Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
EMC4	51234	broad.mit.edu	37	15	34517776	34517776	+	Silent	SNP	C	C	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr15:34517776C>G	ENST00000267750.4	+	2	242	c.126C>G	c.(124-126)ctC>ctG	p.L42L	EMC4_ENST00000557879.1_Silent_p.L42L|EMC4_ENST00000559078.1_Silent_p.L42L|EMC4_ENST00000249209.4_Silent_p.L42L|EMC4_ENST00000559421.1_Silent_p.L42L	NM_016454.2	NP_057538.1			ER membrane protein complex subunit 4																		GAGACTCGCTCTACCCAGTCG	0.512000													49	85					0	0	0.014410	0	0
SKI	6497	broad.mit.edu	37	1	2161050	2161050	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	ENST00000378536.4	+	1	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian 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			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	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
SIX2	10736	broad.mit.edu	37	2	45236135	45236135	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	ENST00000303077.6	-	1	434	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	39						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647000													3	22					0	0	0.009096	0	0
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					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			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343000													4	47					0	0	0.009096	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	27					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179611497	179611497	+	Silent	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:179611497T>C	ENST00000360870.5	-	46	15852	c.15630A>G	c.(15628-15630)ccA>ccG	p.P5210P	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8729	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			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
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	21					0	0	0.004672	0	0
COL21A1	0	broad.mit.edu	37	6	56044619	56044619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	ENST00000244728.5	-	3	794	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R133*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R133*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCAGAAATCGTGAGGACTTG	0.448000													8	26					0	0	0.003080	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								10	51					0	0	0.006214	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	37					0	0	0.001168	0	0
ENOSF1	55556	broad.mit.edu	37	18	706562	706562	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	ENST00000251101.7	-	2	189	c.101A>G	c.(100-102)tAc>tGc	p.Y34C	ENOSF1_ENST00000539164.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000383578.3_5'UTR|RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Y55C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Y34C	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498000													8	61					0	0	0.004007	0	0
NACAP1	0	broad.mit.edu	37	8	102381603	102381603	+	RNA	SNP	C	C	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr8:102381603C>G	ENST00000419462.1	+	0	1015					NR_002182.1																						CAAGAAAACACACAGACTCCA	0.423000													4	65					0	0	0.009096	0	0
RASA1	5921	broad.mit.edu	37	5	86675592	86675592	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	ENST00000456692.2	+	19	2112	c.1997C>A	c.(1996-1998)aCt>aAt	p.T666N	RASA1_ENST00000506290.1_Missense_Mutation_p.T677N|RASA1_ENST00000512763.1_Missense_Mutation_p.T676N|RASA1_ENST00000274376.6_Missense_Mutation_p.T843N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	843	C2.				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			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		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	0.000264875	0.009096	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274235	39274235	+	Silent	SNP	G	G	A	rs11654403	by1000genomes	TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr17:39274235G>A	ENST00000391413.2	-	1	371	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	111	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R111R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagctggggcgacagcagc	0.652000													4	29					0	0	0.000602	0	0
C1orf168	199920	broad.mit.edu	37	1	57185712	57185712	+	Silent	SNP	A	A	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	ENST00000343433.6	-	19	2228	c.2148T>C	c.(2146-2148)atT>atC	p.I716I		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	716										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTAGATGTTCAATGAGCACAT	0.259000													8	27					0	0	0.004482	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239871	135239871	+	Silent	SNP	C	C	T			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	ENST00000265605.2	-	7	1214	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_ENST00000367845.2_Silent_p.K328K|ALDH8A1_ENST00000367847.2_Silent_p.K332K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	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
GSK3B	2932	broad.mit.edu	37	3	119720905	119720905	+	Silent	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	ENST00000264235.8	-	2	1252	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_ENST00000316626.5_Silent_p.D90D	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	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			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				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	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	ENST00000498619.1	+	7	3246	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	CASR_ENST00000490131.1_Silent_p.Q926Q|CASR_ENST00000296154.5_Silent_p.Q926Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	926					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			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647000													8	37					0	0	0.003080	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473238	50473238	+	RNA	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr19:50473238G>A	ENST00000602139.1	+	0	239									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GCCCAAAGACGGGTGCTCCTG	0.587000													3	33					0	0	0.004672	0	0
NRROS	375387	broad.mit.edu	37	3	196386962	196386962	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:196386962G>A	ENST00000328557.4	+	3	651	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGACATGGCAGCCCTCATGCT	0.662000													7	18					0	0	0.004482	0	0
XRCC5	7520	broad.mit.edu	37	2	216983868	216983868	+	Silent	SNP	T	T	C			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	ENST00000392133.3	+	7	932	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_ENST00000392132.2_Silent_p.C157C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	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			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		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								Non-homologous end-joining					3	31					0	0	0.004672	0	0
PCDHGC5	0	broad.mit.edu	37	5	140869610	140869610	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	ENST00000252087.1	+	1	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		268	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCACTGATCCAGACGAG	0.527000													41	108					0	0	0.008740	0	0