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
DNAH8	1769	broad.mit.edu	37	6	38690922	38690922	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	ENST00000449981.2	+	2	446	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8									p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488000													25	26					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237501	56237501	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	ENST00000312240.2	-	1	513	c.473C>A	c.(472-474)aCa>aAa	p.T158K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428000													28	91					4.87955e-14	5.55396e-14	1	1	0
POLR3GL	84265	broad.mit.edu	37	1	145457015	145457015	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	ENST00000369314.1	-	7	652	c.546G>C	c.(544-546)gaG>gaC	p.E182D	POLR3GL_ENST00000369313.3_Missense_Mutation_p.E159D	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	182	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478000													7	25					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41066266	41066266	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	ENST00000352632.3	+	27	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.M634V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.M701V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1958V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1958					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667000													13	76					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627466	21627466	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	ENST00000425654.2	+	19	2813	c.2333C>A	c.(2332-2334)tCt>tAt	p.S778Y	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S808Y|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S759Y|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S808Y	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	808					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547000													27	66					4.59853e-10	5.10948e-10	1	1	0
GAK	2580	broad.mit.edu	37	4	861174	861174	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	ENST00000314167.4	-	21	2552	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E735D	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	814					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587000													18	90					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33257583	33257583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	ENST00000269195.5	+	3	446	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_ENST00000537549.1_Missense_Mutation_p.L55F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	115	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388000													15	110					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179247941	179247941	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	ENST00000389805.4	+	1	183	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_ENST00000510187.1_Missense_Mutation_p.A2V|SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000376929.3_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	2	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716000													3	6					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43411516	43411516	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:43411516G>A	ENST00000310826.5	-	3	2872	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P897S|ZBTB21_ENST00000398511.3_Missense_Mutation_p.P897S|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P696S	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		GCTTCTTTGGGGGCTGTGCTG	0.562000													5	68					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13138080	13138080	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	ENST00000319217.7	-	29	4323	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_ENST00000381015.4_Missense_Mutation_p.G1359A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1373A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1359A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1359A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G218A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1359	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438000													9	68					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934577	186934577	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	ENST00000367466.3	+	15	1768	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D479G	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	539	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGCCTCTGGATGTCAAAAGT	0.353000													14	72					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034402	82034402	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	ENST00000328945.5	-	2	189	c.62G>C	c.(61-63)gGt>gCt	p.G21A	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	21					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383000													13	56					0	0	1	0	0
PRPF31	26121	broad.mit.edu	37	19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	ENST00000321030.4	+	9	1214	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	289	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617000													5	20					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676272	123676272	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	ENST00000309154.2	-	1	823	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498000													11	34					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730892	127730892	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	ENST00000508053.1	-	15	2128	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_ENST00000262464.4_Missense_Mutation_p.K385T|FBN2_ENST00000508989.1_Missense_Mutation_p.K352T			P35556	FBN2_HUMAN	fibrillin 2	385	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547000													5	24					0	0	1	0	0
NKX2-8	26257	broad.mit.edu	37	14	37051529	37051529	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	ENST00000258829.5	-	1	283	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	22					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701000													3	17					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935721	151935721	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	ENST00000393902.3	-	3	1013	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517000													83	107					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138863316	138863316	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	ENST00000464848.1	+	14	1294	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_ENST00000343187.4_Missense_Mutation_p.A374G|TTC26_ENST00000430935.1_Missense_Mutation_p.A405G|TTC26_ENST00000478836.2_Missense_Mutation_p.A298G|TTC26_ENST00000495038.1_Missense_Mutation_p.A274G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	405							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368000													8	57					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45744968	45744968	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	ENST00000389061.5	+	2	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_ENST00000541314.1_Missense_Mutation_p.M6V|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	24						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358000													18	52					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37696974	37696974	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	ENST00000248901.6	+	7	648	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	154	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667000													3	18					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408008	105408008	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	ENST00000333244.5	-	7	13899	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4594						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642000													33	86					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								22	43					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30058630	30058630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	ENST00000346128.6	-	5	902	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_ENST00000400011.2_Missense_Mutation_p.R147Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R143Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R143Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R143Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	143					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468000													21	65					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430980	135430980	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	ENST00000394143.1	+	6	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_ENST00000287534.4_Missense_Mutation_p.Q1642H|GPR112_ENST00000370652.1_Missense_Mutation_p.Q1705H|GPR112_ENST00000412101.1_Missense_Mutation_p.Q1500H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q1500H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1705					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458000													26	164					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789861	6789861	+	Missense_Mutation	SNP	C	C	T	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	ENST00000338569.2	-	1	425	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522000													16	27					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748299	111748299	+	Silent	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	ENST00000261726.6	+	15	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677000													27	58					1.68575e-08	1.8295e-08	1	1	0
CYTH3	9265	broad.mit.edu	37	7	6217518	6217518	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	ENST00000350796.3	-	5	440	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463000													16	74					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003589	74003589	+	Silent	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	ENST00000301607.3	-	22	5950	c.5697C>A	c.(5695-5697)gcC>gcA	p.A1899A	EVPL_ENST00000586740.1_Silent_p.A1921A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1899	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652000													15	108					2.32078e-09	2.55835e-09	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612000													5	31					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967769	106967769	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	ENST00000273980.4	-	27	3087	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_ENST00000432496.2_Missense_Mutation_p.I880M|TBCK_ENST00000394706.3_Missense_Mutation_p.I841M|TBCK_ENST00000361687.4_Missense_Mutation_p.I817M|TBCK_ENST00000394708.2_Missense_Mutation_p.I880M			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	880	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408000													12	23					0	0	1	0	0
IKBKE	0	broad.mit.edu	37	1	206649566	206649566	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	ENST00000367120.3	+	6	774	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.R49H	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622000													5	68					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710148	55710148	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	ENST00000376350.3	-	8	1575	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.T340I	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	518	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592000													10	30					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13138059	13138059	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	ENST00000319217.7	-	29	4344	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_ENST00000381015.4_Missense_Mutation_p.G1366E|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1380E|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1366E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1366E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G225E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1366	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448000													12	65					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9995006	9995006	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	ENST00000279544.3	+	5	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Silent_p.V138V|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	188	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358000													11	66					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958081	49958081	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	ENST00000376056.2	-	5	1406	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	AKAP4_ENST00000376064.3_Missense_Mutation_p.K419R|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K428R|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	428					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478000													36	101					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112321472	112321472	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	ENST00000550735.2	+	9	1504	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.I250V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	250	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468000													26	128					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159201746	159201746	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	ENST00000283233.5	-	3	545	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_ENST00000409889.1_Missense_Mutation_p.Q78E|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q87E|CCDC148_ENST00000536771.1_Intron	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383000													24	125					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474867	149474867	+	RNA	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	ENST00000378016.2	+	0	666							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682000													5	12					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36126576	36126576	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	ENST00000303965.4	-	22	4143	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1218	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368000													11	64					1.58986e-06	1.69909e-06	1	1	0
RIOK3	8780	broad.mit.edu	37	18	21047458	21047458	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	ENST00000339486.3	+	7	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_ENST00000577501.1_Missense_Mutation_p.K261N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K245N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	261	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368000													9	77					4.68919e-08	5.0499e-08	1	1	0
MED12	9968	broad.mit.edu	37	X	70345937	70345937	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	ENST00000333646.6	+	18	2673	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_ENST00000374102.1_Missense_Mutation_p.T825N|MED12_ENST00000374080.3_Missense_Mutation_p.T825N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	825					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						19	94					9.7654e-05	0.000101271	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9237223	9237223	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	ENST00000305444.2	-	1	403	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488000													18	79					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924470	24924470	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:24924470T>A	ENST00000329468.2	+	1	3930	c.3456T>A	c.(3454-3456)tgT>tgA	p.C1152*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GACATGTCTGTTTCCAACTTC	0.428000													16	77					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56540259	56540259	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	ENST00000323777.3	-	4	1535	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468000													85	75					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113919721	113919721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	ENST00000348367.4	-	17	2047	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_ENST00000369425.1_Missense_Mutation_p.R617Q|GPAM_ENST00000423155.1_Missense_Mutation_p.R617Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	617					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547000													8	37					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667000													4	34					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													5	71					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144641509	144641509	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:144641509G>T	ENST00000526406.1	+	5	887	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	GSDMD_ENST00000533063.1_Missense_Mutation_p.G50W|GSDMD_ENST00000262580.4_Missense_Mutation_p.G2W	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	2										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGAGCATGGGGTCGGCCTT	0.627000													10	26					0.0692343	0.0697324	1	1	0
ACOT11	26027	broad.mit.edu	37	1	55072901	55072901	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	ENST00000371316.3	+	14	1547	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_ENST00000343744.2_Missense_Mutation_p.V489M|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	489	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627000													10	64					0	0	1	0	0
C19orf48	84798	broad.mit.edu	37	19	51301536	51301536	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	ENST00000598463.1	-	5	1268	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C19orf48_ENST00000391812.1_Missense_Mutation_p.P57L|C19orf48_ENST00000596655.1_Missense_Mutation_p.P57L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P57L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647000													25	140					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745580	131745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	ENST00000372577.2	+	18	1826	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	602					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448000													19	136					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21817163	21817163	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	ENST00000382254.1	-	9	1979	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_ENST00000522262.1_Missense_Mutation_p.F258C|CDH12_ENST00000504376.2_Missense_Mutation_p.F298C|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388000										HNSCC(59;0.17)			23	88					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309136	248309136	+	Silent	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	ENST00000366476.1	+	1	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443000													55	317					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62400106	62400106	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	ENST00000346178.4	-	10	1008	c.993C>T	c.(991-993)cgC>cgT	p.R331R	GANAB_ENST00000356638.3_Silent_p.R309R|GANAB_ENST00000534779.1_Silent_p.R217R|GANAB_ENST00000540933.1_Silent_p.R212R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	309					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCCCAAGTCGCGATGAGGGT	0.532000													47	132					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134709030	134709030	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	ENST00000370752.4	+	13	1986	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413000													24	103					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185020	18185020	+	Silent	SNP	T	T	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	ENST00000317582.5	+	6	815	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Silent_p.P156P|BCL2L13_ENST00000538149.1_Silent_p.P32P|BCL2L13_ENST00000493680.1_Silent_p.P156P|BCL2L13_ENST00000355028.3_Intron	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	156					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363000													11	90					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586329	50586329	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	ENST00000378182.3	+	2	991	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.I85V|TRIM13_ENST00000356017.4_Missense_Mutation_p.I88V|TRIM13_ENST00000420995.2_Missense_Mutation_p.I85V|TRIM13_ENST00000298772.5_Missense_Mutation_p.I88V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	85					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438000													53	28					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109546658	109546658	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	ENST00000409271.1	-	4	535	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_ENST00000376651.1_Missense_Mutation_p.C31Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C31Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	31					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602000													5	34					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044199	133044199	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	ENST00000262283.5	-	16	1695	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	OC90_ENST00000254627.3_Silent_p.P320P|OC90_ENST00000443356.2_Silent_p.P336P|OC90_ENST00000603859.1_Silent_p.P320P			Q02509	OC90_HUMAN	otoconin 90	336					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547000													13	45					0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75675025	75675025	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	ENST00000446342.1	+	9	1418	c.936G>A	c.(934-936)ccG>ccA	p.P312P	C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Silent_p.P329P|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.P293P	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	329	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ATCTCTATCCGGAGCAGCTGA	0.512000													21	87					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525025	248525025	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	ENST00000366475.1	+	1	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458000													26	159					1.1804e-14	1.35455e-14	1	1	0
CRLF2	64109	broad.mit.edu	37	X	1321390	1321390	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	ENST00000381567.3	-	4	364	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.P122L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACGTGCTTCGGGGAACTGGG	0.542000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								24	120					0	0	1	0	0
G6PD	2539	broad.mit.edu	37	X	153760890	153760890	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	ENST00000393562.2	-	10	1652	c.1269C>T	c.(1267-1269)cgC>cgT	p.R423R	G6PD_ENST00000369620.2_Silent_p.R439R|G6PD_ENST00000393564.2_Silent_p.R393R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	393					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612000													24	66					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50156700	50156700	+	Silent	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	ENST00000360565.3	+	7	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1018	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657000													182	6					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284454	152284454	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	ENST00000368799.1	-	3	2943	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582000									Ichthyosis				63	450					1.41401e-22	1.67764e-22	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478000													9	66					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39815264	39815264	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	ENST00000564288.1	+	42	11707	c.10930C>T	c.(10930-10932)Ctc>Ttc	p.L3644F	MACF1_ENST00000545844.1_Missense_Mutation_p.L1582F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1582F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1582F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.L1582F|MACF1_ENST00000372915.3_Missense_Mutation_p.L3649F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3681F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2084F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3649					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGGATCTCTCTGCTTT	0.498000													15	108					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416330	153416330	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	ENST00000369951.4	+	2	375	c.315C>T	c.(313-315)atC>atT	p.I105I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	105					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597000													25	98					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961870	34961870	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	ENST00000329357.5	+	1	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	308	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCCATCTCCGCCCAGAGCC	0.632000													29	72					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622000													10	77					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776590	38776590	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	ENST00000308973.4	-	4	1227	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_ENST00000508334.1_Missense_Mutation_p.R208C|TLR10_ENST00000506111.1_Missense_Mutation_p.R208C|TLR10_ENST00000361424.2_Missense_Mutation_p.R208C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	208					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338000													8	80					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40656103	40656103	+	Missense_Mutation	SNP	C	C	A	rs150939222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:40656103C>A	ENST00000267889.3	+	2	484	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	133					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCCTCACAGCGCGATGGGAC	0.657000													6	45					0.0215528	0.0218651	1	1	0
ZNF30	90075	broad.mit.edu	37	19	35434793	35434793	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	ENST00000439785.1	+	5	1370	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF30_ENST00000601142.1_Missense_Mutation_p.R308I|ZNF30_ENST00000426813.2_Missense_Mutation_p.R227I|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309I	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448000													33	64					1.36161e-19	1.6019e-19	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917362	48917362	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	ENST00000311378.4	+	2	1241	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622000													7	41					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181684510	181684510	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	ENST00000526775.1	+	9	1373	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G10E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G403E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G403E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G403E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	403					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373000													4	12					0	0	1	0	0
PARL	55486	broad.mit.edu	37	3	183580581	183580581	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	ENST00000317096.4	-	4	531	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_ENST00000311101.5_Silent_p.K157K|PARL_ENST00000435888.1_Silent_p.K157K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	157					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393000													4	46					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37553613	37553613	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	ENST00000378616.3	+	2	523	c.320G>A	c.(319-321)aGg>aAg	p.R107K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	107					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468000													7	23					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126381	19126381	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	ENST00000381440.3	+	1	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	28					7.03913e-09	7.69904e-09	1	1	0
IFNA5	3442	broad.mit.edu	37	9	21304957	21304957	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	ENST00000259555.4	-	1	355	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483000													39	225					8.73648e-17	1.01083e-16	1	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12918902	12918902	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	ENST00000240189.2	+	2	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567000													27	160					1.75199e-13	1.96222e-13	1	1	0
FAM208A	23272	broad.mit.edu	37	3	56667651	56667651	+	Silent	SNP	C	C	T	rs61758809	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:56667651C>T	ENST00000431842.2	-	11	2781	c.1857G>A	c.(1855-1857)gaG>gaA	p.E619E	FAM208A_ENST00000355628.5_Silent_p.E995E|FAM208A_ENST00000493960.2_Silent_p.E1056E	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1056										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTTCATCTTCTCTTGTGTTG	0.358000													5	67					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	ENST00000413692.2	+	3	1193	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287H|NFATC4_ENST00000440487.2_3'UTR	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706000													18	19					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	rs139446025	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	ENST00000316193.8	-	5	751	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CSH1_ENST00000453363.3_Missense_Mutation_p.R109C|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582000									Russell-Silver syndrome				18	112					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056724	22056724	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	ENST00000256906.4	+	3	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	124						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCTTATAGAACTCAACATACT	0.378000													12	95					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23523984	23523984	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	ENST00000397359.3	-	4	847	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_ENST00000267383.5_Silent_p.L196L|CDH24_ENST00000487137.2_Silent_p.L196L|CDH24_ENST00000554034.1_Silent_p.L196L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	196	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	24					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123525989	123525989	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:123525989A>G	ENST00000422452.2	-	28	5664	c.5601T>C	c.(5599-5601)aaT>aaC	p.N1867N	TENM1_ENST00000371130.3_Silent_p.N1860N|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.N1862K(1)									CCATTTTTTCATTCCACGTTC	0.393000													20	53					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	8					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132631651	132631651	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	ENST00000315480.4	+	13	1497	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_ENST00000372429.3_Missense_Mutation_p.D447Y|USP20_ENST00000358355.1_Missense_Mutation_p.D447Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	447					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652000													45	134					3.05275e-18	3.56154e-18	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33236713	33236713	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	ENST00000401073.2	+	6	2003	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	KIAA1522_ENST00000373481.3_Missense_Mutation_p.R597C|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R586C|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617000													18	146					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781283	9781283	+	Silent	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	ENST00000383829.2	+	3	1604	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_ENST00000433861.2_Silent_p.C400C|BRPF1_ENST00000457855.1_Silent_p.C400C|BRPF1_ENST00000424362.1_Silent_p.C400C|BRPF1_ENST00000302054.3_Silent_p.C400C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	400					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572000													20	59					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73466844	73466844	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	ENST00000258091.5	+	2	221	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000473786.1_Intron|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000538797.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	27					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488000													7	23					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169347582	169347582	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	ENST00000367808.3	+	4	906	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_ENST00000329281.2_Silent_p.L161L			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	161					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343000													59	119					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124357525	124357525	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	ENST00000368909.3	+	25	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_ENST00000338354.3_Missense_Mutation_p.V985I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V975I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V486I|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.V975I|DMBT1_ENST00000330163.4_Missense_Mutation_p.V486I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	985					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463000													19	63					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043382	180043382	+	Silent	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	ENST00000261937.6	-	23	3282	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_ENST00000502649.1_Silent_p.Y1068Y|FLT4_ENST00000393347.3_Silent_p.Y1068Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1068	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597000													12	46					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325273	6325273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	ENST00000335585.5	-	9	1123	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_ENST00000382599.4_Missense_Mutation_p.R367Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R350Q|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R360Q	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	367					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642000													6	42					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701438	8701438	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:8701438G>T	ENST00000329805.4	-	1	1229	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	334						integral to membrane		p.A334V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CACCAGTAAGGCCAGGGTGCT	0.597000													5	35					0.014758	0.0150812	1	1	0
LPA	4018	broad.mit.edu	37	6	161027642	161027642	+	Silent	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	ENST00000447678.1	-	18	2772	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	LPA_ENST00000316300.5_Silent_p.P884P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522000													83	127					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634394	32634394	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	ENST00000242310.4	-	1	1273	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	395					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458000													42	223					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218649	17218649	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	ENST00000180173.5	-	4	479	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	MTMR7_ENST00000521857.1_Missense_Mutation_p.S149C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	149	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473000													30	50					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1042063	1042063	+	Splice_Site	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	ENST00000263094.6	+	5	534	c.302_splice	c.e5-1	p.L101_splice	ABCA7_ENST00000433129.1_Splice_Site_p.L101_splice	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCCCAGGGTCTCCCGGC	0.711000													3	11					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119070601	119070601	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	ENST00000371410.3	-	3	678	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	171					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294000													15	48					3.52763e-06	3.74143e-06	1	1	0
CPT1B	1375	broad.mit.edu	37	22	51011381	51011381	+	Silent	SNP	G	G	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	ENST00000360719.2	-	11	1412	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_ENST00000434492.2_Silent_p.S222S|CPT1B_ENST00000312108.7_Silent_p.S425S|CPT1B_ENST00000405237.3_Silent_p.S425S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S425S|CPT1B_ENST00000457250.1_Silent_p.S391S|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602000													5	66					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176714	112176714	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	ENST00000457016.1	+	16	5803	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.N1808T|APC_ENST00000257430.4_Missense_Mutation_p.N1808T			P25054	APC_HUMAN	adenomatous polyposis coli	1808	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	36					0	0	1	0	0
C19orf48	84798	broad.mit.edu	37	19	51301602	51301602	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	ENST00000598463.1	-	5	1202	c.104C>T	c.(103-105)cCa>cTa	p.P35L	C19orf48_ENST00000391812.1_Missense_Mutation_p.P35L|C19orf48_ENST00000596655.1_Missense_Mutation_p.P35L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P35L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642000													25	134					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24545692	24545692	+	Splice_Site	SNP	A	A	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	ENST00000441463.2	+	8	752	c.750_splice	c.e8-1	p.N251_splice	PDK3_ENST00000379162.4_Splice_Site_p.N251_splice	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	251	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363000													4	19					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290652	141290652	+	Nonstop_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	ENST00000247452.3	-	3	1469	c.1122A>T	c.(1120-1122)tgA>tgT	p.*374C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502000										HNSCC(46;0.14)			20	73					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49094920	49094920	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	ENST00000323090.4	+	3	808	c.433T>A	c.(433-435)Tcc>Acc	p.S145T	SULT2B1_ENST00000201586.2_Missense_Mutation_p.S160T|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612000													3	23					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74716489	74716489	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	ENST00000445478.2	-	5	1236	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_ENST00000397625.4_Missense_Mutation_p.D345N|JMJD6_ENST00000585429.1_Intron	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	345	Ser-rich.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582000													10	75					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74060453	74060453	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	ENST00000326303.4	+	2	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	169					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428000													21	59					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060485	152060485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	ENST00000368806.1	-	2	199	c.135delT	c.(133-135)ttfs	p.F45fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	45							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453													97	246	---	---	---	---					
RP11-262H14.3	0	broad.mit.edu	37	9	66545695	66545695	+	RNA	DEL	A	A	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373													3	4	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27322258	27322258	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	ENST00000376087.4	-	25	3868	c.3703delC	c.(3703-3705)aafs	p.Q1235fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.Q1251fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.Q792fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318													12	75	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													3	3	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4162-4167)ataaaafs	p.IK1388fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													7	151	---	---	---	---					
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gag>g	p.EK233del	UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	233	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453													7	314	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24581321	24581321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	ENST00000319715.4	+	17	3742	c.3310delC	c.(3310-3312)cafs	p.P1104fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.P1070fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1104	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368													20	30	---	---	---	---					
KLF1	10661	broad.mit.edu	37	19	12996674	12996674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	ENST00000264834.4	-	2	410	c.370delG	c.(370-372)ctfs	p.A124fs		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	124	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746													2	4	---	---	---	---					
NKPD1	284353	broad.mit.edu	37	19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)del	p.Q642del	NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													7	328	---	---	---	---					
LONRF3	79836	broad.mit.edu	37	X	118148199	118148199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	ENST00000365713.2	+	9	2044	c.1881delG	c.(1879-1881)atfs	p.M627fs	LONRF3_ENST00000422289.2_Frame_Shift_Del_p.M412fs|LONRF3_ENST00000304778.7_Frame_Shift_Del_p.M627fs|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.M668fs|LONRF3_ENST00000472173.1_3'UTR			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	668	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAGCTCATGGGATTACATA	0.438													59	245	---	---	---	---