I441I|CPNE2_uc002ekt.1_Silent_p.I137I	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	441	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTCCTCATCATCACGGACG	0.612000													3	15					0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33450944	33450944	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:33450944A>C	uc003cfq.4	-	5	1235	c.705T>G	c.(703-705)ttT>ttG	p.F235L	UBP1_uc003cfr.4_Missense_Mutation_p.F235L|UBP1_uc010hga.3_Missense_Mutation_p.F235L	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	235					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCTTACCTTAAAAACTTTGA	0.408000													12	54					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59132892	59132892	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:59132892C>T	uc009wab.2	-	15	1872	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	MYSM1_uc001cza.3_Missense_Mutation_p.A23T|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	617	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.C616C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGTTCTGCTGCACAGACCTAT	0.378000													5	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323322	31323322	+	Silent	SNP	G	G	A	rs115529590	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:31323322G>A	uc021sia.1	-	21	3356	c.3042C>T	c.(3040-3042)gtC>gtT	p.V1014V	TRPM1_uc010azy.3_Silent_p.V882V|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Silent_p.V997V|TRPM1_uc001zfm.3_Silent_p.V975V	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	975					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATGAGCACGACCAGCATGA	0.512000													11	56					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660535	7660535	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7660535C>T	uc002giu.1	+	11	2045	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	677	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCTGCTACTCGTTGCTAGAG	0.493000													27	227					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515420	24515420	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:24515420C>T	uc003nef.3	+	5	819	c.791C>T	c.(790-792)tCa>tTa	p.S264L	ALDH5A1_uc003neg.3_Missense_Mutation_p.S251L	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	251					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGGATTCCTTCAGGTGTATAC	0.378000													6	68					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14490983	14490983	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:14490983C>G	uc001mlh.2	-	14	2110	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	COPB1_uc001mli.2_Missense_Mutation_p.E622Q|COPB1_uc001mlg.2_Missense_Mutation_p.E622Q	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	622					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGTGAACATTCAGACAAGACC	0.388000													4	59					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7695897	7695897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:7695897G>A	uc003jdz.1	+	5	969	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ADCY2_uc011cmo.1_Missense_Mutation_p.R121Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	301					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R301W(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCTTTACCCGGCTGGCAAGT	0.413000													17	26					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723537	48723537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48723537C>T	uc001rrm.3	+	0	775	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	155	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGAGCTCCCGGAGGCGCCG	0.711000													6	11					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64913964	64913964	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:64913964C>T	uc003jty.3	-	1	286	c.200G>A	c.(199-201)gGa>gAa	p.G67E	TRIM23_uc003jtw.3_Missense_Mutation_p.G67E|TRIM23_uc003jtx.3_Missense_Mutation_p.G67E	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	67					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GATTGCTCTTCCATGAAGAGG	0.413000													4	55					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35561242	35561242	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35561242G>A	uc003zww.3	+	11	4669	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.D1472N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1472	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACAAAGGAGACATCCTACG	0.652000													8	80					0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826306	83826306	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:83826306G>A	uc002bjs.1	-	3	475	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	107					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGTTTCTGAAGAGCTCTGTTG	0.348000													6	22					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75883653	75883653	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:75883653C>T	uc001jwf.3	-	8	1602	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	AP3M1_uc001jwg.3_Missense_Mutation_p.R391H|AP3M1_uc001jwh.3_Missense_Mutation_p.R391H|AP3M1_uc010qla.2_Missense_Mutation_p.R337H	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	391	MHD.				protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CATGTCCAAACGGTTTACTTT	0.353000													18	68					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133789788	133789788	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:133789788G>T	uc001qgx.4	-	17	4063	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1278	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGTGGCCAGAGTGGTGAAG	0.677000													5	30					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138630629	138630629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:138630629C>T	uc004fas.1	+	4	528	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	F9_uc004fat.1_Nonsense_Mutation_p.Q129*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	167	EGF-like 2.		Q -> H (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGCAGAAAACCAGAAGTCCTG	0.348000													5	55					0	0	1	0	0
EIF1	10209	broad.mit.edu	37	17	39846029	39846029	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:39846029G>C	uc002hxj.3	+	2	196	c.32_splice	c.e2-1	p.D11_splice	JUP_uc010wfs.2_Intron|EIF1_uc002hxk.3_Intron	NM_005801	NP_005792	P41567	EIF1_HUMAN	Homo sapiens eukaryotic translation initiation factor 1 (EIF1), mRNA.	11					regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTTTTTTCAGACCCCTTTGC	0.483000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803866	27803866	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27803866G>C	uc002rkz.4	+	0	4478	c.4427G>C	c.(4426-4428)aGa>aCa	p.R1476T	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1476										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTGAGAACTGTTCAA	0.473000													18	141					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845724	52845724	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:52845724G>C	uc001sak.3	-	0	187	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	47	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.G46C(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCGCCACCCAGGCCACCACTG	0.667000													5	242					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191844515	191844515	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:191844515G>T	uc010fse.2	-	18	2142	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	STAT1_uc021vue.1_Silent_p.L382L|STAT1_uc002usj.2_Silent_p.L570L|STAT1_uc002usk.2_Silent_p.L570L|STAT1_uc002usl.2_Silent_p.L572L	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	570					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCAGAGAGGGAGCAGGTGTT	0.388000													4	28					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42968533	42968533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42968533G>T	uc003bcr.3	+	10	925	c.823G>T	c.(823-825)Gag>Tag	p.E275*	SERHL2_uc010gyz.3_Nonsense_Mutation_p.E211*|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	275						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CACCCTCAAAGAGGTAAGACG	0.527000													5	73					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116460310	116460310	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116460310G>A	uc001tvw.3	-	4	631	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	192					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTCCTCATTGATCAAATAAA	0.463000													4	24					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432775	45432775	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45432775C>G	uc001wvw.3	+	0	1360	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	FAM179B_uc001wvv.3_Missense_Mutation_p.P384R|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.P384R|FAM179B_uc001wvu.3_Missense_Mutation_p.P384R	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	384							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAATTTAACCCTAGTTCTACT	0.423000													4	65					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131179290	131179290	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:131179290C>G	uc003qch.2	-	18	3186	c.3004G>C	c.(3004-3006)Gaa>Caa	p.E1002Q	EPB41L2_uc003qce.1_Missense_Mutation_p.E380Q|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Missense_Mutation_p.E849Q|EPB41L2_uc003qcg.1_Missense_Mutation_p.E744Q|EPB41L2_uc003qci.3_Missense_Mutation_p.E849Q|EPB41L2_uc011eby.2_Missense_Mutation_p.E670Q|EPB41L2_uc010kfk.2_Missense_Mutation_p.E670Q|EPB41L2_uc003qcd.1_Missense_Mutation_p.E163Q	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	1002	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTTCCCCTTCCTCAGCCAAC	0.502000													21	148					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248637188C>T	uc001iel.1	+	0	537	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CTAGGAAAATCCTGAGTTTTT	0.522000													4	131					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48189070	48189070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48189070C>T	uc010slo.2	-	10	1376	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Missense_Mutation_p.R357Q|HDAC7_uc001rqk.4_Missense_Mutation_p.R377Q	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	355	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGAGCGAGTCCGGCTCAGTGG	0.677000													20	41					0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16795169	16795170	+	RNA	INS	-	-	TG	rs142896042	by1000genomes	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:16795169_16795170insTG	uc001ayt.2	-	14		c.4129_4130insCA								Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		TTGAAGGTGACTGGTCACACCA	0.460													3	3	---	---	---	---					
ZSWIM5	57643	broad.mit.edu	37	1	45553866	45553867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:45553866_45553867delAG	uc001cnd.2	-	1	866_867	c.638_639delCT	c.(637-639)tctfs	p.S213fs		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	213							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGCTGGTTCAGAGGCAGTGGC	0.421													7	61	---	---	---	---					
NCKIPSD	51517	broad.mit.edu	37	3	48720447	48720448	+	Splice_Site	INS	-	-	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:48720447_48720448insG	uc003cun.3	-	2	266	c.172_splice	c.e2-1	p.G58_splice	NCKIPSD_uc003cum.3_Splice_Site_p.G58_splice|NCKIPSD_uc010hkh.2_Splice_Site_p.G58_splice	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	58	SH3.	Breakpoint for translocation to form MLL- AF3P21 oncogene.			NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding	p.?(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGGCCCTGGGGGGGGCAG	0.619													2	4	---	---	---	---					
SDHA	6389	broad.mit.edu	37	5	251704	251704	+	Frame_Shift_Del	DEL	G	G	-	rs111797600	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:251704delG	uc011clv.1	+	12	2030	c.1915delG	c.(1915-1917)gccfs	p.A639fs	SDHA_uc003jao.4_Intron|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_Intron|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	0					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCCAAAAAATGCCTTTTTCCC	0.517									Familial Paragangliomas				4	2	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610355	128610356	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:128610355_128610356delAA	uc010lly.2	-	19	2949_2950	c.2546_2547delTT	c.(2545-2547)tttfs	p.F849fs	TNPO3_uc010llx.2_Frame_Shift_Del_p.F226fs|TNPO3_uc003vol.2_Frame_Shift_Del_p.F815fs|TNPO3_uc010llz.2_Frame_Shift_Del_p.F751fs|TNPO3_uc003vom.2_Frame_Shift_Del_p.F749fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	815					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCCGTAATTCAAAGTCTTCTTC	0.455													49	177	---	---	---	---					
