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
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														11			9		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655044	110655044	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655044G>A	uc010mcp.3	-	2	504	c.142C>T	c.(142-144)Cct>Tct	p.P48S	SYBU_uc003yni.4_Missense_Mutation_p.P45S|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Missense_Mutation_p.P48S|SYBU_uc010mco.3_Missense_Mutation_p.P47S|SYBU_uc003ynl.4_Missense_Mutation_p.P47S|SYBU_uc010mcq.3_Missense_Mutation_p.P48S|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Missense_Mutation_p.P48S|SYBU_uc003ynm.4_Missense_Mutation_p.P47S|SYBU_uc003ynn.4_Missense_Mutation_p.P47S|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Missense_Mutation_p.P48S|SYBU_uc010mcu.3_Missense_Mutation_p.P47S|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Missense_Mutation_p.P48S|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	48	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGAGAAAGGAGACTCAGAG	0.552000														89			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926204	106926204	+	RNA	SNP	T	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:106926204T>A	uc021ser.1	-	325		c.11664A>T								Parts of antibodies, mostly variable regions.																		TGCACAGTAATACAAGGCGGT	0.532000														204			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:22663086T>G	uc021wml.1	+	30		c.2444T>G			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCT	0.299000														29			4		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026583	153026583	+	Missense_Mutation	SNP	G	A	A	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	uc011dcy.2	+	2	373	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	GRIA1_uc003lva.4_Missense_Mutation_p.V106I|GRIA1_uc003luy.4_Missense_Mutation_p.V106I|GRIA1_uc003luz.4_Missense_Mutation_p.V11I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.V37I|GRIA1_uc011dcz.2_Missense_Mutation_p.V116I|GRIA1_uc010jia.1_Missense_Mutation_p.V86I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	106					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)	GGCCCTCCACGTCTGCTTCAT	0.502000														107			13		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510502	5510502	+	Missense_Mutation	SNP	G	C	C	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	uc010qzg.2	+	0	588	c.566G>C	c.(565-567)cGa>cCa	p.R189P	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGCCCGACTGGCCTGT	0.522000														86			78		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	Missense_Mutation	SNP	T	C	C	rs147293416	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr7:72658179T>C	uc003txs.1	-	12	1733	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cagagtgatttcggatgaatt	0.507000														54			5		0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765101	40765101	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	uc003jmb.3	-	7	1112	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	PRKAA1_uc003jmc.3_Missense_Mutation_p.A354V	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	354					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGGCTTGTCGCCAAATAGAA	0.438000														58			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277704	113277704	+	Silent	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	uc003ynu.3	-	59	9783	c.9624T>C	c.(9622-9624)aaT>aaC	p.N3208N	CSMD3_uc003yns.3_Silent_p.N2410N|CSMD3_uc003ynt.3_Silent_p.N3168N|CSMD3_uc011lhx.2_Silent_p.N3039N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3208	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGGAGCCATTCAATTCCA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				113			9		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363146	22363146	+	Silent	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	uc001mqk.3	+	1	572	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	53					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGAGGTGCCCGAGAGGAAGG	0.642000														37			4		0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:23967157A>G	uc002wts.3	-	1	225	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_uc002wtu.3_Missense_Mutation_p.M31T|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	31							gamma-glutamyltransferase activity	p.M31T(9)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000														41			4		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186105910	186105910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	uc001grq.1	+	86	13652	c.13423C>T	c.(13423-13425)Cgt>Tgt	p.R4475C	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R44C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4475H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACATGGTCCCGTCAAGGGCA	0.428000														55			66		0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29771597	29771597	+	RNA	SNP	A	C	C	rs850084	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr7:29771597A>C	uc003tai.3	+	8		c.673A>C								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		CTACAATGGCAAGCGTGAAGC	0.398000														62			4		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														3			4		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836453	68836453	+	Missense_Mutation	SNP	C	T	T	rs41539891		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	uc004dxs.3	+	0	543	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	EDA_uc011mpj.2_Missense_Mutation_p.P101S|EDA_uc004dxr.3_Missense_Mutation_p.P101S|EDA_uc004dxm.1_Missense_Mutation_p.P101S|EDA_uc004dxn.1_Missense_Mutation_p.P101S|EDA_uc004dxp.1_Missense_Mutation_p.P101S|EDA_uc004dxq.1_Missense_Mutation_p.P101S	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCTGACAGCCCCATCACCAG	0.677000														9			26		0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148716409	148716409	+	Silent	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:148716409G>A	uc002twj.3	-	4	422	c.252C>T	c.(250-252)ctC>ctT	p.L84L	ORC4_uc021vqr.1_Silent_p.L84L|ORC4_uc002twi.3_Silent_p.L84L|ORC4_uc010zbo.2_Silent_p.L10L|ORC4_uc010zbq.2_5'UTR|ORC4_uc010zbp.2_Intron|ORC4_uc002twk.3_Silent_p.L84L|ORC4_uc010zbr.2_Silent_p.L84L	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	84					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTATTTCCATGAGTTCTTTCA	0.264000														18			17		0	0	1	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	T	T	rs71661951		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:143744418C>T	uc001ejp.3	-	0		c.170G>A			LOC100286793_uc001ejr.4_Non-coding_Transcript|LOC100286793_uc009whx.2_Non-coding_Transcript|LOC100286793_uc009why.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100286793 (LOC100286793), non-coding RNA.																		CAAGTGGTTTCGGAAGTGATC	0.567000														16			3		0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72541755	72541755	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:72541755G>A	uc010qjm.1	-	3	469	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	C10orf27_uc001jrj.1_Missense_Mutation_p.R27C|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.R27C|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.R16C|C10orf27_uc009xqj.1_Missense_Mutation_p.R16C|C10orf27_uc010qjp.1_Missense_Mutation_p.R16C	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						CTTGGCTTGCGCCCTGACTTC	0.587000														52			34		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19641635	19641635	+	Splice_Site	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	uc002gwk.3	-	8	1961	c.1698_splice	c.e8+1	p.K566_splice	ALDH3A1_uc010cqu.3_Splice_Site_p.K449_splice|ALDH3A1_uc010vzd.2_Splice_Site_p.K449_splice|ALDH3A1_uc002gwj.3_Splice_Site_p.K449_splice|ALDH3A1_uc010cqv.3_Splice_Site_p.K448_splice			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	449					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632000														61			4		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707865	6707865	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	uc002mfm.3	-	14	1983	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	641					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682000														38			21		0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349374	226349374	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	uc001hpy.3	-	3	633	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	196	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.458000														11			14		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351193	10351193	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	uc002gmn.3	-	33	5018	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1636					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCGGTTGGCATGGTTCAG	0.453000														127			78		1.25742e-37	1.2816e-37	1	1	0
DBR1	51163	broad.mit.edu	37	3	137882319	137882319	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	uc003erv.3	-	6	967	c.813T>G	c.(811-813)caT>caG	p.H271Q	DBR1_uc003eru.3_Missense_Mutation_p.H220Q|DBR1_uc003ert.3_Missense_Mutation_p.H39Q	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	271						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACTGGGGTCATGTTCTATCT	0.323000														45			4		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354504	98354504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	uc002syd.1	+	12	1877	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ZAP70_uc002sye.1_Missense_Mutation_p.R447Q|ZAP70_uc002syf.1_Missense_Mutation_p.R250Q	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	557	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGGCAAGCGGATGGAGTGC	0.607000														4			3		0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987919	182987919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	uc003flm.3	+	1	856	c.333G>A	c.(331-333)tgG>tgA	p.W111*	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Nonsense_Mutation_p.W111*|B3GNT5_uc003fll.3_Nonsense_Mutation_p.W111*|B3GNT5_uc021xic.1_Nonsense_Mutation_p.W111*	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.T110T(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428000														64			26		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275443	58275443	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	uc010rki.2	-	0	136	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478000														67			7		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75834890	75834890	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	uc021zbv.1	-	38	6595	c.6560A>G	c.(6559-6561)cAa>cGa	p.Q2187R	COL12A1_uc021zbw.1_Missense_Mutation_p.Q1023R|COL12A1_uc003phs.3_Missense_Mutation_p.Q2187R|COL12A1_uc003pht.3_Missense_Mutation_p.Q1023R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2187	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAATCATATTGAGCATAAAC	0.413000														28			19		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				9			33		0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085416	10085416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	uc004csx.4	+	10	1515	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	WWC3_uc010nds.3_Missense_Mutation_p.Q103H|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	439	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCACAAGCAGAGGCGGTCCC	0.672000														32			12		7.03913e-09	7.03913e-09	1	1	0
CHST1	8534	broad.mit.edu	37	11	45671624	45671624	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	uc021qgn.1	-	0	850	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	CHST1_uc001mys.2_Missense_Mutation_p.S284P	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	284					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622000														61			7		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987039	36987039	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	uc001wtu.3	-	2	746	c.650C>T	c.(649-651)tCg>tTg	p.S217L	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.S187L|NKX2-1_uc001wtv.3_Missense_Mutation_p.S187L|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	187					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCCGGCGCCGACAGGTACTT	0.657000			A		NSCLC									16			3		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	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									41			23		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102142925	102142925	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	uc001tit.3	-	19	3839	c.3647T>C	c.(3646-3648)cTa>cCa	p.L1216P		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	1216					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATGTTGCTAGTACACAATG	0.338000														97			34		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000														19			5		0	0	1	0	0
MIR133B	442890	broad.mit.edu	37	6	52013825	52013825	+	RNA	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:52013825C>T	uc010jzo.3	+	0		c.105C>T								Homo sapiens microRNA 133b (MIR133B), microRNA.																		GCTGGCAATGCCCAGTCCTTG	0.458000														27			7		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443697	158443697	+	Splice_Site	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	uc002tzk.4	-	2	547	c.304_splice	c.e2+1	p.A102_splice	ACVR1C_uc002tzl.4_Splice_Site_p.G102_splice|ACVR1C_uc010fof.3_Splice_Site_p.D102_splice|ACVR1C_uc010foe.3_Splice_Site_p.A52_splice	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	102					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAAACCCCTTACCTGTTGGAA	0.348000														112			8		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961128	133961128	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	uc003ytw.3	+	26	5382	c.5341A>T	c.(5341-5343)Aca>Tca	p.T1781S	TG_uc010mdw.3_Missense_Mutation_p.T540S|TG_uc011ljb.2_Missense_Mutation_p.T150S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1781					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGTGTGACATATGACCA	0.468000														173			24		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														33			6		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508437	49508437	+	Silent	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	uc002xvt.1	-	4	3159	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	ADNP_uc002xvu.1_Silent_p.T938T	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAAATGAATAGTTTCGTATT	0.423000														165			13		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608555	608555	+	Silent	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	uc001lqe.3	+	13	3230	c.3099G>A	c.(3097-3099)gcG>gcA	p.A1033A	PHRF1_uc010qwc.2_Silent_p.A1032A|PHRF1_uc010qwd.2_Silent_p.A1031A|PHRF1_uc010qwe.2_Silent_p.A1029A|PHRF1_uc009ybz.1_Silent_p.A823A|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1033	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGAGGTCAGCGTCACCATCAG	0.662000														18			8		0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900075	34900075	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	uc002nvj.3	+	3	379	c.346A>G	c.(346-348)Aac>Gac	p.N116D		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	116						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522000														53			30		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655043	110655043	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043G>A	uc010mcp.3	-	2	505	c.143C>T	c.(142-144)cCt>cTt	p.P48L	SYBU_uc003yni.4_Missense_Mutation_p.P45L|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Missense_Mutation_p.P48L|SYBU_uc010mco.3_Missense_Mutation_p.P47L|SYBU_uc003ynl.4_Missense_Mutation_p.P47L|SYBU_uc010mcq.3_Missense_Mutation_p.P48L|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Missense_Mutation_p.P48L|SYBU_uc003ynm.4_Missense_Mutation_p.P47L|SYBU_uc003ynn.4_Missense_Mutation_p.P47L|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Missense_Mutation_p.P48L|SYBU_uc010mcu.3_Missense_Mutation_p.P47L|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Missense_Mutation_p.P48L|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	48	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCAGAGAAAGGAGACTCAGA	0.552000														88			5		0	0	1	0	0
JA425978	0	broad.mit.edu	37	17	76154382	76154382	+	Splice_Site	DEL	T	-	-	rs6501181	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:76154382delT	uc021ueb.1	+	1		c.21_splice	c.e1+1		C17orf99_uc002jus.4_Intron|C17orf99_uc010wts.1_5'Flank					Sequence 5 from Patent EP2265717.																		CTCCTACACAttttttttttt	0.607													---	5	---	---	3	---					
TXNRD2	10587	broad.mit.edu	37	22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	uc021wlj.1	-	0	39_40	c.6_7delGG	c.(4-9)gcggcafs	p.A2fs	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Frame_Shift_Del_p.A2fs|TXNRD2_uc010grv.1_Frame_Shift_Del_p.A2fs|COMT_uc002zqu.3_5'UTR	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	2					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.797													---	4	---	---	2	---					
ATRX	546	broad.mit.edu	37	X	76939957	76939957	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	uc004ecp.4	-	8	1023	c.791delA	c.(790-792)tatfs	p.Y264fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Y226fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Y49fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Y225fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Y264fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Y209fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	264	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.W263*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATGTAGCAATACCATTGGTT	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	58	---	---	121	---					
