Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRDM14	63978	broad.mit.edu	37	8	70978498	70978498	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:70978498C>T	ENST00000276594.2	-	5	1356	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGCTTCCCCGGCTCTGTGA	0.537000													8	76					0	0	0.047766	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517991	113517991	+	Silent	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:113517991A>G	ENST00000284601.3	-	4	3224	c.3156T>C	c.(3154-3156)acT>acC	p.T1052T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1052					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGAAGACTAGTAGAAGCAG	0.368000													99	124					0	0	0.048971	0	0
CLRN3	119467	broad.mit.edu	37	10	129690850	129690850	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:129690850C>T	ENST00000368671.3	-	1	361	c.199G>A	c.(199-201)Gga>Aga	p.G67R		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCTGCAAGTCCGTGACTCAAT	0.368000													4	78					0	0	0.009096	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962181	1962181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr16:1962181C>T	ENST00000454677.2	-	2	555	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	HS3ST6_ENST00000443547.1_Missense_Mutation_p.G116R|HS3ST6_ENST00000293937.3_Missense_Mutation_p.G147R			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	116										endometrium(2)|lung(2)	4						GTGATCTGCCCATCCAGGGTT	0.687000													6	12					0	0	0.021553	0	0
KRT71	112802	broad.mit.edu	37	12	52946764	52946764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:52946764C>T	ENST00000267119.5	-	1	167	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	33	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCCTGCCCGGAAGGAGGA	0.652000													19	150					0	0	0.043863	0	0
RNF130	55819	broad.mit.edu	37	5	179393937	179393937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:179393937C>A	ENST00000522208.2	-	7	1037	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	RNF130_ENST00000261947.4_Missense_Mutation_p.R340I|RNF130_ENST00000521389.1_Missense_Mutation_p.R340I			Q86XS8	GOLI_HUMAN	ring finger protein 130	340					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCTGATCTTCGGTTAAC	0.517000													5	91					3.59834e-05	3.76969e-05	0.021553	1	0
SOAT1	6646	broad.mit.edu	37	1	179320474	179320474	+	Silent	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:179320474T>C	ENST00000367619.3	+	15	1616	c.1473T>C	c.(1471-1473)aaT>aaC	p.N491N	SOAT1_ENST00000540564.1_Silent_p.N433N|SOAT1_ENST00000535686.1_Silent_p.N227N|SOAT1_ENST00000539888.1_Silent_p.N426N	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	491					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGTCAATGATAGTCGGA	0.408000													19	183					0	0	0.062417	0	0
PSMC3	5702	broad.mit.edu	37	11	47444498	47444498	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:47444498C>T	ENST00000298852.3	-	7	775	c.618G>A	c.(616-618)atG>atA	p.M206I	PSMC3_ENST00000602866.1_Missense_Mutation_p.M190I|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164I	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTGTGGTTCATTGGCAAGA	0.592000													18	214					0	0	0.049695	0	0
AZGP1P1	0	broad.mit.edu	37	7	99578411	99578411	+	RNA	SNP	T	T	C	rs62484970	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:99578411T>C	ENST00000425474.1	+	0	27					NR_036679.1																						AAGAATGGTGTCTGTCCTGCT	0.582000													5	135					0	0	0.029380	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144121	11144121	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:11144121C>G	ENST00000358026.2	+	26	3986	c.3702C>G	c.(3700-3702)ttC>ttG	p.F1234L	SMARCA4_ENST00000541122.2_Missense_Mutation_p.F1234L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.F1234L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.F1234L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1234	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.F1234L(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCATGTTCGACCAGAAGT	0.637000			"""F, N, Mis"""		NSCLC								24	69					0	0	0.099896	0	0
PDE8A	5151	broad.mit.edu	37	15	85681058	85681058	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:85681058A>G	ENST00000310298.4	+	23	2666	c.2414A>G	c.(2413-2415)cAt>cGt	p.H805R	PDE8A_ENST00000339708.5_Missense_Mutation_p.H759R|PDE8A_ENST00000557957.1_Missense_Mutation_p.H733R|PDE8A_ENST00000394553.1_Missense_Mutation_p.H805R			O60658	PDE8A_HUMAN	phosphodiesterase 8A	805	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTAATGCAGCATCTTGACAAC	0.463000													10	37					0	0	0.058154	0	0
NKAPL	222698	broad.mit.edu	37	6	28228259	28228259	+	Silent	SNP	A	A	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr6:28228259A>G	ENST00000343684.3	+	1	1162	c.1110A>G	c.(1108-1110)gcA>gcG	p.A370A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	370										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGCTCTTGCATCCTTTAACC	0.443000													45	53					0	0	0.045515	0	0
MYOM2	9172	broad.mit.edu	37	8	2021511	2021511	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:2021511G>T	ENST00000262113.4	+	10	1192	c.1051G>T	c.(1051-1053)Ggc>Tgc	p.G351C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	351	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACGACGAGGGCCTGTACAC	0.602000													12	44					4.3838e-07	4.74313e-07	0.105934	1	0
PCNXL3	399909	broad.mit.edu	37	11	65393163	65393163	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:65393163T>G	ENST00000355703.3	+	19	3715	c.3176T>G	c.(3175-3177)aTc>aGc	p.I1059S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1059						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGTGGTGATCGCCGTGCTC	0.627000											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	0.093190	0	0
POTEG	404785	broad.mit.edu	37	14	19553818	19553818	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr14:19553818C>T	ENST00000409832.3	+	1	454	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587000													30	348					0	0	0.045515	0	0
DAB2	1601	broad.mit.edu	37	5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:39381673C>T	ENST00000545653.1	-	10	1854	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000320816.6_Missense_Mutation_p.V463I	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542000													21	98					0	0	0.069288	0	0
EDEM2	55741	broad.mit.edu	37	20	33722668	33722668	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr20:33722668G>A	ENST00000540582.1	-	10	1173	c.452C>T	c.(451-453)aCg>aTg	p.T151M	EDEM2_ENST00000374491.2_Missense_Mutation_p.T155M|EDEM2_ENST00000374492.3_Missense_Mutation_p.T192M|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_De_novo_Start_InFrame			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	192					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCCCTGCCGTACAGGTGAC	0.542000													8	58					0	0	0.058154	0	0
SMYD1	150572	broad.mit.edu	37	2	88393054	88393054	+	Silent	SNP	C	C	G			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:88393054C>G	ENST00000419482.2	+	5	763	c.678C>G	c.(676-678)tcC>tcG	p.S226S	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493000													14	69					0	0	0.033300	0	0
OTUD5	55593	broad.mit.edu	37	X	48791845	48791845	+	Silent	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:48791845G>A	ENST00000156084.4	-	5	1026	c.966C>T	c.(964-966)gaC>gaT	p.D322D	OTUD5_ENST00000396743.3_Silent_p.D317D|OTUD5_ENST00000428668.2_Silent_p.D100D|OTUD5_ENST00000376488.3_Silent_p.D317D|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	322	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GAATGGGTTCGTCCTCGTTTT	0.507000													13	120					0	0	0.105934	0	0
KRTCAP3	200634	broad.mit.edu	37	2	27666916	27666916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:27666916G>A	ENST00000543753.1	+	6	763	c.716G>A	c.(715-717)tGg>tAg	p.W239*	KRTCAP3_ENST00000288873.3_Nonsense_Mutation_p.W239*|KRTCAP3_ENST00000407293.1_Nonsense_Mutation_p.W221*	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	239						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGAGAAGTTGGGTTTAGGAC	0.483000													4	21					0	0	0.009096	0	0
GPR83	10888	broad.mit.edu	37	11	94113592	94113592	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:94113592C>A	ENST00000243673.2	-	4	1166	c.995G>T	c.(994-996)tGg>tTg	p.W332L	GPR83_ENST00000539203.2_Missense_Mutation_p.W290L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	332						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATGGCAAACCAGTGGAAGGC	0.517000													68	150					5.26073e-25	6.09137e-25	0.048971	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786734	121786734	+	Missense_Mutation	SNP	G	G	A	rs146515227	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:121786734G>A	ENST00000261367.7	+	12	3761	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	SNCAIP_ENST00000379538.3_Missense_Mutation_p.R365H|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R671H|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R778H|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R289H|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R731H|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R333H			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	731					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCAGGGGGACGCAGGTTTCCT	0.542000													5	62					0	0	0.014758	0	0
SASH3	54440	broad.mit.edu	37	X	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	rs140091268		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:128914084G>A	ENST00000356892.3	+	1	125	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	4										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577000													10	24					0	0	0.080935	0	0
ZNF91	7644	broad.mit.edu	37	19	23543197	23543197	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:23543197C>T	ENST00000300619.7	-	4	2789	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A830T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	862						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGATTAAAAGCTTTGCCACAT	0.358000													5	38					0	0	0.021553	0	0
CPEB4	80315	broad.mit.edu	37	5	173317440	173317440	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:173317440A>T	ENST00000265085.5	+	1	2158	c.704A>T	c.(703-705)cAt>cTt	p.H235L	CPEB4_ENST00000520867.1_Missense_Mutation_p.H235L|CPEB4_ENST00000519835.1_Missense_Mutation_p.H235L|CPEB4_ENST00000334035.5_Missense_Mutation_p.H235L	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	235	His-rich.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCACCCACATCACCCTCAT	0.537000													18	104					0	0	0.033300	0	0
PCDHGA11	0	broad.mit.edu	37	5	140801469	140801469	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:140801469C>T	ENST00000398587.2	+	1	708	c.675C>T	c.(673-675)ggC>ggT	p.G225G	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Silent_p.G225G|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G225G(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527000													5	66					0	0	0.014758	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								41	44					0	0	0.045515	0	0
AC093838.4	0	broad.mit.edu	37	2	132256505	132256505	+	RNA	SNP	A	A	C	rs3817572	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:132256505A>C	ENST00000438378.2	+	0	478					NR_026922.1																						TGATTAAAGTAATTGAGGATT	0.388000													4	87					0	0	0.021553	0	0
ESX1	80712	broad.mit.edu	37	X	103499230	103499230	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:103499230C>A	ENST00000372588.4	-	2	194	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	37					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTCCCCTTGCCATCAGCGAGG	0.602000													25	198					1.1804e-14	1.32044e-14	0.091800	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:142713407C>T	ENST00000369381.2	-	0	1198																											CAGTAAGAAACTCATTCTTAT	0.318000													4	11					0	0	0.014758	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387537	39387537	+	Silent	SNP	C	C	T	rs144471703		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr22:39387537C>T	ENST00000402182.3	+	6	979	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B_ENST00000407298.3_Silent_p.F283F|APOBEC3B_ENST00000333467.3_Silent_p.F308F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	308					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572000													35	194					0	0	0.059317	0	0
RBM22	55696	broad.mit.edu	37	5	150073655	150073655	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:150073655C>T	ENST00000199814.4	-	8	1015	c.894G>A	c.(892-894)ctG>ctA	p.L298L	RBM22_ENST00000447771.2_Silent_p.L249L|RBM22_ENST00000540000.1_Silent_p.L249L	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	298	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCACATTCAGTCTGCGGC	0.398000													5	129					0	0	0.014758	0	0
VPS13B	157680	broad.mit.edu	37	8	100589785	100589785	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:100589785T>C	ENST00000358544.2	+	33	5330	c.5219T>C	c.(5218-5220)gTg>gCg	p.V1740A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V1715A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1740			Missing (in COH1).		protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTAAGTGTGGCTCAAGTT	0.388000													10	87					0	0	0.069234	0	0
OR1A1	8383	broad.mit.edu	37	17	3119139	3119139	+	Silent	SNP	G	G	A	rs113780617		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:3119139G>A	ENST00000304094.1	+	1	225	c.225G>A	c.(223-225)tcG>tcA	p.S75S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTCTCATCGGTAACCATCC	0.483000													20	179					0	0	0.049695	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993753	96993753	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:96993753C>T	ENST00000361124.4	+	1	1819	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.L454F|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.L462F|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.L454F	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	462						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGGCTGCCCCTCACGGACTG	0.567000													17	83					0	0	0.028581	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	39					0	0	0.029380	0	0
RP11-699L21.1	0	broad.mit.edu	37	3	193711891	193711891	+	RNA	SNP	T	T	C	rs111993093	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:193711891T>C	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						CTTGGTTCCATTTGTTCCATA	0.388000													3	44					0	0	0.014758	0	0
FGD6	55785	broad.mit.edu	37	12	95604123	95604123	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:95604123G>A	ENST00000343958.4	-	2	1160	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_ENST00000549499.1_Missense_Mutation_p.P313S|FGD6_ENST00000546711.1_Missense_Mutation_p.P313S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413000													12	143					0	0	0.080935	0	0
NOTCH1	4851	broad.mit.edu	37	9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0.009096	0	0
MIR509-1	0	broad.mit.edu	37	X	146342130	146342130	+	RNA	SNP	C	C	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:146342130C>A	ENST00000385265.1	-	0	13					NR_030236.1|NR_030586.1																						CAGTAGGGTACCACACACAGC	0.438000													27	165					4.4194e-11	4.86134e-11	0.054565	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46120875	46120875	+	Silent	SNP	T	T	C			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:46120875T>C	ENST00000355105.3	-	5	1537	c.177A>G	c.(175-177)ctA>ctG	p.L59L	GPBP1L1_ENST00000290795.3_Silent_p.L59L	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTTCGTAGGGGACCAT	0.453000													13	57					0	0	0.020292	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279430	217279430	+	Translation_Start_Site	SNP	G	G	A			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:217279430G>A	ENST00000357276.4	+	3	333	c.3G>A	c.(1-3)atG>atA	p.M1I	SMARCAL1_ENST00000358207.5_Start_Codon_SNP_p.M1I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	1					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGTGAAAATGTCCTTGCCTC	0.413000									Schimke Immuno-Osseous Dysplasia				10	55					0	0	0.058154	0	0
PLCD3	113026	broad.mit.edu	37	17	43194022	43194022	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:43194022G>T	ENST00000322765.5	-	8	1503	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCTCCTCGGGATTTGGGGAG	0.692000													29	34					1.61788e-16	1.84103e-16	0.050027	1	0
IL9	3578	broad.mit.edu	37	5	135231431	135231431	+	Silent	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:135231431C>T	ENST00000274520.1	-	1	85	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	25					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGATCCCCGCCAAGGTTG	0.567000													6	80					0	0	0.021553	0	0
LINC00969	0	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													4	73					0	0	0.029380	0	0
TACR2	6865	broad.mit.edu	37	10	71164757	71164757	+	Missense_Mutation	SNP	G	G	A	rs149794645		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:71164757G>A	ENST00000373306.4	-	5	1565	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	TACR2_ENST00000373307.1_Missense_Mutation_p.T129M	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	341					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGGGAGGTCGTGGGAGTCAG	0.627000													4	84					0	0	0.009096	0	0
RUFY4	285180	broad.mit.edu	37	2	218954072	218954072	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:218954072C>T	ENST00000374155.3	+	11	2070	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	RUFY4_ENST00000344321.7_Missense_Mutation_p.R534W|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	534							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTTCTCGGCGGTATCCATG	0.602000													6	28					0	0	0.021553	0	0
OR4D2	124538	broad.mit.edu	37	17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	rs149114670		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527000													17	72					0	0	0.033300	0	0
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													3	4	---	---	---	---					
IQCJ-SCHIP1	0	broad.mit.edu	37	3	159482272	159482274	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:159482272_159482274delGCA	ENST00000337808.6	+	2	681_683	c.104_106delGCA	c.(103-108)ggc>g	p.GS35del	IQCJ-SCHIP1_ENST00000412423.2_In_Frame_Del_p.GS35del|IQCJ-SCHIP1_ENST00000460298.1_In_Frame_Del_p.GS8del|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000527095.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_In_Frame_Del_p.GS111del|IQCJ-SCHIP1_ENST00000476809.1_In_Frame_Del_p.GS84del	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		35	Ser-rich.					cytoplasm	identical protein binding|protein binding	p.S41delS(1)|p.S117delS(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTGACGCCGgcagcagcagcag	0.635													3	5	---	---	---	---					
RNF180	285671	broad.mit.edu	37	5	63509839	63509840	+	Frame_Shift_Del	DEL	AT	AT	-	rs146938584	byFrequency	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:63509839_63509840delAT	ENST00000389100.4	+	4	758_759	c.686_687delAT	c.(685-687)cfs	p.H229fs	RNF180_ENST00000296615.6_Frame_Shift_Del_p.H229fs|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	229						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGAAAATCACATAGTTTGGATC	0.386													19	115	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													6	7	---	---	---	---					
MRPL15	29088	broad.mit.edu	37	8	55049886	55049889	+	Frame_Shift_Del	DEL	GGTC	GGTC	-	rs144260791		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:55049886_55049889delGGTC	ENST00000260102.4	+	3	396_399	c.322_325delGGTC	c.(322-327)gtfs	p.GR108fs		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	108					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TATTGATTTGGGTCGTGTTGATCC	0.426													28	60	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aafs	p.KE523fs	TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								22	28	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													8	250	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													3	6	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42791372	42791373	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:42791372_42791373delAG	ENST00000572681.2	+	4	3227_3228	c.3159_3160delAG	c.(3157-3162)acagfs	p.TE1053fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.TE144fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.TE144fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	144	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGTGAGACAGAGAGTGACCA	0.663			"""Mis, F, S"""		oligodendroglioma								19	8	---	---	---	---