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
C12orf32	83695	broad.mit.edu	37	12	2994612	2994612	+	Missense_Mutation	SNP	A	G	G	rs142328102	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr12:2994612A>G	uc001qlh.3	+	1	248	c.80A>G	c.(79-81)aAa>aGa	p.K27R	TULP3_uc010sef.1_Intron|C12orf32_uc010see.2_Missense_Mutation_p.K27R|C12orf32_uc001qli.3_Intron	NM_001252499	NP_001239428			Homo sapiens chromosome 12 open reading frame 32 (C12orf32), transcript variant 1, mRNA.											endometrium(1)|kidney(1)|lung(3)	5			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GAGGGCCCCAAACACAGCTGT	0.577000														42			3		0	0	0.004672	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625370	19625370	+	RNA	SNP	A	G	G	rs7994268	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:19625370A>G	uc001umb.1	-	7		c.3153T>C								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TGTCCTTCACACAGATCAGGC	0.567000														22			3		0	0	0.004672	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24234628	24234628	+	Splice_Site	SNP	C	T	T	rs138676880	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:24234628C>T	uc001uov.2	+	7	940	c.736_splice	c.e7+1	p.G246_splice	TNFRSF19_uc001uot.3_Splice_Site_p.G246_splice|TNFRSF19_uc010tcu.2_Splice_Site_p.G114_splice|TNFRSF19_uc001uow.3_Splice_Site_p.G246_splice	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	246					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCAGACCTGCGGTAAGTTCA	0.557000														20			5		0	0	0.014758	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538569	27538569	+	Missense_Mutation	SNP	G	A	A	rs11015624	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:27538569G>A	uc001its.2	-	0	2667	c.824C>T	c.(823-825)cCt>cTt	p.P275L						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		CAGGTCCAAAGGTTGAACTGT	0.478000														250			13		0	0	0.020292	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188613	37188613	+	RNA	SNP	C	T	T	rs35008241	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:37188613C>T	uc002hrd.1	+	0		c.2455C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		TGTCGTGTATCGATCTCAGCC	0.512000														113			7		0	0	0.003080	0	0
GNG11	2791	broad.mit.edu	37	7	93555446	93555446	+	Missense_Mutation	SNP	G	A	A	rs138791795	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr7:93555446G>A	uc003und.3	+	1	574	c.140G>A	c.(139-141)cGt>cAt	p.R47H		NM_004126	NP_004117	P61952	GBG11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 11 (GNG11), mRNA.	47					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.R47C(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ATTGAAGAACGTTCTGGAGAG	0.343000														95			6		0	0	0.003080	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188240	37188240	+	RNA	SNP	C	T	T	rs34700711	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:37188240C>T	uc002hrd.1	+	0		c.2082C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		ACAGTTCAACCTCTGGACCTG	0.512000														78			6		0	0	0.021553	0	0
SSX5	6758	broad.mit.edu	37	X	48053571	48053571	+	Missense_Mutation	SNP	T	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:48053571T>A	uc004diz.1	-	4	450	c.397A>T	c.(397-399)Aat>Tat	p.N133Y	SSX5_uc004dja.1_Missense_Mutation_p.N92Y	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCACCCTGATTCCCACGGTTA	0.507000														89			20		0	0	0.007413	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123432	66123432	+	RNA	SNP	T	G	G	rs8064704	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:66123432T>G	uc002jgq.3	+	5		c.2555T>G								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TGGAATGTACTACTCGTTTAG	0.363000														19			3		0	0	0.004672	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242329	118242329	+	Missense_Mutation	SNP	C	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:118242329C>A	uc004era.4	-	5	883	c.883G>T	c.(883-885)Gtc>Ttc	p.V295F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	295										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAACCCAGACTGCACTTGTA	0.483000														77			40		6.99958e-10	7.65287e-10	0.027894	1	0
TRPC5	7224	broad.mit.edu	37	X	111155560	111155560	+	Silent	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:111155560G>A	uc004epl.1	-	2	1778	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	TRPC5_uc004epm.1_Silent_p.L287L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	287					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AACTTGGCCAGGTCATGGTAC	0.517000														117			6		0	0	0.021553	0	0
TBCE	6905	broad.mit.edu	37	1	235594049	235594049	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr1:235594049C>T	uc010pxr.1	+	6	713	c.590C>T	c.(589-591)tCa>tTa	p.S197L	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.S197L|TBCE_uc001hxa.1_Missense_Mutation_p.S197L|TBCE_uc001hxb.1_Missense_Mutation_p.S84L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	197					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CCCTCCGGTTCAGTATTAACT	0.328000														28			3		0	0	0.004672	0	0
RGPD4	285190	broad.mit.edu	37	2	108475958	108475958	+	Missense_Mutation	SNP	A	G	G	rs142985549	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:108475958A>G	uc010ywk.2	+	10	1664	c.1582A>G	c.(1582-1584)Aga>Gga	p.R528G	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	528					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGTACAGAAAGACAAAAATC	0.393000														283			10		0	0	0.006214	0	0
RGPD4	285190	broad.mit.edu	37	2	108496435	108496435	+	Missense_Mutation	SNP	T	A	A	rs832352		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:108496435T>A	uc010ywk.2	+	20	5018	c.4936T>A	c.(4936-4938)Tgg>Agg	p.W1646R	RGPD4_uc002tdu.3_Missense_Mutation_p.W833R|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1646					intracellular transport		binding	p.W1646R(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCCTCCATTATGGCATGCTGA	0.358000														92			5		0	0	0.021553	0	0
CLRN3	119467	broad.mit.edu	37	10	129676535	129676535	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:129676535C>T	uc001lka.1	-	2	722	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CLRN3_uc001ljz.1_Missense_Mutation_p.V119I	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	187						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468000														97			52		0	0	0.014410	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940204	82940204	+	Silent	SNP	G	A	A	rs141242336	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr5:82940204G>A	uc003kim.3	-	2	824	c.753C>T	c.(751-753)ttC>ttT	p.F251F	HAPLN1_uc003kin.3_Silent_p.F251F	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	251	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGTAAAACAGAAAACATCAT	0.413000														77			4		0	0	0.014758	0	0
FAM182B	728882	broad.mit.edu	37	20	25848617	25848617	+	RNA	SNP	A	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr20:25848617A>G	uc002wvd.1	-	0		c.170T>C								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						ggcaggcctgaggctgggatg	0.672000														2			2		0	0	0.004672	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127718	20127718	+	Missense_Mutation	SNP	G	A	A	rs150375510	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr22:20127718G>A	uc002zrr.2	+	4	745	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	ZDHHC8_uc002zrq.3_Missense_Mutation_p.R213Q|ZDHHC8_uc010gsa.3_Intron	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	213						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CTGGTCACTCGGGGGCGCACC	0.647000														26			3		0	0	0.004672	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000														48			4		0	0	0.009096	0	0
ACSM5	54988	broad.mit.edu	37	16	20432615	20432615	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:20432615A>G	uc002dhe.3	+	4	806	c.659A>G	c.(658-660)aAg>aGg	p.K220R		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	220					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGGACAAAGAGTCGAGAC	0.522000														25			17		0	0	0.004990	0	0
MYO1B	4430	broad.mit.edu	37	2	192234306	192234306	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:192234306C>G	uc010fsg.2	+	11	1326	c.1071C>G	c.(1069-1071)taC>taG	p.Y357*	MYO1B_uc002usq.2_Nonsense_Mutation_p.Y357*|MYO1B_uc002usr.2_Nonsense_Mutation_p.Y357*	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	357	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAACCTCTACAGCAGGTTGT	0.328000														36			11		0	0	0.013537	0	0
UGT2B7	7364	broad.mit.edu	37	4	69974040	69974040	+	Splice_Site	SNP	C	T	T	rs139693571	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr4:69974040C>T	uc003heg.4	+	5	1356	c.1310_splice	c.e5+1	p.S437_splice	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	437					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AATGATCCTTCGTGAGTAGAA	0.388000														95			5		0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> 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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)				10			23		0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179498807	179498807	+	Missense_Mutation	SNP	A	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:179498807A>T	uc021vsy.1	-	179	34940	c.34715T>A	c.(34714-34716)aTa>aAa	p.I11572K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I5267K|TTN_uc021vta.1_Missense_Mutation_p.I5200K|TTN_uc021vtb.1_Missense_Mutation_p.I5075K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12499	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTCTTATACCTGAAAT	0.368000														45			10		0	0	0.008291	0	0
EARS2	124454	broad.mit.edu	37	16	23536531	23536531	+	Missense_Mutation	SNP	C	T	T	rs75133940	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:23536531C>T	uc002dlu.3	-	7	1554	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	EARS2_uc002dlr.4_Intron|EARS2_uc002dls.4_Intron|EARS2_uc002dlt.4_Intron	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	atGAGGGGCTCCAGGGAACAA	0.488000														41			5		0	0	0.014758	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	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									42			23		0	0	0.016522	0	0
VWA2	340706	broad.mit.edu	37	10	116032596	116032596	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:116032596G>A	uc001lbl.1	+	5	790	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	VWA2_uc001lbk.1_Missense_Mutation_p.V157I|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	157	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTCATCATCGTCACTGATGG	0.567000														43			9		0	0	0.004482	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956151	45956151	+	Missense_Mutation	SNP	T	C	C			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr7:45956151T>C	uc003tnr.3	-	2	896	c.764A>G	c.(763-765)aAg>aGg	p.K255R	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Missense_Mutation_p.K249R|IGFBP3_uc003tnt.3_Missense_Mutation_p.K152R	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	249	Thyroglobulin type-1.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.K249M(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	ACTCACCTGCTTTTTCTTATA	0.478000														74			6		0	0	0.001984	0	0
LTF	4057	broad.mit.edu	37	3	46479431	46479431	+	Splice_Site	SNP	G	A	A	rs137886255		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:46479431G>A	uc003cpq.3	-	16	2339	c.2098_splice	c.e16+1	p.P700_splice	LTF_uc003fzr.3_Splice_Site_p.P656_splice|LTF_uc010hjh.3_Splice_Site_p.P698_splice|LTF_uc003cpr.3_Splice_Site_p.P687_splice	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	700					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.P700T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GTCTACTTACGGGAGGTTGAG	0.458000														163			15		0	0	0.006122	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081122	193081122	+	Missense_Mutation	SNP	G	T	T	rs12637558	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:193081122G>T	uc011bsq.2	-	2	287	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	96			S -> Y (in dbSNP:rs12637558).		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96F(2)|p.S96Y(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398000														75			4		0.00024832	0.000264445	0.009096	1	0
NAIP	4671	broad.mit.edu	37	5	70308329	70308329	+	Silent	SNP	G	A	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr5:70308329G>A	uc003kar.1	-	3	1132	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	138					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Y138Y(2)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483000														108			7		0	0	0.003080	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873158	37873158	+	Missense_Mutation	SNP	G	T	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:37873158G>T	uc021vfz.1	-	0	573	c.573C>A	c.(571-573)agC>agA	p.S191R	CDC42EP3_uc002rqi.1_Missense_Mutation_p.S191R	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	191					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GTTCGGACAGGCTGGAGGAGT	0.592000														43			14		3.27435e-08	3.53285e-08	0.020292	1	0
PTENP1	11191	broad.mit.edu	37	9	33675629	33675629	+	Missense_Mutation	SNP	A	C	C	rs7849845	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr9:33675629A>C	uc003zth.4	-	0	1790	c.919T>G	c.(919-921)Ttt>Gtt	p.F307V						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TTCACCTTAAAATTTGGAGAA	0.383000														116			5		0	0	0.014758	0	0
NLRC5	84166	broad.mit.edu	37	16	57075470	57075470	+	Missense_Mutation	SNP	G	A	A	rs148873682	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:57075470G>A	uc021tiu.1	+	16	3140	c.3013G>A	c.(3013-3015)Ggt>Agt	p.G1005S	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.G810S|NLRC5_uc021tiw.1_Missense_Mutation_p.G810S|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1005					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding	p.G1005S(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCCACCTCGGTCACCTCCA	0.532000														23			7		0	0	0.003080	0	0
HKR1	284459	broad.mit.edu	37	19	37835619	37835619	+	Silent	SNP	C	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:37835619C>G	uc002ogb.3	+	2	302	c.33C>G	c.(31-33)ctC>ctG	p.L11L	HKR1_uc002ofx.3_Intron|HKR1_uc002ofy.3_Intron|HKR1_uc002ofz.3_Intron|HKR1_uc002oga.3_Intron|HKR1_uc010xto.2_Intron|HKR1_uc002ogc.3_Intron|HKR1_uc010xtp.2_Intron|HKR1_uc002ogd.3_5'Flank	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACAATGCTCCCTACATGCA	0.443000														77			12		0	0	0.013537	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102175	102175	+	Missense_Mutation	SNP	C	G	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrGL000209.1:102175C>G	uc021vdb.1	+	2	121	c.110C>G	c.(109-111)cCc>cGc	p.P37R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.P37R	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	37			R -> P (in dbSNP:rs613240).		regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCCAGGTCCCCTGGTGAAA	0.488000														2			3		0	0	0.004672	0	0
LIPE	3991	broad.mit.edu	37	19	42906913	42906914	+	Frame_Shift_Ins	INS	-	G	G	rs7246232	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:42906913_42906914insG	uc002otr.3	-	8	3089_3090	c.2812_2813insC	c.(2812-2814)cgtfs	p.R938fs	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	938			R -> S (in dbSNP:rs7246232).		cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GAAGGCGGCACGGACGCCCAGG	0.604													---	19	---	---	11	---					
ATRX	546	broad.mit.edu	37	X	76938832	76938832	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:76938832delA	uc004ecp.4	-	8	2148	c.1916delT	c.(1915-1917)ttgfs	p.L639fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L601fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L424fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.L571fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.L610fs|ATRX_uc010nly.1_Frame_Shift_Del_p.L584fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	639					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.?(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)	ATTTTCAACCAAATGCTCATT	0.413			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	250	---	---	129	---					
