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
SKI	6497	broad.mit.edu	37	1	2161050	2161050	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	uc001aja.3	+	1	917	c.845G>A	c.(844-846)CGG>CAG	p.R282Q		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	282					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCAACTGGCGGGCCTACATC	0.642000													5	12					0	0	0.003080	0	0
C1orf168	199920	broad.mit.edu	37	1	57185712	57185712	+	Silent	SNP	A	G	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	uc001cym.3	-	19	2554	c.2148T>C	c.(2146-2148)ATT>ATC	p.I716I	C1orf168_uc001cyl.2_RNA	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	716										ovary(3)|skin(2)	5						CTAGATGTTCAATGAGCACAT	0.259000													8	27					0	0	0.004482	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577849	116577849	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:116577849C>T	uc001egb.3	+	7	1116	c.986C>T	c.(985-987)GCG>GTG	p.A329V		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport	integral to membrane	transmembrane transporter activity			large_intestine(2)	2	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGAGTGCGGGTGATCTA	0.453000													3	45					0	0	0.009096	0	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	C	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:186276100A>C	uc001gru.3	+	7	1300	c.1249A>C	c.(1249-1251)ACC>CCC	p.T417P	PRG4_uc001grt.3_Missense_Mutation_p.T376P|PRG4_uc009wyl.2_Missense_Mutation_p.T324P|PRG4_uc009wym.2_Missense_Mutation_p.T283P|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	417	9.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						ACCCACCACCACCAAGGAGCC	0.652000													6	55					0	0	0.013537	0	0
LOC284232	284232	broad.mit.edu	37	13	19409703	19409703	+	RNA	SNP	C	T	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr13:19409703C>T	uc010tcj.1	-	1		c.36407G>A				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						AGTTGCTGTTCAAGCCATGGA	0.378000													5	82					0	0	0.001168	0	0
TMEM85	51234	broad.mit.edu	37	15	34517776	34517776	+	Silent	SNP	C	G	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr15:34517776C>G	uc001zhq.2	+	2	197	c.126C>G	c.(124-126)CTC>CTG	p.L42L	TMEM85_uc010ucb.1_Silent_p.L42L|TMEM85_uc001zhr.2_RNA|TMEM85_uc001zhs.2_Silent_p.L42L|TMEM85_uc010bat.2_Intron	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	transmembrane protein 85	42					apoptosis	integral to membrane					0		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		GAGACTCGCTCTACCCAGTCG	0.512000													49	85					0	0	0.014410	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	T	T	rs113059833	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr17:39261693A>T	uc010wfp.1	+	1	53	c.53A>T	c.(52-54)GAC>GTC	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament					0						TGCGGCCAAGACCTCTGTCAG	0.627000													4	37					0	0	0.001168	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274235	39274235	+	Silent	SNP	G	A	A	rs11654403	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr17:39274235G>A	uc002hvz.2	-	1	372	c.333C>T	c.(331-333)CGC>CGT	p.R111R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	111	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|18.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagctggggcgacagcagc	0.194000													4	29					0	0	0.000602	0	0
Unknown	0	broad.mit.edu	37	17	45105705	45105705	+	RNA	SNP	A	G	G	rs147936028	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr17:45105705A>G	uc010wki.1	+	5		c.1307A>G								Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.																		GCCTGGCACGAAATGCAGTTT	0.303000													6	144					0	0	0.001168	0	0
ENOSF1	55556	broad.mit.edu	37	18	706562	706562	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	uc002kku.3	-	2	176	c.101A>G	c.(100-102)TAC>TGC	p.Y34C	ENOSF1_uc002kkt.3_5'UTR|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.Y55C|ENOSF1_uc002kkv.3_Missense_Mutation_p.Y34C|ENOSF1_uc002kkw.3_5'UTR|ENOSF1_uc002kkx.3_Missense_Mutation_p.Y34C|ENOSF1_uc010wyt.1_RNA	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GGCAGCCGAGTAGTCAGGGTC	0.498000													8	61					0	0	0.004007	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473238	50473238	+	RNA	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr19:50473238G>A	uc002prf.2	+	2		c.257G>A			SIGLEC16_uc010ybj.1_5'Flank|uc010ybk.1_5'Flank	NR_002825				Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.												0						GCCCAAAGACGGGTGCTCCTG	0.587000													3	33					0	0	0.004672	0	0
SIX2	10736	broad.mit.edu	37	2	45236135	45236135	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	uc002ruo.2	-	1	408	c.115G>A	c.(115-117)GCC>ACC	p.A39T	SIX2_uc002rup.2_Missense_Mutation_p.A39T	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	39						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647000													3	22					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179611497	179611497	+	Silent	SNP	T	C	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:179611497T>C	uc002unb.2	-	46	15854	c.15630A>G	c.(15628-15630)CCA>CCG	p.P5210P	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	8729							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAGGAACTGGAAGACCTT	0.368000													33	85					0	0	0.010818	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	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 								10	51					0	0	0.006214	0	0
XRCC5	7520	broad.mit.edu	37	2	216983868	216983868	+	Silent	SNP	T	C	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	uc002vfy.2	+	5	611	c.471T>C	c.(469-471)TGT>TGC	p.C157C	XRCC5_uc002vfz.2_Silent_p.C43C	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	157	Leucine-zipper.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAAGAAATGTGACATCTCCC	0.368000								Direct_reversal_of_damage|NHEJ					3	31					0	0	0.004672	0	0
C21orf99	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	A	A	rs2821609	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr21:14414902G>A	uc002yiy.3	+	2		c.339G>A			C21orf99_uc002yja.3_RNA					Homo sapiens C21orf99 protein (C21orf99) mRNA, complete cds.												0						CCAGCTTGACGTCCTTGATGG	0.443000													4	27					0	0	0.001168	0	0
GSK3B	2932	broad.mit.edu	37	3	119720905	119720905	+	Silent	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	uc003edo.2	-	2	1253	c.270C>T	c.(268-270)GAC>GAT	p.D90D	GSK3B_uc003edn.2_Silent_p.D90D	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	90	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TAAATCTCTTGTCCTGCAATA	0.338000													20	90					0	0	0.008871	0	0
CASR	846	broad.mit.edu	37	3	122003579	122003579	+	Silent	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	uc003eev.3	+	7	3150	c.2778G>A	c.(2776-2778)CAG>CAA	p.Q926Q	CASR_uc003eew.3_Silent_p.Q936Q	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	926	Cytoplasmic (Potential).			Q -> R (in Ref. 2; AAA86503).	anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647000													8	37					0	0	0.003080	0	0
LRRC33	375387	broad.mit.edu	37	3	196386962	196386962	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:196386962G>A	uc003fwv.2	+	3	552	c.448G>A	c.(448-450)GCG>ACG	p.A150T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	150	Extracellular (Potential).|LRR 4.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGACATGGCAGCCCTCATGCT	0.662000													7	18					0	0	0.004482	0	0
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	T	T	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	uc003gtl.2	-	4	988	c.714G>A	c.(712-714)GCG>GCA	p.A238A		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	238	Extracellular (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						TTTGAAGTTTCGCCAGAATAC	0.343000													4	47					0	0	0.009096	0	0
Unknown	0	broad.mit.edu	37	4	88813659	88813659	+	Missense_Mutation	SNP	C	G	G	rs3828552	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:88813659C>G	uc010iko.1	+	2	603	c.603C>G	c.(601-603)GAC>GAG	p.D201E						SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;																		AGGAACAAGACAAGGAAATTA	0.234000													4	59					0	0	0.009096	0	0
RASA1	5921	broad.mit.edu	37	5	86675592	86675592	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	uc003kiw.2	+	19	2646	c.2528C>A	c.(2527-2529)ACT>AAT	p.T843N	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.T666N|RASA1_uc011ctv.1_Missense_Mutation_p.T676N|RASA1_uc011ctw.1_Missense_Mutation_p.T677N|RASA1_uc010jaw.2_Missense_Mutation_p.T665N	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	843	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GATGTGAACACTAATTTAACA	0.313000													4	64					0.00024832	0.00026384	0.009096	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140869610	140869610	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	uc003lla.1	+	1	803	c.803A>G	c.(802-804)GAT>GGT	p.D268G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D268G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	268	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCACTGATCCAGACGAG	0.527000													41	108					0	0	0.008740	0	0
COL21A1	81578	broad.mit.edu	37	6	56044619	56044619	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	uc003pcs.2	-	3	629	c.397C>T	c.(397-399)CGA>TGA	p.R133*	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Nonsense_Mutation_p.R133*|COL21A1_uc003pcu.1_Nonsense_Mutation_p.R133*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCAGAAATCGTGAGGACTTG	0.448000													8	26					0	0	0.003080	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239871	135239871	+	Silent	SNP	C	T	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	uc003qew.2	-	7	1199	c.1146G>A	c.(1144-1146)AAG>AAA	p.K382K	ALDH8A1_uc003qex.2_Silent_p.K328K|ALDH8A1_uc010kgh.2_Silent_p.K160K|ALDH8A1_uc011ecx.1_Silent_p.K332K	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCATCCTTAATGTCTG	0.498000													24	84					0	0	0.003954	0	0
PLAC4	191585	broad.mit.edu	37	21	42551272	42551272	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr21:42551272delC	uc002yyz.2	-	1	5895	c.284delG	c.(283-285)GGAfs	p.G95fs	BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	placenta-specific 4	95											0		Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.030													2	4	---	---	---	---					
