Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:145302714A>G	uc001end.3	+	8	1187	c.1152A>G	c.(1150-1152)TTA>TTG	p.L384L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	47					0	0	0.009096	0	0
DMBT1	1755	broad.mit.edu	37	10	124390734	124390734	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	uc001lgk.1	+	46	6002	c.5896C>T	c.(5896-5898)CGG>TGG	p.R1966W	DMBT1_uc001lgl.1_Missense_Mutation_p.R1956W|DMBT1_uc001lgm.1_Missense_Mutation_p.R1338W|DMBT1_uc009xzz.1_Missense_Mutation_p.R1966W|DMBT1_uc010qtx.1_Missense_Mutation_p.R686W|DMBT1_uc009yab.1_Missense_Mutation_p.R669W|DMBT1_uc009yac.1_Missense_Mutation_p.R260W	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1966	SRCR 14.				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			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542000													29	31					0	0	0.009535	0	0
NLRP6	171389	broad.mit.edu	37	11	281637	281637	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	uc010qvs.1	+	4	1903	c.1903C>T	c.(1903-1905)CGC>TGC	p.R635C	NLRP6_uc010qvt.1_Missense_Mutation_p.R635C	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635						cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647000													31	81					0	0	0.013726	0	0
EXPH5	23086	broad.mit.edu	37	11	108381471	108381471	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	uc001pkk.2	-	6	4874	c.4763G>T	c.(4762-4764)AGA>ATA	p.R1588I	EXPH5_uc010rvy.1_Missense_Mutation_p.R1400I|EXPH5_uc010rvz.1_Missense_Mutation_p.R1432I|EXPH5_uc010rwa.1_Missense_Mutation_p.R1512I	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	1588					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423000													40	96					1.15505e-17	1.41173e-17	0.009718	1	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:31237922G>C	uc001rjt.1	+	5	751	c.500G>C	c.(499-501)AGA>ACA	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)			3	25					0	0	0.000602	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:57485446T>C	uc001smz.2	+	2	1000	c.622T>C	c.(622-624)TTC>CTC	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTCGCCCCCCTTCTCCCCCCC	0.716000													5	10					0	0	0.006214	0	0
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	A	A	rs141179774	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	uc001tda.2	+	3	613	c.509G>A	c.(508-510)CGC>CAC	p.R170H	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			ovary(1)	1						TGGCGGCAGCGCTTCGGGAAG	0.637000													22	27					0	0	0.014323	0	0
LRRC43	254050	broad.mit.edu	37	12	122685392	122685392	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	uc009zxm.2	+	10	1745	c.1720C>A	c.(1720-1722)CCC>ACC	p.P574T	LRRC43_uc001ubw.3_Missense_Mutation_p.P389T|LRRC43_uc009zxn.2_Missense_Mutation_p.P335T|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	574											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667000													26	36					4.72057e-08	5.61365e-08	0.003954	1	0
LOC284232	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	C	C			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr13:19415742T>C	uc010tcj.1	-	1		c.30368A>G				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						GCTGTTTTCCTAATCTTTCTT	0.313000													3	49					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	5					0	0	0.004007	0	0
KLHL14	57565	broad.mit.edu	37	18	30349853	30349853	+	Silent	SNP	C	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	uc002kxm.1	-	2	1090	c.702G>A	c.(700-702)TCG>TCA	p.S234S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	234	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCGCCAGCTCCGACTCCACGG	0.652000													15	22					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9071596	9071596	+	Missense_Mutation	SNP	G	T	T	rs146343030	by1000genomes	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:9071596G>T	uc002mkp.2	-	3	16054	c.15850C>A	c.(15850-15852)CTT>ATT	p.L5284I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5286	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCCAAGGGAAGGGTACTGTGC	0.517000													3	53					0.004672	0.00540968	0.004672	1	0
C19orf53	28974	broad.mit.edu	37	19	13888924	13888925	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924_13888925GC>AA	uc002mxg.2	+	3	247_248	c.212_213GC>AA	c.(211-213)AGC>AAA	p.S71K		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Leydig cell tumor 10 kDa protein	71										ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCCA	0.599000													4	72					0	0	0.004672	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	T	T	rs138587161		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	uc002nbj.2	+	2	219	c.169C>T	c.(169-171)CGG>TGG	p.R57W	CYP4F3_uc010xok.1_Missense_Mutation_p.R57W|CYP4F3_uc010xol.1_Missense_Mutation_p.R57W|CYP4F3_uc010xom.1_Translation_Start_Site|CYP4F3_uc002nbk.2_Missense_Mutation_p.R57W	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	57					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						ACCCCCGAAACGGAATTGGTT	0.622000													6	59					0	0	0.001984	0	0
SSB	6741	broad.mit.edu	37	2	170665016	170665016	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	uc002ufk.2	+	7	686	c.579T>A	c.(577-579)AAT>AAA	p.N193K	SSB_uc002ufl.2_Missense_Mutation_p.N193K|SSB_uc002ufm.2_Missense_Mutation_p.N193K	NM_003142	NP_003133	P05455	LA_HUMAN	autoantigen La	193					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			skin(3)|pancreas(1)	4						CCAAAAAAAATGAAGAAAGAA	0.318000													8	41					0	0	0.006214	0	0
NBEAL1	65065	broad.mit.edu	37	2	204037533	204037533	+	Missense_Mutation	SNP	A	G	G	rs140473940	by1000genomes	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:204037533A>G	uc002uzt.3	+	40	6526	c.6193A>G	c.(6193-6195)ATT>GTT	p.I2065V	NBEAL1_uc002uzs.3_Missense_Mutation_p.I775V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2065	BEACH.						binding			ovary(1)|skin(1)	2						TTCCAAACCAATTGGGGTAGT	0.328000													4	104					0	0	0.009096	0	0
INO80D	54891	broad.mit.edu	37	2	206921218	206921218	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	uc002vaz.3	-	4	1073	c.668C>T	c.(667-669)GCG>GTG	p.A223V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CTGCGGTGGCGCTGGAGGTTT	0.562000													7	16					0	0	0.003080	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								26	37					0	0	0.006320	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	G	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:29625891C>G	uc010ztl.1	+	2	77	c.45C>G	c.(43-45)GGC>GGG	p.G15G	FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						TGAAATCTGGCTATGGAAAAT	0.343000													4	83					0	0	0.003080	0	0
PMEPA1	56937	broad.mit.edu	37	20	56284580	56284580	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	uc002xyq.2	-	1	452	c.59T>C	c.(58-60)GTC>GCC	p.V20A	PMEPA1_uc002xyr.2_Intron|PMEPA1_uc002xys.2_Intron|PMEPA1_uc002xyt.2_Intron|uc002xyu.1_5'Flank	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	20	Extracellular (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1						CGTGCAGGAGACATTGGGCTg	0.428000													2	4					0	0	0.004672	0	0
DGCR14	8220	broad.mit.edu	37	22	19130247	19130247	+	Missense_Mutation	SNP	G	A	A	rs111488352	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr22:19130247G>A	uc002zou.2	-	2	333	c.296C>T	c.(295-297)CCG>CTG	p.P99L	DGCR14_uc002zot.2_Missense_Mutation_p.P20L|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	99					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582000													4	88					0	0	0.009096	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870621	69870621	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr4:69870621A>T	uc011cao.1	-	9	1565	c.1429T>A	c.(1429-1431)TGT>AGT	p.C477S	UGT2B10_uc011can.1_Missense_Mutation_p.C393S			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	514					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TTCCAGAAACAAAACAGACAA	0.418000													35	43					0	0	0.012213	0	0
TBX18	9096	broad.mit.edu	37	6	85448225	85448225	+	Silent	SNP	A	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	uc003pkl.1	-	7	1089	c.1089T>A	c.(1087-1089)ATT>ATA	p.I363I	TBX18_uc010kbq.1_Silent_p.I205I	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	363					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438000													66	122					0	0	0.014410	0	0
TTYH3	80727	broad.mit.edu	37	7	2696109	2696109	+	Silent	SNP	C	G	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	uc003smp.2	+	11	1378	c.1191C>G	c.(1189-1191)GTC>GTG	p.V397V	TTYH3_uc010ksn.2_Silent_p.V117V|TTYH3_uc003smq.2_Silent_p.V226V	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	397	Helical; Name=5; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642000													11	91					0	0	0.008291	0	0
CALCR	799	broad.mit.edu	37	7	93072938	93072938	+	Silent	SNP	C	G	G	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	uc003umv.1	-	10	1143	c.882G>C	c.(880-882)CGG>CGC	p.R294R	CALCR_uc011kia.1_Silent_p.R74R|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.R260R|CALCR_uc003umw.2_Silent_p.R260R	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	276	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443000													24	58					0	0	0.003330	0	0
FLJ46321	389763	broad.mit.edu	37	9	84608693	84608693	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr9:84608693A>G	uc004amn.2	+	4	3355	c.3308A>G	c.(3307-3309)AAA>AGA	p.K1103R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1103						integral to membrane					0						GTCAGTCAGAAACAGACTGTA	0.493000													15	39					0	0	0.002450	0	0
AGFG2	3268	broad.mit.edu	37	7	100137017	100137018	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	uc003uvf.2	+	1	184_185	c.48_49insG	c.(46-51)AGCGGGfs	p.S16fs	AGFG2_uc003uvg.1_Frame_Shift_Ins_p.S16fs	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	16_17					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1						gcggggtcagcgggggcaaggc	0.233													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938452	76938453	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	uc004ecp.3	-	9	2527_2528	c.2295_2296insA	c.(2293-2298)TATGATfs	p.Y765fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.Y727fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.Y550fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.Y697fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.Y736fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.Y710fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	765_766					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GTCTTTAAATCATACAAAGTCT	0.356			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						83	38	---	---	---	---					
