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
TMEM85	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	uc001zhq.3	+	1	197	c.126C>G	c.(124-126)ctC>ctG	p.L42L	TMEM85_uc010ucb.1_Silent_p.L42L|TMEM85_uc001zhs.3_Silent_p.L42L	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	Homo sapiens transmembrane protein 85 (TMEM85), mRNA.	42					apoptosis	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7		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	1	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	uc001aja.4	+	0	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	282					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|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 BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|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 Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor 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	1	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	uc002ruo.3	-	0	408	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	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	1	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	uc003gtl.3	-	3	988	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_uc021xnn.1_Silent_p.A238A	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	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	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	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	1	0	0
ANKRD30BP2	149992	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	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000													4	27					0	0	1	0	0
abParts	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	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000													3	21					0	0	1	0	0
COL21A1	81578	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	uc003pcs.3	-	2	629	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Nonsense_Mutation_p.R133*|COL21A1_uc003pcu.1_Nonsense_Mutation_p.R133*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R133Q(1)		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	1	0	0
abParts	0	broad.mit.edu	37	14	107062402	107062402	+	RNA	SNP	G	G	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.chr14:107062402G>C	uc021ser.1	-	150		c.6584C>G								Parts of antibodies, mostly variable regions.																		TCCTGGGCCCGACTCCTGCAG	0.597000													6	45					0	0	1	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	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								10	51					0	0	1	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	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		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	1	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	uc010dkf.3	-	1	175	c.164A>G	c.(163-165)tAc>tGc	p.Y55C	ENOSF1_uc002kku.4_Missense_Mutation_p.Y34C|ENOSF1_uc002kkt.4_5'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_5'UTR|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	p.I54I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498000													8	61					0	0	1	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	uc003kiw.3	+	18	2727	c.2528C>A	c.(2527-2529)aCt>aAt	p.T843N	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.T666N|RASA1_uc011ctv.2_Missense_Mutation_p.T676N|RASA1_uc011ctw.2_Missense_Mutation_p.T677N|RASA1_uc010jaw.3_Missense_Mutation_p.T665N	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	843	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor 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	0.00024832	1	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	uc002hvz.3	-	0	372	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	111	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R111R(2)		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	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813659	88813659	+	Missense_Mutation	SNP	C	C	G	rs3828552	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.chr4:88813659C>G	uc010iko.1	+	1	603	c.603C>G	c.(601-603)gaC>gaG	p.D201E						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGGAACAAGACAAGGAAATTA	0.418000													4	59					0	0	1	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	uc001cym.4	-	18	2554	c.2148T>C	c.(2146-2148)atT>atC	p.I716I	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	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	1	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	uc003qew.3	-	6	1215	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_uc011ecx.2_Silent_p.K332K|ALDH8A1_uc003qex.3_Silent_p.K328K|ALDH8A1_uc010kgh.3_Silent_p.K160K	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.I381S(1)		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	1	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	uc003edo.3	-	1	1253	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_uc003edn.3_Silent_p.D90D	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	90	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|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 Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|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|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|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	1	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	uc003eew.4	+	6	3246	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	CASR_uc003eev.4_Silent_p.Q926Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	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	1	0	0
LRRC33	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	uc003fwv.3	+	2	552	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	150						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	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	1	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	uc002vfy.3	+	4	611	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_uc002vfz.3_Silent_p.C43C	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	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	1	0	0
PCDHGC5	56097	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	uc003lla.2	+	0	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.D268G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	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	1	0	0
PLAC4	191585	broad.mit.edu	37	21	42551272	42551272	+	Frame_Shift_Del	DEL	C	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.chr21:42551272delC	uc002yyz.3	-	0	5895	c.284delG	c.(283-285)ggafs	p.G95fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	95													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.602													2	4	---	---	---	---					
