Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATRX	546	broad.mit.edu	37	X	76813082	76813082	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	uc004ecp.4	-	29	6771	c.6539T>C	c.(6538-6540)gTa>gCa	p.V2180A	ATRX_uc004ecq.4_Missense_Mutation_p.V2142A|ATRX_uc004eco.4_Missense_Mutation_p.V1965A	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2180	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTTAGTTACTTGCCGATC	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							23			37		0	0	0.004878	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:21829555T>G	uc002zuv.4	-	13	3847	c.1588A>C	c.(1588-1590)Atc>Ctc	p.I530L	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.									p.I530L(8)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000														6			2		0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101447686	101447686	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	uc003dvk.1	+	3	379	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Missense_Mutation_p.E118Q|CEP97_uc003dvl.1_Intron	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	118						centrosome|nucleus	protein binding	p.E118K(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATAGGCCATGGAACAGATCAA	0.353000														59			34		0	0	0.013726	0	0
TUBB4B	10383	broad.mit.edu	37	9	140136262	140136262	+	Silent	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr9:140136262G>A	uc004cmh.1	+	1	249	c.147G>A	c.(145-147)gtG>gtA	p.V49V	TUBB4B_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	49					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GCATCAACGTGTACTACAATG	0.687000														39			5		0	0	0.001168	0	0
RAB15	376267	broad.mit.edu	37	14	65417123	65417123	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	uc021rut.1	-	4	415	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Missense_Mutation_p.Q155H|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567000														141			19		0	0	0.006122	0	0
FSHR	2492	broad.mit.edu	37	2	49190307	49190307	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	uc002rww.3	-	9	1763	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	FSHR_uc010fbn.3_Missense_Mutation_p.H525Q|FSHR_uc002rwx.3_Missense_Mutation_p.H489Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	551					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.H551Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAGGTAGATGTGGATATAGC	0.527000									Gonadal Dysgenesis, 46 XX					29			9		0.000442599	0.000477313	0.006214	1	0
TNFRSF14	8764	broad.mit.edu	37	1	2492072	2492072	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	uc001ajr.3	+	4	769	c.470G>T	c.(469-471)aGt>aTt	p.S157I	TNFRSF14_uc009vlf.1_Missense_Mutation_p.S157I|TNFRSF14_uc001ajt.1_Missense_Mutation_p.V327F	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	157					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632000			"""Mis, N, F"""		follicular lymphoma									13			4		0.00909568	0.00943891	0.009096	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186946833	186946833	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	uc001gsc.3	+	15	2078	c.1873C>G	c.(1873-1875)Ccc>Gcc	p.P625A	PLA2G4A_uc010pos.2_Missense_Mutation_p.P565A	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	625	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)	TGTCTTTAAACCCAAGAATCC	0.443000														82			29		0	0	0.007291	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														70			5		0	0	0.001984	0	0
RBFA	79863	broad.mit.edu	37	18	77794645	77794645	+	Silent	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:77794645G>C	uc002lns.3	+	0	300	c.150G>C	c.(148-150)tcG>tcC	p.S50S	TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Silent_p.S50S|RBFA_uc010dri.2_Non-coding_Transcript	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	50					rRNA processing	mitochondrion		p.S50S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AATTTGCCTCGAAAACCAAGT	0.632000														34			12		0	0	0.001855	0	0
NLRP11	204801	broad.mit.edu	37	19	56321528	56321528	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	uc010ygf.2	-	4	1159	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	NLRP11_uc002qlz.3_Missense_Mutation_p.F51L|NLRP11_uc002qmb.3_Missense_Mutation_p.F51L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCATCAGGAACACATTGAGA	0.388000														32			12		0	0	0.010729	0	0
TRIM35	23087	broad.mit.edu	37	8	27145295	27145295	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	uc003xfl.1	-	5	1336	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	418	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667000														10			4		0	0	0.009096	0	0
BC139719	0	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	A	A	rs13337896	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000														32			4		0	0	0.009096	0	0
MEP1B	4225	broad.mit.edu	37	18	29787227	29787227	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	uc002kxj.4	+	7	607	c.560A>G	c.(559-561)aAt>aGt	p.N187S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	187	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAGAGCACAATTTTAACACC	0.333000														18			4		0	0	0.009096	0	0
TYR	7299	broad.mit.edu	37	11	88911234	88911234	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	uc001pcs.3	+	0	195	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	38					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.P38P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547000														41			21		0	0	0.010504	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736304	56736304	+	Missense_Mutation	SNP	C	T	T	rs145104621	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	uc002qmq.3	-	1	278	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V38M|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V38M	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGGGTCCACGTCGTGATTT	0.532000														80			14		0	0	0.001855	0	0
GREB1	9687	broad.mit.edu	37	2	11728938	11728938	+	Missense_Mutation	SNP	C	T	T	rs151098036	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	uc002rbk.1	+	9	1526	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	GREB1_uc002rbn.1_Missense_Mutation_p.T409M|GREB1_uc002rbo.1_Missense_Mutation_p.T43M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592000														86			6		0	0	0.001984	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602275	234602275	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	uc002vuv.4	+	0	764	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.V209L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	210			R -> W (in CN2; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R209L(2)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCCCAACGAGTGGCCAACTT	0.448000														127			63		0	0	0.014410	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152105	55152105	+	Missense_Mutation	SNP	A	G	G	rs121913268		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	uc003han.4	+	17	2868	c.2537A>G	c.(2536-2538)gAt>gGt	p.D846G	PDGFRA_uc003haa.3_Missense_Mutation_p.D606G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	846	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.(814_854)?(57)|p.D842_H845del(44)|p.I843_D846del(37)|p.M844_S847del(11)|p.I843_S847>T(10)|p.D842_D846>E(5)|p.H845_N848>P(4)|p.D842_D846>H(4)|p.D842_D846del(2)|p.D842_S847>EA(2)|p.D846Y(2)|p.D842_D846>S(2)|p.D842_D846>G(2)|p.D842_D846>A(2)|p.D842_H845>V(2)|p.M844_S847>P(2)|p.I843_S847>L(1)|p.I843_S847>H(1)|p.I843_S847>I(1)|p.H845_N848del(1)|p.D846A(1)|p.H845Y(1)|p.D842_S847>RV(1)|p.D842_H845>A(1)|p.D842_H845>Y(1)|p.D842_D846>N(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				141			7		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000														59			4		0	0	0.001168	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														61			7		0	0	0.001984	0	0
CXCR2	3579	broad.mit.edu	37	2	219000407	219000407	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	uc002vgz.2	+	3	1093	c.883G>C	c.(883-885)Gct>Cct	p.A295P	CXCR2_uc002vha.2_Missense_Mutation_p.A295P|CXCR2_uc002vhb.2_Missense_Mutation_p.A295P|CXCR2_uc021vwp.1_Missense_Mutation_p.A295P	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCGACCGGGCTCTGGATGC	0.592000														67			27		0	0	0.003954	0	0
C19orf66	55337	broad.mit.edu	37	19	10202008	10202008	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	uc002mmu.4	+	5	765	c.467C>T	c.(466-468)cCg>cTg	p.P156L	C19orf66_uc002mmv.4_Missense_Mutation_p.P156L|C19orf66_uc002mmw.4_Missense_Mutation_p.P105L	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	156										large_intestine(3)|skin(1)	4						TTCCACTGCCCGAAGTGTCGG	0.692000														21			9		0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)				13			18		0	0	0.004990	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									56			29		0	0	0.007291	0	0
SPATA6	54558	broad.mit.edu	37	1	48771507	48771507	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	uc001crr.2	-	11	1434	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	SPATA6_uc001crs.2_Missense_Mutation_p.R397T|SPATA6_uc010omv.2_Missense_Mutation_p.R399T	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	413					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAAAGACTTCTTTTCAGTTC	0.353000														164			7		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664743G>A	uc021wml.1	+	32		c.2843G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CAGACTAAAGGCAAACAAGGA	0.498000														31			3		0	0	0.000602	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	T	T	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	uc003fjk.3	+	20	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				79			12		0	0	0.010729	0	0
MAU2	23383	broad.mit.edu	37	19	19456112	19456112	+	Splice_Site	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:19456112G>A	uc002nmk.4	+	12	1195	c.1156_splice	c.e12-1	p.G386_splice	MAU2_uc002nml.4_5'UTR|MAU2_uc010ecd.3_5'Flank|MAU2_uc010ece.3_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	386					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTCTTCCAGGGCCTGTACT	0.672000														66			34		0	0	0.003271	0	0
MYO3A	53904	broad.mit.edu	37	10	26241102	26241102	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	uc001isn.2	+	2	423	c.63G>C	c.(61-63)tgG>tgC	p.W21C	MYO3A_uc009xko.1_Missense_Mutation_p.W21C|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.W21C|MYO3A_uc001ism.2_Missense_Mutation_p.W21C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	21	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGATACATGGGAAATCACTG	0.328000														50			16		0	0	0.004007	0	0
TEAD4	7004	broad.mit.edu	37	12	3129912	3129912	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	uc010sej.2	+	8	988	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TEAD4_uc010sek.2_Silent_p.F189F|TEAD4_uc001qln.3_Silent_p.F103F	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	232					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCTGCCTTCCTGGAGCAGC	0.682000														51			21		0	0	0.002780	0	0
UNC13C	440279	broad.mit.edu	37	15	54306802	54306802	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	uc021smr.1	+	0	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	UNC13C_uc021sms.1_Nonsense_Mutation_p.Q568*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGAAAATCAGTTTTTCAC	0.428000														35			12		0	0	0.010729	0	0
FSD1	79187	broad.mit.edu	37	19	4318904	4318904	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	uc002lzy.2	+	9	1148	c.995G>A	c.(994-996)cGt>cAt	p.R332H	FSD1_uc002maa.2_Missense_Mutation_p.R145H	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597000														32			20		0	0	0.010504	0	0
PRDM13	59336	broad.mit.edu	37	6	100062262	100062262	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	uc003pqg.1	+	3	2012	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S583*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.662000														26			3		0	0	0.009096	0	0
MTOR	2475	broad.mit.edu	37	1	11184641	11184641	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	uc001asd.3	-	46	6697	c.6576G>A	c.(6574-6576)ctG>ctA	p.L2192L	MTOR_uc001asc.3_Silent_p.L397L	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2192	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CATCCTGGCGCAGATCTTCAT	0.507000														50			13		0	0	0.001855	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295595	160295595	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	uc002uao.3	-	6	1230	c.825A>T	c.(823-825)gaA>gaT	p.E275D	BAZ2B_uc002uap.3_Missense_Mutation_p.E273D|BAZ2B_uc002uas.1_Missense_Mutation_p.E212D|BAZ2B_uc002uau.1_Missense_Mutation_p.E273D|BAZ2B_uc002uaq.1_Missense_Mutation_p.E203D|BAZ2B_uc002uat.4_Missense_Mutation_p.E212D|BAZ2B_uc010fop.1_Missense_Mutation_p.E273D	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	275	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACTTTGAtcttcttcttctt	0.363000														108			13		0	0	0.013537	0	0
GNAO1	2775	broad.mit.edu	37	16	56388962	56388962	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	uc002eiu.4	+	7	1959	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*		NM_020988	NP_066268	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA.	354					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.527000														49			18		0	0	0.006122	0	0
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:140432891_140432892insG	uc003ihw.3	-	7	1312_1313	c.1026_1027insC	c.(1024-1029)cccgggfs	p.P342fs		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	342					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	p.G343V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609													---	96	---	---	22	---					
OR5T3	390154	broad.mit.edu	37	11	56020656	56020656	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	uc010rjd.2	+	0	981	c.981delA	c.(979-981)gtafs	p.V327fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323													---	59	---	---	18	---					
