Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CROCC	9696	broad.mit.edu	37	1	17250936	17250936	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:17250936G>A	uc001azt.2	+	3	382	c.313G>A	c.(313-315)GAT>AAT	p.D105N	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	105	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGAGCGCGATGAGCTCGC	0.652													9	23					0	0	0.006214	0	0
TMCO4	255104	broad.mit.edu	37	1	20073705	20073705	+	Silent	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:20073705C>T	uc001bcn.2	-	8	806	c.564G>A	c.(562-564)AAG>AAA	p.K188K	TMCO4_uc001bcm.2_Silent_p.K188K|TMCO4_uc001bco.1_Silent_p.K188K|TMCO4_uc001bcp.1_Silent_p.K188K|TMCO4_uc009vpn.1_Silent_p.K188K|TMCO4_uc001bcq.1_Silent_p.K188K	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	188	Potential.					integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAGATAACGCTTCCATTTCC	0.547													11	305					0	0	0.008291	0	0
AIM1L	55057	broad.mit.edu	37	1	26650673	26650673	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:26650673C>T	uc001bmd.3	-	17	2002	c.1572G>A	c.(1570-1572)TGG>TGA	p.W524*		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	524	Ricin B-type lectin.						sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGTAGTACCAGATGCAGC	0.622													18	45					0	0	0.002780	0	0
SLC5A9	200010	broad.mit.edu	37	1	48703490	48703490	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:48703490G>C	uc001cro.2	+	11	1484	c.1432G>C	c.(1432-1434)GCC>CCC	p.A478P	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.A503P|SLC5A9_uc010omt.1_Missense_Mutation_p.A492P|SLC5A9_uc001crp.2_Missense_Mutation_p.A145P|SLC5A9_uc010omu.1_Missense_Mutation_p.A145P|SLC5A9_uc009vyt.1_5'Flank	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	478	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CTTCCTGCTGGCCATCTTCTG	0.473													6	37					0	0	0.001168	0	0
TYW3	127253	broad.mit.edu	37	1	75204387	75204387	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:75204387A>G	uc001dgn.2	+	3	358	c.269A>G	c.(268-270)AAG>AGG	p.K90R	TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog isoform	90					tRNA processing		methyltransferase activity			ovary(2)	2						GTAGCTCTGAAGAAAGCAAAT	0.383													15	18					0	0	0.004990	0	0
USH2A	7399	broad.mit.edu	37	1	216496989	216496989	+	Silent	SNP	A	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:216496989A>C	uc001hku.1	-	8	1764	c.1377T>G	c.(1375-1377)CCT>CCG	p.P459P	USH2A_uc001hkv.2_Silent_p.P459P	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	459	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTTGGTCCAGGTGTCAGGA	0.373										HNSCC(13;0.011)			35	93					0	0	0.002852	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739296	30739296	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr10:30739296T>C	uc001ivi.1	+	5	1310	c.614T>C	c.(613-615)CTC>CCC	p.L205P	MAP3K8_uc009xlf.1_Missense_Mutation_p.L205P|MAP3K8_uc001ivj.1_Missense_Mutation_p.L205P	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	205	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				ACTGTCCATCTCTTTATGGAA	0.488													4	78					0	0	0.000248	0	0
DCDC1	341019	broad.mit.edu	37	11	31312399	31312399	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:31312399T>C	uc001msv.2	-	7	957	c.755A>G	c.(754-756)GAC>GGC	p.D252G	DCDC1_uc001msu.1_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	252	Doublecortin.				intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					CAACAGATGGTCTAGAAGATA	0.338													14	20					0	0	0.002450	0	0
EIF4B	1975	broad.mit.edu	37	12	53431273	53431273	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:53431273A>G	uc001sbh.3	+	11	1593	c.1387A>G	c.(1387-1389)AAA>GAA	p.K463E	EIF4B_uc010snu.1_Missense_Mutation_p.K468E|EIF4B_uc010snv.1_Missense_Mutation_p.K424E|EIF4B_uc001sbi.2_Missense_Mutation_p.K215E	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	463					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						TCCAACTTCTAAACCTCCCAA	0.478													14	19					0	0	0.008871	0	0
SELPLG	6404	broad.mit.edu	37	12	109017462	109017462	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:109017462C>T	uc001tni.2	-	2	782	c.622G>A	c.(622-624)GCC>ACC	p.A208T	SELPLG_uc001tnh.2_Missense_Mutation_p.A198T|SELPLG_uc010sxe.1_Missense_Mutation_p.A224T	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	208	7.|Extracellular (Potential).|12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						GCTTCCATGGCTGCTGGTGCA	0.622													10	34					0	0	0.008291	0	0
ACIN1	22985	broad.mit.edu	37	14	23564434	23564434	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:23564434C>G	uc001wit.3	-	1	390	c.62G>C	c.(61-63)CGA>CCA	p.R21P	ACIN1_uc010akg.2_Missense_Mutation_p.R21P|ACIN1_uc010tnj.1_Missense_Mutation_p.R21P|C14orf119_uc001wiu.2_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	21					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTACCCCTCGATTACCACT	0.592													8	98					0	0	0.004482	0	0
JPH4	84502	broad.mit.edu	37	14	24040638	24040638	+	Silent	SNP	G	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:24040638G>A	uc001wkq.2	-	6	2220	c.1302C>T	c.(1300-1302)TCC>TCT	p.S434S	JPH4_uc010tnr.1_Silent_p.S99S|JPH4_uc001wkr.2_Silent_p.S434S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	434	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCCGTGTCGGAACCTTCTG	0.617													6	43					0	0	0.001168	0	0
Unknown	0	broad.mit.edu	37	15	28929443	28929443	+	RNA	SNP	C	T	T	rs692165	by1000genomes	TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr15:28929443C>T	uc010azc.2	+	14		c.2148C>T								Homo sapiens I.M.A.G.E. clone 321824, mRNA sequence.																		TTTTGGGCTCCCTGGGTGGTC	0.532													3	9					0	0	0.004672	0	0
GLOD4	51031	broad.mit.edu	37	17	685481	685481	+	Silent	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:685481T>C	uc002frv.2	-	1	91	c.15A>G	c.(13-15)AGA>AGG	p.R5R	GLOD4_uc002fru.2_Silent_p.R5R|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	5						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGTGCAGAGCTCTGCGAGCAG	0.662													4	17					0	0	0.000602	0	0
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Silent	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578177C>T	uc002gim.2	-	6	866	c.672G>A	c.(670-672)GAG>GAA	p.E224E	TP53_uc002gig.1_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	224	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		CAAACCAGACCTCAGGCGGCT	0.522		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			11	11					0	0	0.001368	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578271T>G	uc002gim.2	-	6	772	c.578A>C	c.(577-579)CAT>CCT	p.H193P	TP53_uc002gig.1_Missense_Mutation_p.H193P|TP53_uc002gih.2_Missense_Mutation_p.H193P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61P|TP53_uc010cng.1_Missense_Mutation_p.H61P|TP53_uc002gii.1_Missense_Mutation_p.H61P|TP53_uc010cnh.1_Missense_Mutation_p.H193P|TP53_uc010cni.1_Missense_Mutation_p.H193P|TP53_uc002gij.2_Missense_Mutation_p.H193P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100P|TP53_uc002gio.2_Missense_Mutation_p.H61P|TP53_uc010vug.1_Missense_Mutation_p.H154P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TCGGATAAGATGCTGAGGAGG	0.562		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			6	17					0	0	0.001984	0	0
TRIM16	10626	broad.mit.edu	37	17	15510998	15510998	+	Splice_Site	SNP	C	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:15510998C>A	uc002gor.1	-	12	2390	c.2053_splice	c.e12-1	p.N685_splice	CDRT1_uc002gov.3_Splice_Site_p.N375_splice|CDRT1_uc002gou.2_Splice_Site			O95361	TRI16_HUMAN	SubName: Full=Putative uncharacterized protein; Flags: Fragment;						histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGTACTCATTCTAACAAGGGA	0.488													16	16					1.99824e-07	8.10396e-07	0.004990	1	0
FLJ36000	284124	broad.mit.edu	37	17	21904197	21904197	+	RNA	SNP	C	T	T	rs9904223	by1000genomes	TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:21904197C>T	uc002gza.2	+	1		c.136C>T				NR_027084				Homo sapiens cDNA FLJ36000 fis, clone TESTI2015180.												0						ctcaggcctgccaggacggtg	0													7	34					0	0	0.003080	0	0
FBXO47	494188	broad.mit.edu	37	17	37107930	37107930	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:37107930C>T	uc002hrc.2	-	6	720	c.520G>A	c.(520-522)GGT>AGT	p.G174S		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	174											0						TCATCCCAACCTGCTGTTAAG	0.343													14	42					0	0	0.002450	0	0
NEDD4L	23327	broad.mit.edu	37	18	55912729	55912729	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr18:55912729A>G	uc002lgy.2	+	3	467	c.193A>G	c.(193-195)ACA>GCA	p.T65A	NEDD4L_uc002lgz.2_Missense_Mutation_p.T65A|NEDD4L_uc002lgx.2_Missense_Mutation_p.T65A|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Missense_Mutation_p.T57A|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Missense_Mutation_p.T57A|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	65	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						CCAGACAAAAACAATTAAAAA	0.264													2	6					0	0	0.004672	0	0
CAD	790	broad.mit.edu	37	2	27456961	27456961	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:27456961C>T	uc002rji.2	+	22	3647	c.3485C>T	c.(3484-3486)TCA>TTA	p.S1162L	CAD_uc010eyw.2_Missense_Mutation_p.S1099L	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1162	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGTGCATTCAGGTGATGCG	0.587													25	27					0	0	0.003330	0	0
XDH	7498	broad.mit.edu	37	2	31588394	31588394	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:31588394G>A	uc002rnv.1	-	23	2552	c.2473C>T	c.(2473-2475)CGA>TGA	p.R825*		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCATGCATCGCACAGGGCGG	0.572													39	98					0	0	0.002222	0	0
C2orf3	6936	broad.mit.edu	37	2	75929421	75929421	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:75929421C>T	uc002sno.2	-	3	653	c.523G>A	c.(523-525)GAA>AAA	p.E175K	C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_Missense_Mutation_p.E6K|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.E175K	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	175					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						GGGTCATCTTCGCTCTCTCTC	0.453													13	119					0	0	0.001368	0	0
POTEE	445582	broad.mit.edu	37	2	132021756	132021756	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:132021756C>T	uc002tsn.2	+	15	2780	c.2728C>T	c.(2728-2730)CGT>TGT	p.R910C	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R510C|POTEE_uc002tsl.2_Missense_Mutation_p.R492C|POTEE_uc010fmy.1_Missense_Mutation_p.R374C	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	910	Actin-like.						ATP binding				0						GGAAATCGTGCGTGACATCAA	0.602													14	161					0	0	0.002780	0	0
ZEB2	9839	broad.mit.edu	37	2	145157730	145157730	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:145157730C>G	uc002tvu.2	-	8	1504	c.1024G>C	c.(1024-1026)GGC>CGC	p.G342R	ZEB2_uc002tvv.2_Missense_Mutation_p.G336R|ZEB2_uc010zbm.1_Missense_Mutation_p.G313R|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G371R	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	342						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTCGGCCATTTACAGAG	0.413													7	35					0	0	0.001984	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								18	48					0	0	0.001882	0	0
NFATC2	4773	broad.mit.edu	37	20	50049078	50049078	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:50049078C>T	uc002xwd.2	-	9	2468	c.2248G>A	c.(2248-2250)GTA>ATA	p.V750I	NFATC2_uc002xwc.2_Missense_Mutation_p.V750I|NFATC2_uc010zyv.1_Missense_Mutation_p.V531I|NFATC2_uc010zyw.1_Missense_Mutation_p.V531I|NFATC2_uc010zyx.1_Missense_Mutation_p.V730I|NFATC2_uc010zyy.1_Missense_Mutation_p.V531I|NFATC2_uc010zyz.1_Missense_Mutation_p.V531I|NFATC2_uc002xwe.2_Missense_Mutation_p.V730I	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	750					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TGGTAGAGTACGGCCGCTGGG	0.697													7	11					0	0	0.001984	0	0
SMTN	6525	broad.mit.edu	37	22	31484563	31484563	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:31484563A>G	uc003ajl.1	+	4	483	c.265A>G	c.(265-267)ATG>GTG	p.M89V	SMTN_uc003ajk.1_Missense_Mutation_p.M89V|SMTN_uc003ajm.1_Missense_Mutation_p.M89V|SMTN_uc011ale.1_Missense_Mutation_p.M143V|SMTN_uc011alf.1_Missense_Mutation_p.M145V|SMTN_uc003ajn.1_Missense_Mutation_p.M81V|SMTN_uc011alg.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	89	Potential.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						GCTGGAGTCCATGAACGATGT	0.637													7	46					0	0	0.003080	0	0
CNOT10	25904	broad.mit.edu	37	3	32754815	32754815	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:32754815A>G	uc003cfc.1	+	5	782	c.527A>G	c.(526-528)GAA>GGA	p.E176G	CNOT10_uc011axi.1_Intron|CNOT10_uc003cfd.1_Missense_Mutation_p.E175G|CNOT10_uc003cfe.1_Missense_Mutation_p.E176G|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.E236G|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	176					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						GCTGTCCTAGAAAAAATGATT	0.348													23	51					0	0	0.005443	0	0
OR5K2	402135	broad.mit.edu	37	3	98217294	98217294	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:98217294T>C	uc011bgx.1	+	1	770	c.770T>C	c.(769-771)TTC>TCC	p.F257S		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TCTATTTTTTTCCTATACATT	0.333													14	40					0	0	0.002450	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572700	101572700	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:101572700G>T	uc003dvp.2	+	5	1445	c.1330G>T	c.(1330-1332)GGT>TGT	p.G444C	NFKBIZ_uc003dvo.2_Missense_Mutation_p.G344C|NFKBIZ_uc010hpo.2_Missense_Mutation_p.G344C|NFKBIZ_uc003dvq.2_Missense_Mutation_p.G322C	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	444	Interaction with NFKB1/p50 (By similarity).|ANK 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2						GGATGCAGATGGTGACACGTG	0.388													15	61					7.93312e-07	3.15882e-06	0.002450	1	0
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:66361196T>C	uc003hcy.2	-	4	1169	c.976A>G	c.(976-978)AGT>GGT	p.S326G	EPHA5_uc003hcx.2_Missense_Mutation_p.S257G|EPHA5_uc003hcz.2_Missense_Mutation_p.S326G|EPHA5_uc011cah.1_Missense_Mutation_p.S326G|EPHA5_uc011cai.1_Missense_Mutation_p.S326G|EPHA5_uc003hda.2_Missense_Mutation_p.S326G	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	326	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			11	113					0	0	0.000978	0	0
ADH1C	126	broad.mit.edu	37	4	100260814	100260814	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:100260814A>T	uc003huu.2	-	10	1108	c.1023T>A	c.(1021-1023)TTT>TTA	p.F341L		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	341					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATCCAGTGAAAACTTCTTAG	0.328									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				7	106					0	0	0.001984	0	0
PRDM5	11107	broad.mit.edu	37	4	121631494	121631494	+	Silent	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:121631494C>T	uc003idn.2	-	15	1948	c.1698G>A	c.(1696-1698)ACG>ACA	p.T566T	PRDM5_uc003ido.2_Silent_p.T535T|PRDM5_uc010ine.2_3'UTR	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	566	C2H2-type 14.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTCCAGTGTGCGTCCTCTTGT	0.448													8	28					0	0	0.006214	0	0
PDZD2	23037	broad.mit.edu	37	5	32089975	32089975	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:32089975A>G	uc003jhl.2	+	20	6809	c.6421A>G	c.(6421-6423)ACA>GCA	p.T2141A	PDZD2_uc003jhm.2_Missense_Mutation_p.T2141A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2141	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGAATCATCCACAAGTCATCC	0.562													5	62					0	0	0.000602	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129039955	129039955	+	Silent	SNP	C	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:129039955C>A	uc003kvb.1	+	21	3165	c.3165C>A	c.(3163-3165)GGC>GGA	p.G1055G	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAAAGGCATACGTCATC	0.428													59	100					3.28615e-30	1.35786e-29	0.003610	1	0
RAD50	10111	broad.mit.edu	37	5	131930714	131930714	+	Silent	SNP	T	A	A			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:131930714T>A	uc003kxi.2	+	12	2334	c.1947T>A	c.(1945-1947)ATT>ATA	p.I649I	RAD50_uc003kxh.2_Silent_p.I510I	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	649	Zinc-hook.|Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGGAAATTGAAAAATCAT	0.368								Homologous_recombination					10	62					0	0	0.000978	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482407	156482407	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:156482407C>G	uc010jij.1	-	3	369	c.184G>C	c.(184-186)GTC>CTC	p.V62L	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.V62L|HAVCR1_uc011ddm.1_Missense_Mutation_p.V62L	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	62	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTCCAGACAATGCCATTT	0.478													10	26					0	0	0.008291	0	0
KIF13A	63971	broad.mit.edu	37	6	17764345	17764345	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:17764345T>C	uc003ncg.3	-	39	5519	c.5414A>G	c.(5413-5415)CAA>CGA	p.Q1805R	KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Missense_Mutation_p.Q1770R|KIF13A_uc003nci.3_Missense_Mutation_p.Q1757R|KIF13A_uc003nce.1_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1805					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACATACTCATTGACAGCACAG	0.493													8	22					0	0	0.004482	0	0
SCIN	85477	broad.mit.edu	37	7	12668832	12668832	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:12668832A>T	uc003ssn.3	+	9	1514	c.1304A>T	c.(1303-1305)CAG>CTG	p.Q435L	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q188L	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	435	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCAGAGGACAGATTATCTAC	0.413													22	66					0	0	0.003330	0	0
CPVL	54504	broad.mit.edu	37	7	29134736	29134736	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:29134736C>T	uc003szv.2	-	5	545	c.426G>A	c.(424-426)TGG>TGA	p.W142*	CPVL_uc003szw.2_Nonsense_Mutation_p.W142*|CPVL_uc003szx.2_Nonsense_Mutation_p.W142*	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	142					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						GCGTTGTGGTCCAGGGGAAGT	0.507													11	42					0	0	0.001368	0	0
PTTG3P	26255	broad.mit.edu	37	8	67680123	67680123	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr8:67680123G>C	uc011leu.1	-	1	118	c.118C>G	c.(118-120)CAA>GAA	p.Q40E	SGK3_uc003xwp.2_Intron|SGK3_uc003xwr.2_Intron	NR_002734				RecName: Full=Securin-3; AltName: Full=Pituitary tumor transforming gene 3 protein;          Short=hPTTG3; AltName: Full=rcPTTG1;												0						ATTGAAACTTGAGATCTCCCA	0.443													15	38					0	0	0.002450	0	0
FAM123B	139285	broad.mit.edu	37	X	63410720	63410720	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:63410720C>T	uc004dvo.2	-	2	2720	c.2447G>A	c.(2446-2448)CGG>CAG	p.R816Q		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	816					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						TTCCCCATCCCGTTCCACATC	0.498													11	27					0	0	0.000978	0	0
NRK	203447	broad.mit.edu	37	X	105167163	105167163	+	Silent	SNP	C	T	T			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:105167163C>T	uc004emd.2	+	18	2967	c.2664C>T	c.(2662-2664)AAC>AAT	p.N888N	NRK_uc010npc.1_Silent_p.N556N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	888							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						ACTTGACAAACGAATGGGTAG	0.418										HNSCC(51;0.14)			51	88					0	0	0.003610	0	0
CNGA2	1260	broad.mit.edu	37	X	150909279	150909279	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:150909279C>G	uc004fey.1	+	5	612	c.388C>G	c.(388-390)CTA>GTA	p.L130V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	130	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527													40	124					0	0	0.003610	0	0
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:85375242_85375244delCTT	uc001pas.2	-	1	939_941	c.676_678delAAG	c.(676-678)AAGdel	p.K226del	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	HCF-binding transcription factor Zhangfei	226	Basic motif.				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.384											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	106	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57429499	57429500	+	In_Frame_Ins	INS	-	GCAGCCCCT	GCAGCCCCT			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:57429499_57429500insGCAGCCCCT	uc002xzw.2	+	1	1464_1465	c.1179_1180insGCAGCCCCT	c.(1177-1182)insGCAGCCCCT	p.399_400insAAP	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGCCAGGGCAGCCCCTGC	0.688			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			3	5	---	---	---	---					
PIM3	415116	broad.mit.edu	37	22	50354613	50354613	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:50354613delC	uc003bjb.2	+	1	471	c.18delC	c.(16-18)TTCfs	p.F6fs	PIM3_uc011arj.1_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	serine/threonine protein kinase pim-3	6					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCAAGTTCGGCTCCCTGG	0.652													2	4	---	---	---	---					
RIPK1	8737	broad.mit.edu	37	6	3105782	3105782	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:3105782delG	uc010jni.2	+	9	1305	c.1073delG	c.(1072-1074)TGGfs	p.W358fs	RIPK1_uc003muv.3_Frame_Shift_Del_p.W195fs|RIPK1_uc003muw.3_Frame_Shift_Del_p.W293fs|RIPK1_uc011dhs.1_Frame_Shift_Del_p.W312fs|RIPK1_uc003mux.2_Frame_Shift_Del_p.W358fs	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	358	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGGAGTCCTGGTTTGCTCCT	0.527													47	111	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:74300557_74300564delAGAGCTCC	uc003ubj.3	-	5	625_632	c.243_250delGGAGCTCT	c.(241-252)CTGGAGCTCTTCfs	p.L81fs	STAG3L2_uc011kfj.1_RNA	NM_001025202	NP_001020373	P0CL84	ST3L2_HUMAN	STAG3-like	81_84	SCD.					nucleus	binding				0						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:76937745delT	uc004ecp.3	-	9	3235	c.3003delA	c.(3001-3003)AAAfs	p.K1001fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K963fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K786fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K933fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K972fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K946fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TTTTAATTACTTTTTTCTTAA	0.338			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						63	109	---	---	---	---					
