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
HLA-DMB	3109	broad.mit.edu	37	6	32906668	32906668	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	uc003ocl.2	-	1	393	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.I44L|HLA-DMB_uc011dql.2_Missense_Mutation_p.I44L	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	44	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527000														50			21		0	0	0.624587	0	0
TACC2	10579	broad.mit.edu	37	10	123844064	123844064	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	uc001lfv.3	+	3	2409	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P683P|TACC2_uc010qtv.2_Silent_p.P683P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	683						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582000														2			4		0	0	0.150653	0	0
C14orf49	161176	broad.mit.edu	37	14	95932397	95932397	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr14:95932397C>T	uc001yei.4	-	2	513	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C14orf49_uc010avi.3_Silent_p.Q166Q|C14orf49_uc001yej.1_Silent_p.Q166Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	166					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGAGCACCGCCTGGTTGTCCA	0.637000														31			20		0	0	0.624587	0	0
KCNS3	3790	broad.mit.edu	37	2	18113040	18113040	+	Silent	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	uc021veh.1	+	0	765	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_uc002rcv.3_Silent_p.L255L|KCNS3_uc002rcw.3_Silent_p.L255L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512000														51			37		0	0	0.804634	0	0
EPN3	55040	broad.mit.edu	37	17	48616618	48616618	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	uc010wms.2	+	4	1105	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	EPN3_uc002ira.4_Missense_Mutation_p.R278Q|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.R251Q			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	278						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597000														30			18		0	0	0.520397	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	uc004fbz.3	-	1	995	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	81								p.V81F(2)|p.R90R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453000														16			132		0	0	0.870114	0	0
TTC21A	199223	broad.mit.edu	37	3	39179140	39179140	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	uc003cjc.2	+	25	3812	c.3635G>C	c.(3634-3636)tGc>tCc	p.C1212S	TTC21A_uc011ayx.1_Missense_Mutation_p.C1164S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Missense_Mutation_p.C333S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1212							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607000														13			4		0	0	0.150653	0	0
ANKRD1	27063	broad.mit.edu	37	10	92678671	92678671	+	Missense_Mutation	SNP	A	G	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	uc001khe.1	-	3	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	135					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343000														18			18		0	0	0.539581	0	0
PAK6	56924	broad.mit.edu	37	15	40558146	40558146	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	uc010bbl.3	+	4	748	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_uc010bbm.3_Missense_Mutation_p.R103H|PAK6_uc001zky.4_Missense_Mutation_p.R103H|PAK6_uc010bbn.3_Missense_Mutation_p.R103H|PAK6_uc001zlb.3_Missense_Mutation_p.R103H	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	103	Linker.		R -> C (in dbSNP:rs36081263).				ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667000														10			3		0	0	0.115264	0	0
G6PC2	57818	broad.mit.edu	37	2	169764413	169764413	+	Missense_Mutation	SNP	T	G	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	uc002uem.3	+	4	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.L182V	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	298					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473000														70			37		0	0	0.834066	0	0
GRIA1	2890	broad.mit.edu	37	5	153056693	153056693	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	uc011dcy.2	+	6	1058	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	GRIA1_uc003lva.4_Missense_Mutation_p.G334E|GRIA1_uc003luy.4_Missense_Mutation_p.G334E|GRIA1_uc003luz.4_Missense_Mutation_p.G239E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G254E|GRIA1_uc011dcx.2_Missense_Mutation_p.G265E|GRIA1_uc011dcz.2_Missense_Mutation_p.G344E|GRIA1_uc010jia.1_Missense_Mutation_p.G314E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	334					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537000														15			5		0	0	0.217242	0	0
LAMB1	3912	broad.mit.edu	37	7	107616242	107616242	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	uc003vev.2	-	7	1314	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LAMB1_uc003vew.2_Missense_Mutation_p.V361M|LAMB1_uc003vex.3_Missense_Mutation_p.V361M|LAMB1_uc010ljn.1_Missense_Mutation_p.V447M	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	361	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCACACACGCCTCCGCTG	0.517000														57			25		0	0	0.639603	0	0
ITPR1	3708	broad.mit.edu	37	3	4819013	4819013	+	Silent	SNP	C	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	uc003bqc.3	+	46	6551	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_uc021wsi.1_Silent_p.I2034I|ITPR1_uc021wsj.1_Silent_p.I2019I|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2082					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAATGATATCAATCCTTTGG	0.423000														7			5		0.00198382	0.00200958	0.248553	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95657632	95657632	+	Splice_Site	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	uc003uoc.4	+	11	1444	c.1167_splice	c.e11+1	p.T389_splice	DYNC1I1_uc003uod.4_Splice_Site_p.T372_splice|DYNC1I1_uc003uob.3_Splice_Site_p.T352_splice|DYNC1I1_uc003uoe.4_Splice_Site_p.T369_splice|DYNC1I1_uc010lfl.3_Splice_Site_p.T378_splice	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	389					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493000														55			24		0	0	0.667858	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	uc010ngt.1	+	1	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_uc022bus.1_Missense_Mutation_p.S60C	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532000														1			9		0	0	0.307466	0	0
NLRP9	338321	broad.mit.edu	37	19	56244617	56244617	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	uc002qly.3	-	1	608	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453000														30			4		0	0	0.150653	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														22			3		0	0	0.115264	0	0
X97876	0	broad.mit.edu	37	9	66499795	66499795	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:66499795G>A	uc004aee.1	+	0	605	c.605G>A	c.(604-606)cGc>cAc	p.R202H	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGCAAGTCGCGCAAGGAGCAG	0.592000														53			5		0	0	0.335167	0	0
OR4F6	390648	broad.mit.edu	37	15	102346763	102346763	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	uc010utr.2	+	0	841	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343000														28			23		0	0	0.608945	0	0
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	uc001lta.3	+	30	13555	c.13496C>T	c.(13495-13497)tCc>tTc	p.S4499F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642000														86			58		0	0	0.870114	0	0
ACLY	47	broad.mit.edu	37	17	40040509	40040509	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	uc002hyg.3	-	18	2254	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_uc002hyh.3_Missense_Mutation_p.F687L|ACLY_uc002hyi.3_Missense_Mutation_p.F751L|ACLY_uc010wfx.2_Missense_Mutation_p.F741L|ACLY_uc010wfy.2_Missense_Mutation_p.F426L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	697					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438000														27			20		0	0	0.608945	0	0
GPR98	84059	broad.mit.edu	37	5	90136725	90136725	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	uc003kju.3	+	77	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_uc003kjt.3_Missense_Mutation_p.L3354F|GPR98_uc003kjw.3_Missense_Mutation_p.L1309F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5648					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423000														23			16		0	0	0.479597	0	0
SH3TC2	79628	broad.mit.edu	37	5	148411245	148411245	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	uc003lpu.3	-	8	1159	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_5'UTR|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.R329K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.R221K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	336							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522000														16			17		0	0	0.500413	0	0
MST1P2	11209	broad.mit.edu	37	1	16976345	16976345	+	RNA	SNP	T	C	C	rs139809665	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:16976345T>C	uc010och.2	+	12		c.2190T>C			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTTGCTGAATGTCATCTCCA	0.582000														72			6		0	0	0.278610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223421	50223421	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	uc001zxu.3	-	15	1679	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_uc010ber.3_Missense_Mutation_p.R386W|ATP8B4_uc010ufd.2_Intron|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S512S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398000														25			17		0	0	0.520397	0	0
DOCK5	80005	broad.mit.edu	37	8	25198440	25198440	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	uc003xeg.3	+	22	2512	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R506H|DOCK5_uc003xei.3_Missense_Mutation_p.R362H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R792H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398000														6			8		0	0	0.307466	0	0
TCTE3	6991	broad.mit.edu	37	6	170144257	170144257	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	uc003qxe.1	-	1	318	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	Homo sapiens t-complex-associated-testis-expressed 3 (TCTE3), mRNA.	78					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373000														25			17		0	0	0.539581	0	0
OR1N1	138883	broad.mit.edu	37	9	125289214	125289214	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	uc004bmn.1	-	0	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512000														30			4		0	0	0.150653	0	0
USH2A	7399	broad.mit.edu	37	1	216251647	216251647	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	uc001hku.1	-	26	5743	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1786	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCCACTTGTGTAAAGGCA	0.348000										HNSCC(13;0.011)				169			119		0	0	0.870114	0	0
CATSPERD	257062	broad.mit.edu	37	19	5727283	5727283	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:5727283G>A	uc002mda.3	+	2	192	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	44						integral to membrane											CTCTAGGACCGCCTGTATTTT	0.338000														69			28		0	0	0.706142	0	0
ASAP1	50807	broad.mit.edu	37	8	131149272	131149272	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	uc003yta.2	-	13	1321	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_uc003ysz.2_Missense_Mutation_p.P176T|ASAP1_uc011liw.2_Missense_Mutation_p.P358T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	365	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448000														38			29		1.13719e-10	1.16712e-10	0.729181	1	0
ACSM4	341392	broad.mit.edu	37	12	7477158	7477158	+	Silent	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	uc001qsx.1	+	10	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428000														29			15		0	0	0.500413	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022430	131022430	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	uc011maw.2	-	17	1729	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Silent_p.S45S|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	572						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592000														46			28		0	0	0.769981	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr4:140811099C>T	uc021xsg.1	-	1	2243	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	497	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000														26			3		0	0	0.115264	0	0
ALG5	29880	broad.mit.edu	37	13	37569684	37569684	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	uc001uvy.3	-	1	183	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_uc010teq.2_Missense_Mutation_p.R39Q|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	39					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383000														38			15		0	0	0.479597	0	0
MYO5A	4644	broad.mit.edu	37	15	52622646	52622646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	uc002aby.2	-	33	4628	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_uc002abx.3_Nonsense_Mutation_p.R1435*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.R184*|MYO5A_uc002abz.1_Non-coding_Transcript	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R1462R(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413000														71			56		0	0	0.870114	0	0
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	C	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	uc003pvu.2	-	17	2584	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_uc003pvv.2_Missense_Mutation_p.L752V|LAMA4_uc003pvt.2_Missense_Mutation_p.L752V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517000														7			26		0	0	0.706142	0	0
MYH14	79784	broad.mit.edu	37	19	50750373	50750373	+	Silent	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	uc010enu.1	+	11	1370	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	MYH14_uc002prq.1_Silent_p.K441K|MYH14_uc002prr.1_Silent_p.K433K	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	433	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597000														19			8		0	0	0.278610	0	0
VSX1	30813	broad.mit.edu	37	20	25057044	25057044	+	Silent	SNP	A	C	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	uc002wuf.3	-	4	986	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	317					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542000														58			31		0	0	0.750413	0	0
SPNS1	83985	broad.mit.edu	37	16	28995597	28995597	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	uc010vdi.1	+	12	1704	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P449S|SPNS1_uc002dsa.2_Missense_Mutation_p.P522S|SPNS1_uc002drz.2_Missense_Mutation_p.P470S|SPNS1_uc010byp.2_Missense_Mutation_p.P448S|LAT_uc002dsb.3_5'UTR|LAT_uc002dsd.3_5'UTR|LAT_uc002dsc.3_5'UTR|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	522					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697000														18			9		0	0	0.335167	0	0
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	uc001ggm.4	-	5	1050	c.893C>T	c.(892-894)aCg>aTg	p.T298M	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443000														33			34		0	0	0.812448	0	0
CHST4	10164	broad.mit.edu	37	16	71570880	71570880	+	Silent	SNP	C	T	T	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	uc021tkt.1	+	0	300	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CHST4_uc002fan.3_Silent_p.A100A|CHST4_uc002fao.3_Silent_p.A100A	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	100					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R99R(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582000														35			22		0	0	0.639603	0	0
OR5F1	338674	broad.mit.edu	37	11	55761801	55761801	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	uc010riv.2	-	0	301	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100H(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463000														53			29		0	0	0.750413	0	0
GUCY2C	2984	broad.mit.edu	37	12	14809526	14809526	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	uc001rcd.3	-	11	1527	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	464			R -> L (in dbSNP:rs55684775).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTTCTGACGAAGTTCATAA	0.373000														38			25		0	0	0.654019	0	0
COL1A1	1277	broad.mit.edu	37	17	48270361	48270361	+	Silent	SNP	G	A	A	rs72651616		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	uc002iqm.3	-	25	1941	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	605	Triple-helical region.		G -> D (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G605G(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACGACAGCGCCAGGGGGTC	0.627000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							15			5		0	0	0.217242	0	0
DDX26B	203522	broad.mit.edu	37	X	134706886	134706886	+	Silent	SNP	G	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	uc004eyw.4	+	10	1797	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_uc004eyx.4_Silent_p.G79G	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353000														7			28		3.73148e-12	3.88074e-12	0.717897	1	0
COL6A3	1293	broad.mit.edu	37	2	238275437	238275437	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	uc002vwl.2	-	10	5678	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_uc002vwo.2_Missense_Mutation_p.R1592H|COL6A3_uc010znj.1_Missense_Mutation_p.R1191H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1798	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1798H(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547000														50			31		0	0	0.729181	0	0
PDE2A	5138	broad.mit.edu	37	11	72289381	72289381	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	uc010rrc.2	-	29	2757	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_uc001oso.3_Silent_p.E816E|PDE2A_uc010rra.2_Silent_p.E830E|PDE2A_uc001osn.3_Silent_p.E581E|PDE2A_uc010rrb.2_Silent_p.E828E|PDE2A_uc010rrd.2_Silent_p.E722E	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGGCCTTCTCCTGCAGGC	0.582000														37			26		0	0	0.681144	0	0
SLC23A2	9962	broad.mit.edu	37	20	4850643	4850643	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	uc002wlg.1	-	11	1534	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_uc010zqr.1_Missense_Mutation_p.V272M|SLC23A2_uc002wlh.1_Missense_Mutation_p.V387M|SLC23A2_uc002wli.3_Missense_Mutation_p.V386M	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	387					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602000														46			27		0	0	0.693898	0	0
GPR55	9290	broad.mit.edu	37	2	231774733	231774733	+	Silent	SNP	C	T	T	rs146835586		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	uc021vxz.1	-	0	945	c.945G>A	c.(943-945)acG>acA	p.T315T	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.T315T|GPR55_uc010fxs.1_Silent_p.T315T	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	315					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552000														36			30		0	0	0.750413	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028985	141028985	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	uc003llk.3	-	4	403	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612000														137			68		0	0	0.870114	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														40			8		0	0	0.387290	0	0
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	T	T	rs149542398	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:33031888C>T	uc001rlj.4	-	1	417	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_uc001rlk.4_Missense_Mutation_p.R101H|PKP2_uc010skj.2_Missense_Mutation_p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378000														64			4		0	0	0.217242	0	0
PCDH12	51294	broad.mit.edu	37	5	141335542	141335542	+	Missense_Mutation	SNP	A	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	uc003llx.3	-	0	3086	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	625	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582000														15			9		0	0	0.335167	0	0
TMEM180	79847	broad.mit.edu	37	10	104233397	104233397	+	Silent	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	uc001kvt.3	+	7	1215	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_uc010qql.2_Silent_p.Y61Y|TMEM180_uc010qqm.1_Silent_p.Y181Y	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	332						integral to membrane		p.V331I(2)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637000														17			31		0	0	0.729181	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553886	53553886	+	Missense_Mutation	SNP	C	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	uc021onn.1	-	10	1823	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	SLC1A7_uc021onm.1_Silent_p.L427L|SLC1A7_uc001cux.3_Missense_Mutation_p.C146Y|SLC1A7_uc001cuy.3_Missense_Mutation_p.C493Y|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	493						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.I551I(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTGGTCTCGCAGGGCAGCAG	0.607000														11			5		0	0	0.184627	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724721	72724721	+	Splice_Site	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	uc004ahm.2	+	4	1122	c.505_splice	c.e4+1	p.E169_splice	MAMDC2_uc004ahn.2_Splice_Site	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	169	MAM 1.|MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368000														49			46		0	0	0.870114	0	0
HOXB5	3215	broad.mit.edu	37	17	46670842	46670842	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	uc002inr.3	-	0	262	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	68						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687000														14			4		0	0	0.248553	0	0
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	A	A	rs9333651		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	uc001gvv.3	-	10	1692	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582000														37			24		0	0	0.693898	0	0
FAM47B	170062	broad.mit.edu	37	X	34961315	34961315	+	Missense_Mutation	SNP	G	T	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	uc004ddi.2	+	0	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	123										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGTGGAAGCCCAGCTGAT	0.537000														18			28		6.04164e-23	6.36822e-23	0.750413	1	0
OR2AT4	341152	broad.mit.edu	37	11	74800020	74800020	+	Missense_Mutation	SNP	T	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	uc010rro.2	-	0	739	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567000														15			11		0	0	0.361761	0	0
GREB1	9687	broad.mit.edu	37	2	11725320	11725320	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	uc002rbk.1	+	7	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GREB1_uc002rbl.3_Missense_Mutation_p.R312H|GREB1_uc002rbn.1_Missense_Mutation_p.R312H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	312						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)		CCCAAAAAACGCCACAAAGGG	0.512000														11			14		0	0	0.435327	0	0
ODZ2	57451	broad.mit.edu	37	5	167671581	167671581	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:167671581G>A	uc010jjd.3	+	25	5650	c.5650G>A	c.(5650-5652)Gtg>Atg	p.V1884M	ODZ2_uc003lzr.4_Missense_Mutation_p.V1654M|ODZ2_uc003lzt.4_Missense_Mutation_p.V1257M|ODZ2_uc010jje.3_Missense_Mutation_p.V1148M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.V1893M(1)|p.V1772M(1)|p.V1726M(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCTGTCAACGTGTCATACTT	0.597000														33			26		0	0	0.706142	0	0
CENPA	1058	broad.mit.edu	37	2	27016113	27016113	+	Missense_Mutation	SNP	G	A	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	uc002rhr.3	+	3	572	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_uc002rhs.3_Missense_Mutation_p.R104Q|CENPA_uc002rht.3_Non-coding_Transcript	NM_001809	NP_001800	P49450	CENPA_HUMAN	Homo sapiens centromere protein A (CENPA), transcript variant 1, mRNA.	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	DNA binding|chromatin binding|protein binding	p.R130R(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552000														113			60		0	0	0.870114	0	0
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	4	---	---	2	---					
