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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CD163L1	283316	broad.mit.edu	37	12	7586252	7586252	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7586252C>T	uc010sge.2	-	2	189	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	CD163L1_uc001qsy.3_Missense_Mutation_p.G55S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	55	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGGGACCGTCTCCATTG	0.468000														78			30		0	0	0.008361	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957173	33957173	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:33957173G>A	uc001bxj.4	+	5	1482	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	ZSCAN20_uc001bxk.2_Missense_Mutation_p.E385K|ZSCAN20_uc009vui.3_Missense_Mutation_p.E439K	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	439					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGATGGATGAGCAGGAGGA	0.612000														54			39		0	0	0.005524	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677341	3677341	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:3677341G>A	uc002wja.3	-	9	2575	c.2575C>T	c.(2575-2577)Ctg>Ttg	p.L859L	SIGLEC1_uc002wiz.4_Silent_p.L859L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	859	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTAACTTCAGGGAGTTGGCC	0.587000														70			14		0	0	0.002450	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832445	34832445	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:34832445T>C	uc002nvd.4	+	9	2465	c.1606T>C	c.(1606-1608)Ttc>Ctc	p.F536L		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	536										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAGAAGACATTCTCCAAACT	0.463000														79			13		0	0	0.013537	0	0
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:40735471G>A	uc002xkg.3	-	23	3529	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_uc010ggj.3_Silent_p.C1134C|PTPRT_uc010ggi.3_Silent_p.C318C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1115	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G1114G(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582000														61			28		0	0	0.004656	0	0
TRO	7216	broad.mit.edu	37	X	54952877	54952877	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:54952877G>A	uc004dtq.3	+	7	1719	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	TRO_uc004dts.3_Missense_Mutation_p.V538M|TRO_uc004dtr.3_Missense_Mutation_p.V538M|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.V141M|TRO_uc011mok.2_Missense_Mutation_p.V69M|TRO_uc004dtw.3_Missense_Mutation_p.V141M|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	538	MAGE.				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						TCTCCTCATGGTGATTCTGAG	0.478000														24			7		0	0	0.001984	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	C	C	rs712666	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:112227939T>C	uc021ycm.1	+	0	631	c.603T>C	c.(601-603)tcT>tcC	p.S201S	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;									p.S201S(2)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000														127			7		0	0	0.004482	0	0
NBEA	26960	broad.mit.edu	37	13	36242525	36242525	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:36242525C>T	uc021rid.1	+	56	9153	c.8619C>T	c.(8617-8619)gaC>gaT	p.D2873D	NBEA_uc021ric.1_Silent_p.D2870D|NBEA_uc010abi.3_Silent_p.D1531D|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.D666D|NBEA_uc001uvd.3_Silent_p.D451D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2873						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAGCAGTGACGGCCAGAACC	0.433000														9			8		0	0	0.003080	0	0
ARMC3	219681	broad.mit.edu	37	10	23290958	23290958	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr10:23290958G>A	uc001irm.4	+	11	1619	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	ARMC3_uc010qcv.2_Silent_p.L512L|ARMC3_uc010qcw.2_Silent_p.L249L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	512							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGACGAGCTGACGGCCAATG	0.547000														55			4		0	0	0.009096	0	0
OR2T35	403244	broad.mit.edu	37	1	248801904	248801904	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:248801904G>A	uc001ies.1	-	0	656	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGATGTGCGTGTAGGACAC	0.522000														64			5		0	0	0.000602	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99313217	99313217	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:99313217A>G	uc003htw.4	+	5	816	c.626A>G	c.(625-627)aAt>aGt	p.N209S	RAP1GDS1_uc003htx.4_Missense_Mutation_p.N208S|RAP1GDS1_uc003htv.4_Missense_Mutation_p.N209S|RAP1GDS1_uc003htz.4_Missense_Mutation_p.N159S|RAP1GDS1_uc003hty.4_Missense_Mutation_p.N160S|RAP1GDS1_uc003hua.4_Intron	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	208							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GCATTTGGTAATTTAGCAGAA	0.333000			T	NUP98	T-ALL									35			19		0	0	0.010504	0	0
MLNR	2862	broad.mit.edu	37	13	49796306	49796306	+	Silent	SNP	C	T	T	rs150012357		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:49796306C>T	uc010tgj.2	+	1	1032	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	344					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TGCAACTTTTCTATCTGAGCG	0.473000														168			22		0	0	0.014323	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									36			23		0	0	0.014323	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698629	111698629	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:111698629C>T	uc022cct.1	+	0	673	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	ZCCHC16_uc004epo.1_Missense_Mutation_p.L225F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	225							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGGCCAGAGCTCCTACAGTC	0.498000														84			7		0	0	0.001984	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900030	112900030	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr9:112900030G>A	uc004bei.2	+	8	3094	c.2902G>A	c.(2902-2904)Gca>Aca	p.A968T	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A546T|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.A594T|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.A594T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A554T|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.A505T|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.A505T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	505							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TGACAGCGGGGCATCCAATGA	0.522000														109			6		0	0	0.001168	0	0
HNF1B	6928	broad.mit.edu	37	17	36093661	36093661	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:36093661C>T	uc002hok.4	-	2	919	c.698G>A	c.(697-699)cGc>cAc	p.R233H	HNF1B_uc021tvu.1_Missense_Mutation_p.R3H|HNF1B_uc010wdi.2_Missense_Mutation_p.R207H|HNF1B_uc021tvv.1_Missense_Mutation_p.R233H|HNF1B_uc021tvw.1_Missense_Mutation_p.R207H|HNF1B_uc010cve.1_Missense_Mutation_p.R41H	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	233					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R232C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAACCGGTTGCGGCGCATCTT	0.567000														99			16		0	0	0.004007	0	0
OR10H3	26532	broad.mit.edu	37	19	15852507	15852507	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:15852507T>A	uc010xoq.2	+	0	305	c.305T>A	c.(304-306)aTg>aAg	p.M102K		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCCATTCAGATGTTCTTCTCC	0.493000														352			30		0	0	0.008361	0	0
TNRC18	84629	broad.mit.edu	37	7	5410227	5410227	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:5410227G>C	uc003soi.4	-	10	4347	c.3998C>G	c.(3997-3999)cCc>cGc	p.P1333R		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1333							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGACTGGGCAGGAACTG	0.701000														16			4		0	0	0.009096	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186281	37186281	+	RNA	SNP	G	C	C	rs4795331	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:37186281G>C	uc002hrd.1	+	0		c.123G>C								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TACAGCTCAGGTCTCAGGGCC	0.537000														49			5		0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103216083	103216083	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:103216083T>C	uc022ajr.1	-	28	4375	c.4215A>G	c.(4213-4215)ggA>ggG	p.G1405G	RELN_uc022ajq.1_Silent_p.G1405G|RELN_uc010liz.3_Silent_p.G1405G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1405					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.G1405*(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATATGTACACTCCATCTAAAC	0.478000														86			10		0	0	0.010729	0	0
IGBP1P1	280655	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	C	C	rs1967723	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:35409214T>C	uc010tpo.1	+	0		c.87T>C								Homo sapiens immunoglobulin (CD79A) binding protein 1 pseudogene 1 (IGBP1P1), non-coding RNA.																		CAACTTCTAATTCATCTCGCC	0.448000														68			8		0	0	0.004482	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														14			6		0	0	0.001168	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Missense_Mutation	SNP	G	A	A	rs4968502	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:60351457G>A	uc002izq.2	-	1	132	c.20C>T	c.(19-21)gCg>gTg	p.A7V	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CCAACTACCCGCGACCTCTAC	0.537000														446			19		0	0	0.005443	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815104	1815104	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:1815104G>A	uc010uvl.2	+	19	2491	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.A790T|MAPK8IP3_uc002cml.3_Missense_Mutation_p.A780T|MAPK8IP3_uc021tah.1_Missense_Mutation_p.A784T	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	790					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GATCATCGACGCCAACCAGCC	0.637000														31			17		0	0	0.004007	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617222	183617222	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:183617222A>T	uc021pgc.1	-	0	695	c.695T>A	c.(694-696)aTa>aAa	p.I232K	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_Missense_Mutation_p.I232K	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	232					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TACGCCTGTTATGGCATTGAT	0.428000														117			10		0	0	0.013537	0	0
TEP1	7011	broad.mit.edu	37	14	20848403	20848403	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:20848403T>G	uc001vxe.3	-	33	5034	c.4994A>C	c.(4993-4995)aAt>aCt	p.N1665T	TEP1_uc010ahk.3_Missense_Mutation_p.N1008T|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.N1557T|TEP1_uc010tlh.1_Missense_Mutation_p.N3T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1665					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTGCTGATTTTTCATGGT	0.522000														160			13		0	0	0.002450	0	0
XPO6	23214	broad.mit.edu	37	16	28145181	28145181	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:28145181G>A	uc002dpa.1	-	10	2018	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	XPO6_uc002dpb.1_Missense_Mutation_p.T492M|XPO6_uc010vcp.1_Missense_Mutation_p.T506M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	506					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAAGGCGTGCGTGGGCAGGAG	0.582000														19			17		0	0	0.006122	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384474	8384474	+	RNA	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:8384474C>T	uc010sgk.2	-	4		c.1314G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGGCCAGAAGCTGAAATGACG	0.577000														13			4		0	0	0.009096	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253232	24253232	+	Splice_Site	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:24253232G>C	uc003xdz.2	+	5	584	c.364_splice	c.e5-1	p.E122_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.E43_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.E43_splice	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	122					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCCACTCCAGGAACACTGTT	0.358000														60			5		0	0	0.000602	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														75			7		0	0	0.001984	0	0
DEK	7913	broad.mit.edu	37	6	18249993	18249993	+	Silent	SNP	A	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:18249993A>C	uc003ncr.1	-	6	844	c.651T>G	c.(649-651)gcT>gcG	p.A217A	DEK_uc011djf.1_Silent_p.A183A|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	217					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGTTCGCTTAGCCTTCCTTG	0.353000			T	NUP214	AML									70			8		0	0	0.006214	0	0
NBPF4	148545	broad.mit.edu	37	1	108918854	108918854	+	RNA	SNP	C	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:108918854C>G	uc001dvq.3	+	1		c.293C>G				NM_001143989		Q96M43	NBPF4_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 4 (NBPF4), mRNA.							cytoplasm				endometrium(2)|lung(1)|skin(1)	4						TCCGAGACCTCAAAGAGAAGT	0.478000														2			12		0	0	0.013537	0	0
IL31RA	133396	broad.mit.edu	37	5	55212764	55212764	+	Missense_Mutation	SNP	G	A	A	rs144592181	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:55212764G>A	uc003jql.3	+	14	2303	c.2111G>A	c.(2110-2112)cGt>cAt	p.R704H	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.R685H|IL31RA_uc003jqo.3_Missense_Mutation_p.R562H	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	672					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAATACCTACGTTCGAGGATG	0.527000														86			5		0	0	0.001168	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035065	48035065	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:48035065G>T	uc003gxw.3	+	3	492	c.426G>T	c.(424-426)ttG>ttT	p.L142F		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	142						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CTGCCACCTTGGTCACCCCTC	0.428000														34			29		3.80469e-20	4.05418e-20	0.009535	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36226110	36226110	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:36226110T>C	uc001wtj.3	-	6	943	c.552A>G	c.(550-552)caA>caG	p.Q184Q	RALGAPA1_uc001wti.3_Silent_p.Q184Q|RALGAPA1_uc010tpv.2_Silent_p.Q184Q|RALGAPA1_uc010tpw.1_Silent_p.Q184Q|RALGAPA1_uc001wtk.1_Silent_p.Q35Q	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	184					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATAGTGACTTGAGCTATCC	0.313000														85			12		0	0	0.001855	0	0
SYNE2	23224	broad.mit.edu	37	14	64465019	64465019	+	Missense_Mutation	SNP	G	A	A	rs150464227	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:64465019G>A	uc001xgl.3	+	25	3556	c.3326G>A	c.(3325-3327)aGt>aAt	p.S1109N	SYNE2_uc001xgm.3_Missense_Mutation_p.S1109N|SYNE2_uc021ruh.1_Missense_Mutation_p.S1109N	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1109					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGATTACAGTGCATCTATA	0.363000														57			4		0	0	0.009096	0	0
ATP2B1	490	broad.mit.edu	37	12	90013816	90013816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:90013816G>A	uc001tbh.3	-	9	1970	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	ATP2B1_uc001tbg.3_Nonsense_Mutation_p.R597*|ATP2B1_uc001tbf.3_Nonsense_Mutation_p.R267*	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	597					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.R597Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTGAATATTCGATAACTTCCA	0.348000														103			10		0	0	0.006214	0	0
PALLD	23022	broad.mit.edu	37	4	169433187	169433187	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:169433187G>A	uc011cjx.2	+	1	743	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PALLD_uc003iru.3_Missense_Mutation_p.E178K	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	178					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTTAATTGAGGAGCTAACATC	0.488000									Pancreatic Cancer, Familial Clustering of					85			6		0	0	0.004482	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038726	122038726	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:122038726G>A	uc002tmx.3	-	1	277	c.184C>T	c.(184-186)Cat>Tat	p.H62Y	TFCP2L1_uc010flr.3_Missense_Mutation_p.H62Y	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	62					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTCTCTTCATGCAGCTTCACG	0.622000														83			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	14	107062209	107062209	+	RNA	SNP	G	T	T	rs1778	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:107062209G>T	uc021ser.1	-	150		c.6777C>A								Parts of antibodies, mostly variable regions.																		ACGTGTCTACGGACATGGTGA	0.577000														142			12		1.5842e-08	1.66086e-08	0.001855	1	0
FUCA2	2519	broad.mit.edu	37	6	143816920	143816920	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:143816920A>G	uc003qjm.3	-	6	1577	c.1328T>C	c.(1327-1329)gTa>gCa	p.V443A	FUCA2_uc003qjn.3_3'UTR	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	Homo sapiens fucosidase, alpha-L- 2, plasma (FUCA2), mRNA.	443					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGGCAGTTCTACCATAATGCC	0.448000														63			5		0	0	0.001984	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600414	48600414	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:48600414C>T	uc010wmr.2	+	10	1663	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	464					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.T500A(1)|p.R501W(1)|p.R464W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGACTGGCGACGGCAGCACCA	0.507000														101			14		0	0	0.003163	0	0
TCEB1	6921	broad.mit.edu	37	8	74868197	74868197	+	Silent	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:74868197T>G	uc022avv.1	-	4	381	c.97A>C	c.(97-99)Aga>Cga	p.R33R	TCEB1_uc022avw.1_Silent_p.R33R|TCEB1_uc022avx.1_Silent_p.R33R|TCEB1_uc003xzy.2_Silent_p.R33R|TCEB1_uc003yaa.2_Silent_p.R33R|TCEB1_uc022avy.1_Silent_p.R33R|TCEB1_uc003xzx.2_Silent_p.R33R|TCEB1_uc022avz.1_Silent_p.R17R|TCEB1_uc003xzz.2_Silent_p.R17R	NM_001204861	NP_001191790	Q15369	ELOC_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) (TCEB1), transcript variant 7, mRNA.	33					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATGTTCTCTTTTTACAATA	0.378000														119			6		0	0	0.001168	0	0
LOC646214	646214	broad.mit.edu	37	15	21936464	21936464	+	RNA	SNP	C	T	T	rs8025772	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr15:21936464C>T	uc010tzj.1	-	0		c.4276G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTTATGCAGACCATTTCTTTA	0.328000														40			9		0	0	0.004482	0	0
ANKRD36	375248	broad.mit.edu	37	2	97852956	97852956	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:97852956C>T	uc010yva.2	+	30	2307	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V	ANKRD36_uc010fic.2_Missense_Mutation_p.A407V|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	688										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAACAACCAGCCTTGAAGGTA	0.279000														26			3		0	0	0.004672	0	0
NAGK	55577	broad.mit.edu	37	2	71302756	71302756	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:71302756C>T	uc002shr.3	+	5	2474	c.498C>T	c.(496-498)tgC>tgT	p.C166C	NAGK_uc002shp.4_Silent_p.C263C|NAGK_uc002shq.4_Silent_p.C68C			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	217					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTGGGTTTTGCCGGAAAATTG	0.507000														51			4		0	0	0.001168	0	0
ZNF713	349075	broad.mit.edu	37	7	56007419	56007419	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:56007419T>C	uc003tra.2	+	6	1859	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	ZNF713_uc003trc.1_Missense_Mutation_p.F338S	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTAAAGCTTTTAGCCGCATC	0.433000														162			12		0	0	0.001855	0	0
GATA2	2624	broad.mit.edu	37	3	128204752	128204752	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:128204752C>T	uc003ekm.3	-	3	1124	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GATA2_uc003ekn.3_Missense_Mutation_p.R230H|GATA2_uc003eko.2_Missense_Mutation_p.R230H	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	230					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TAGGCCTGGGCGCAGGGGACT	0.642000			Mis		AML(CML blast transformation)									24			7		0	0	0.001984	0	0
IGF2R	3482	broad.mit.edu	37	6	160448286	160448286	+	Missense_Mutation	SNP	G	A	A	rs139474833	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:160448286G>A	uc003qta.3	+	5	864	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	239					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTGGTAAGAGGACACCAGGCG	0.557000														29			3		0	0	0.004672	0	0
PDE3A	5139	broad.mit.edu	37	12	20522831	20522831	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:20522831G>C	uc001reh.2	+	0	653	c.613G>C	c.(613-615)Gtg>Ctg	p.V205L		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	205					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GACATGGCTGGTGCTGAGGCT	0.647000														36			4		0	0	0.000602	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506255	1506255	+	Missense_Mutation	SNP	C	T	T	rs144648219		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:1506255C>T	uc010xgq.1	-	12	1524	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R161H|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.R392H	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	392	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GAGCTGGATGCGCACCTCATA	0.677000														34			4		0	0	0.009096	0	0
OSCP1	127700	broad.mit.edu	37	1	36898067	36898067	+	Missense_Mutation	SNP	T	C	C	rs34409118	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:36898067T>C	uc001caq.3	-	2	507	c.391A>G	c.(391-393)Acc>Gcc	p.T131A	OSCP1_uc021olk.1_Missense_Mutation_p.T141A|OSCP1_uc001car.3_Missense_Mutation_p.T131A	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	141					transport	basal plasma membrane		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502000														99			6		0	0	0.001168	0	0
NWD1	284434	broad.mit.edu	37	19	16861070	16861070	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:16861070G>A	uc002neu.4	+	5	2039	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A	NWD1_uc002net.4_Silent_p.A404A|NWD1_uc002nev.4_Silent_p.A333A|NWD1_uc021uqg.1_Silent_p.A404A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	539	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAGGCTGGCGTTTGAGGAAG	0.657000														43			4		0	0	0.009096	0	0
FBXO43	286151	broad.mit.edu	37	8	101146038	101146038	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:101146038G>A	uc003yjd.3	-	4	2855	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	FBXO43_uc003yje.3_Missense_Mutation_p.R673C	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	707					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTCAGAGGCGTTTTAAATTC	0.378000														129			7		0	0	0.001984	0	0
CILP2	148113	broad.mit.edu	37	19	19656065	19656065	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:19656065C>T	uc002nmw.4	+	7	2814	c.2729C>T	c.(2728-2730)gCg>gTg	p.A910V	CILP2_uc002nmv.4_Missense_Mutation_p.A904V	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	904						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGGTGGAGGCGGACAAGTAC	0.692000														31			4		0	0	0.000602	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	C	C	rs75182069	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:66764392T>C	uc003tvo.2	-	1		c.64A>G			PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA.																		ATAGGTTTGATGGCCTTAGCA	0.418000														359			16		0	0	0.007413	0	0
CNR2	1269	broad.mit.edu	37	1	24201753	24201753	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:24201753C>T	uc021oij.1	-	0	355	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	CNR2_uc001bif.3_Missense_Mutation_p.A119T	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	119					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CCCACAGAGGCTGTGAAGGTC	0.537000														76			7		0	0	0.003080	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762132	62762132	+	Silent	SNP	A	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:62762132A>G	uc009yon.3	-	7	1219	c.1098T>C	c.(1096-1098)gaT>gaC	p.D366D	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.D243D|SLC22A8_uc001nwo.3_Silent_p.D366D|SLC22A8_uc010rmm.2_Silent_p.D275D|SLC22A8_uc001nwp.2_Silent_p.D366D	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	366					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.D366N(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCTGGGACATCGACCCCAC	0.547000														22			23		0	0	0.014323	0	0
LRP2	4036	broad.mit.edu	37	2	170027118	170027118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:170027118G>A	uc002ues.3	-	58	11536	c.11323C>T	c.(11323-11325)Cga>Tga	p.R3775*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3775	LDL-receptor class A 32.				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)	CAGATCCATCGCGAGGGAATG	0.507000														120			7		0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:7578206T>C	uc002gim.2	-	5	837	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_uc002gig.1_Missense_Mutation_p.S215G|TP53_uc002gih.3_Missense_Mutation_p.S215G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S83G|TP53_uc010cnf.1_Missense_Mutation_p.S83G|TP53_uc002gii.1_Missense_Mutation_p.S83G|TP53_uc010cni.1_Missense_Mutation_p.S215G|TP53_uc010cnh.1_Missense_Mutation_p.S215G|TP53_uc002gij.2_Missense_Mutation_p.S215G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.S122G|TP53_uc002gio.2_Missense_Mutation_p.S83G|TP53_uc010vug.2_Missense_Mutation_p.S176G|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; 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.H214R(53)|p.S215R(19)|p.S215I(16)|p.S215G(12)|p.S215C(10)|p.0?(8)|p.S215N(7)|p.H214Y(5)|p.?(5)|p.S215fs*32(5)|p.H214D(4)|p.H214Q(4)|p.H214fs*33(4)|p.H214fs*5(4)|p.S215T(3)|p.H214fs*7(2)|p.S215fs*27(2)|p.S215del(2)|p.H214_S215insX(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*29(2)|p.T211_S215delTFRHS(2)|p.S215S(2)|p.S215fs*31(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.H214H(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.S215_V218>R(1)|p.R213fs*32(1)|p.S215_V218>M(1)|p.R209fs*6(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)		ACCACCACACTATGTCGAAAA	0.537000		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)				30			21		0	0	0.002780	0	0
PPAP2C	8612	broad.mit.edu	37	19	288107	288107	+	Silent	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:288107C>T	uc002loh.3	-	1	283	c.180G>A	c.(178-180)ggG>ggA	p.G60G	PPAP2C_uc002loi.3_Silent_p.G39G|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	39					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGGAGTCATCCCCGCAGTAAA	0.607000														89			5		0	0	0.001984	0	0
RGL2	5863	broad.mit.edu	37	6	33264226	33264226	+	Silent	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:33264226T>C	uc003odv.3	-	4	995	c.435A>G	c.(433-435)gaA>gaG	p.E145E	RGL2_uc003odu.3_5'Flank|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Silent_p.E63E|RGL2_uc011drb.2_Silent_p.E63E	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	145	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TAGGATGAGATTCAAGGGCTT	0.517000														47			8		0	0	0.006214	0	0
MAGI2	9863	broad.mit.edu	37	7	77824191	77824191	+	Splice_Site	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:77824191G>A	uc003ugx.3	-	12	2523	c.2269_splice	c.e12+1	p.Q757_splice	MAGI2_uc003ugy.3_Splice_Site_p.R757_splice|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Splice_Site_p.Q366_splice	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	757						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTCACTTACGCCTACTTTCA	0.453000														98			6		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:179579723G>A	uc021vsy.1	-	86	22683	c.22458C>T	c.(22456-22458)atC>atT	p.I7486I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I4147I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8413	Ig-like 57.						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)			CTTTGAGAGCGATGGAACCAA	0.473000														174			23		0	0	0.003954	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37186301	37186301	+	RNA	SNP	T	C	C	rs4794798	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:37186301T>C	uc002hrd.1	+	0		c.143T>C								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		CAGGAAGTGATGTAGAACCTT	0.532000														52			5		0	0	0.000602	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625340	19625340	+	RNA	SNP	G	A	A	rs9553323	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:19625340G>A	uc001umb.1	-	7		c.3183C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CCCCACAGTCGATGTGGAAGT	0.582000														27			4		0	0	0.000602	0	0
CDHR2	54825	broad.mit.edu	37	5	176008572	176008572	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:176008572A>T	uc021yie.1	+	16	2321	c.2047A>T	c.(2047-2049)Atc>Ttc	p.I683F	CDHR2_uc003mem.2_Missense_Mutation_p.I683F|CDHR2_uc003men.1_Missense_Mutation_p.I683F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	683	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAATGTCACCATCACTGTGGA	0.627000														43			6		0	0	0.001984	0	0
LILRB5	10990	broad.mit.edu	37	19	54754990	54754990	+	Missense_Mutation	SNP	C	G	G	rs686334		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:54754990C>G	uc010yer.1	-	12	1756	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	556					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.P549L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTTTCACCTCGGCATACGTC	0.582000														13			3		0	0	0.001168	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310865	143310865	+	Missense_Mutation	SNP	C	T	T	rs139787483		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:143310865C>T	uc003ywj.3	-	11	1564	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	TSNARE1_uc011lju.2_Missense_Mutation_p.A507T|TSNARE1_uc003ywk.3_Missense_Mutation_p.A508T	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	508					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGAGGTGGCGATGATGATG	0.517000														54			21		0	0	0.012319	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540757	133540757	+	Silent	SNP	G	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:133540757G>T	uc002ttp.3	-	13	4001	c.3627C>A	c.(3625-3627)acC>acA	p.T1209T	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1209							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATCCGGTAGGGTCACATTTC	0.507000														49			30		3.65163e-15	3.85944e-15	0.006320	1	0
PHC3	80012	broad.mit.edu	37	3	169820405	169820405	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:169820405C>T	uc003fgl.2	-	13	2729	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	PHC3_uc010hws.1_Missense_Mutation_p.E887K|PHC3_uc011bpq.1_3'UTR	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	887					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTTTCCCGCTCGCTCTGCCTG	0.478000														63			7		0	0	0.001984	0	0
SF3B2	10992	broad.mit.edu	37	11	65835634	65835634	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:65835634G>A	uc001ogy.1	+	20	2486	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	816					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding	p.G816S(2)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAGCCGGAAGGGCCCGGCTCC	0.572000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			9		0	0	0.006214	0	0
SNAP47	116841	broad.mit.edu	37	1	227935682	227935682	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:227935682C>T	uc001hrf.2	+	1	794	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.S127F|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	127						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTTCAGCTCCCTGCGGCCA	0.552000														84			9		0	0	0.006214	0	0
X97876	0	broad.mit.edu	37	9	66500871	66500871	+	RNA	SNP	T	C	C	rs11262348		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr9:66500871T>C	uc004aed.1	+	2		c.964T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TACACGGAACTGCTGTTGGTC	0.597000														36			6		0	0	0.004482	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	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)				20			17		0	0	0.004007	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058550	67058550	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:67058550C>T	uc003dmy.3	+	3	1600	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L	KBTBD8_uc011bfv.2_Missense_Mutation_p.P74L	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	516										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAGACTTTCCATGTGATCAG	0.373000														115			7		0	0	0.001984	0	0
ESPL1	9700	broad.mit.edu	37	12	53682342	53682342	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:53682342G>A	uc001sck.2	+	19	4658	c.4567G>A	c.(4567-4569)Ggc>Agc	p.G1523S	ESPL1_uc001scj.2_Missense_Mutation_p.G1198S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1523					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAGCTCCGGGCCCTGAGGC	0.577000											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			4		0	0	0.009096	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728700	50728700	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:50728700G>A	uc003bkv.4	-	2	407	c.314C>T	c.(313-315)cCc>cTc	p.P105L		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	105	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCTTCCTGGGAGGGTCGAG	0.637000														40			9		0	0	0.006214	0	0
C17orf47	284083	broad.mit.edu	37	17	56621138	56621138	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:56621138C>T	uc002iwq.2	-	0	596	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	137										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTGACTTGCTCTCACTGCC	0.483000														67			33		0	0	0.013726	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573655	38573655	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:38573655C>T	uc002ohk.3	+	2	1959	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	484					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAGCAGCAGCGGACGCAGAG	0.662000														43			4		0	0	0.009096	0	0
C1orf159	54991	broad.mit.edu	37	1	1019628	1019628	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:1019628G>A	uc001act.2	-	10	1201	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.R203W	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	239	Pro-rich.					integral to membrane						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;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGGGTGGCCGAGATCCAGAG	0.662000														40			6		0	0	0.001984	0	0
USP6	9098	broad.mit.edu	37	17	5076164	5076164	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:5076164T>C	uc002gau.1	+	37	6342	c.4112T>C	c.(4111-4113)aTa>aCa	p.I1371T	USP6_uc002gav.1_Missense_Mutation_p.I1371T|USP6_uc010ckz.1_Missense_Mutation_p.I1054T	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1371					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCAGGGGATAGACTACGCA	0.423000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									126			15		0	0	0.004007	0	0
TP63	8626	broad.mit.edu	37	3	189586503	189586503	+	Missense_Mutation	SNP	G	A	A	rs143591434		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:189586503G>A	uc003fry.2	+	7	1216	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TP63_uc003frx.2_Missense_Mutation_p.R376H|TP63_uc003frz.2_Missense_Mutation_p.R376H|TP63_uc010hzc.1_Missense_Mutation_p.R376H|TP63_uc003fsa.2_Missense_Mutation_p.R282H|TP63_uc003fsb.2_Missense_Mutation_p.R282H|TP63_uc003fsc.2_Missense_Mutation_p.R282H|TP63_uc003fsd.2_Missense_Mutation_p.R282H|TP63_uc021xir.1_Missense_Mutation_p.R282H|TP63_uc010hzd.1_Missense_Mutation_p.R197H|TP63_uc003fse.1_Intron	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	376	Interaction with HIPK2.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGTACGAAGCGCCGTAAGTAG	0.493000										HNSCC(45;0.13)				63			21		0	0	0.012319	0	0
LILRB5	10990	broad.mit.edu	37	19	54754989	54754989	+	Missense_Mutation	SNP	T	G	G	rs686335		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:54754989T>G	uc010yer.1	-	12	1757	c.1646A>C	c.(1645-1647)gAg>gCg	p.E549A	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	556					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.E549A(1)|p.P549L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTTTCACCTCGGCATACGT	0.582000														13			3		0	0	0.001168	0	0
APOBEC1	339	broad.mit.edu	37	12	7805277	7805277	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7805277T>G	uc001qtb.3	-	2	233	c.199A>C	c.(199-201)Ata>Cta	p.I67L	APOBEC1_uc001qtc.3_Missense_Mutation_p.I22L	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	67					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						aatttttttataaaattaaCT	0.473000														50			4		0	0	0.009096	0	0
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	-	-	rs58327065		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:154842200_154842202delGCT	uc021pah.1	-	0	553_555	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_uc001ffp.3_In_Frame_Del_p.Q80del|KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(4)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													---	11	---	---	5	---					
SMPD1	6609	broad.mit.edu	37	11	6412859	6412860	+	Frame_Shift_Ins	INS	-	A	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:6412859_6412860insA	uc001mcw.3	+	1	749_750	c.564_565insA	c.(562-567)cccaaafs	p.P188fs	SMPD1_uc021qcz.1_Frame_Shift_Ins_p.P188fs|SMPD1_uc001mcv.2_Intron|SMPD1_uc009yew.3_Frame_Shift_Ins_p.P187fs|SMPD1_uc021qda.1_Non-coding_Transcript|SMPD1_uc009yex.3_Non-coding_Transcript	NM_000543	NP_000534	P17405	ASM_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA.	186					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	AGCCGCCCCCCAAACCCCCTAG	0.624													---	4	---	---	2	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	-	-	rs74268405		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													---	47	---	---	9	---					
ITPKC	80271	broad.mit.edu	37	19	41235209	41235209	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:41235209delT	uc002oot.3	+	2	1391	c.1358delT	c.(1357-1359)gtgfs	p.V453fs		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	453						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGACCTTTCGTGCCTGCCTAC	0.562													---	24	---	---	9	---					
ATRX	546	broad.mit.edu	37	X	76854995	76854995	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:76854995delG	uc004ecp.4	-	24	6073	c.5841delC	c.(5839-5841)ggcfs	p.G1947fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.G1909fs|ATRX_uc004eco.4_Frame_Shift_Del_p.G1732fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1947	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATTGTCACTGCCACTTCCAC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	77	---	---	127	---					
