Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GIGYF1	64599	broad.mit.edu	37	7	100280314	100280314	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	ENST00000275732.5	-	20	3708	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697000													5	16					0	0	0.00198382	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976601	47976601	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:47976601A>T	ENST00000543600.1	-	2	664	c.625T>A	c.(625-627)Ttt>Att	p.F209I	PTCHD4_ENST00000339488.4_Missense_Mutation_p.F226I			Q6ZW05	CF138_HUMAN	patched domain containing 4	226						integral to membrane	hedgehog receptor activity										GTCTTATGAAAGTCCCTCCAG	0.527000													18	35					0	0	0.00074312	0	0
MMP1	4312	broad.mit.edu	37	11	102666337	102666337	+	Splice_Site	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	ENST00000315274.6	-	5	694	c.625_splice	c.e5-1	p.E209_splice	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	209	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAAGTTGTACTCTAAAAAGG	0.368000													11	29					0	0	0.000673444	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			27	3					0	0	0.00127121	0	0
SLC6A11	6538	broad.mit.edu	37	3	10885932	10885932	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	ENST00000254488.2	+	5	723	c.657G>C	c.(655-657)gaG>gaC	p.E219D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	219					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACGGGATCGAGCACATCGGGA	0.587000													3	41					0	0	0.00024832	0	0
FAM78A	286336	broad.mit.edu	37	9	134136482	134136482	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	ENST00000372271.3	-	2	946	c.579G>A	c.(577-579)ctG>ctA	p.L193L	FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617000													27	44					0	0	0.00127121	0	0
RP11-162P23.2	0	broad.mit.edu	37	12	112193513	112193513	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	ENST00000546840.2	+	2	68	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ACAD10_ENST00000455480.2_Silent_p.P1032P|ACAD10_ENST00000313698.4_Silent_p.P1001P																							TGGTCGCCCCGTCCATGGCCT	0.517000													16	112					0	0	0.00074312	0	0
KIAA1009	22832	broad.mit.edu	37	6	84896105	84896105	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	ENST00000403245.3	-	12	1460	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	449					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATTTTTTTCCTCAAAATATT	0.308000													24	56					9.95505e-16	3.13339e-15	0.00229938	1	0
RPS4Y2	140032	broad.mit.edu	37	Y	22930744	22930744	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	ENST00000288666.5	+	5	414	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	138					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GAATTCCACACCTGGTGACTC	0.438000													22	25					2.89027e-11	8.80844e-11	0.00229938	1	0
SCAND3	114821	broad.mit.edu	37	6	28540794	28540794	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	ENST00000452236.2	-	4	3489	c.2872T>C	c.(2872-2874)Tgt>Cgt	p.C958R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	958					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tccaaaccacatttgttaaca	0.353000													9	45					0	0	0.000274275	0	0
OR5D16	390144	broad.mit.edu	37	11	55606760	55606760	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	ENST00000378396.1	+	1	533	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACAATCAATCATTTCTTCTGT	0.423000													5	52					0	0	0.000602214	0	0
GPR39	2863	broad.mit.edu	37	2	133175296	133175296	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	ENST00000329321.3	+	1	1150	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCGGCGCCTTCGTGGTCT	0.612000													30	46					0	0	0.001512	0	0
ELMOD3	84173	broad.mit.edu	37	2	85617291	85617291	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567000													23	40					0	0	0.000720815	0	0
MAN2B2	23324	broad.mit.edu	37	4	6612960	6612960	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	ENST00000285599.3	+	15	2554	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	MAN2B2_ENST00000504248.1_Silent_p.L789L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	840					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGGAGCGCACTGGCGCTGCA	0.627000													15	21					0	0	0.00316338	0	0
PALD1	27143	broad.mit.edu	37	10	72307126	72307126	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr10:72307126C>T	ENST00000263563.6	+	18	2454	c.2186C>T	c.(2185-2187)gCg>gTg	p.A729V		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GTGGACGCAGCGCTGGACACT	0.617000													29	53					0	0	0.00127121	0	0
ZNF259	8882	broad.mit.edu	37	11	116656309	116656309	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	ENST00000227322.3	-	6	685	c.626A>G	c.(625-627)cAt>cGt	p.H209R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	209					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458000													6	97					0	0	0.00116845	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17961457	17961457	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	ENST00000361221.3	+	18	2032	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	625					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAAGGACAATGTGCTCATCCA	0.642000													3	43					0	0	0.00024832	0	0
GPX2	2877	broad.mit.edu	37	14	65406296	65406296	+	Silent	SNP	C	C	T	rs17885748		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	ENST00000389614.5	-	2	569	c.483G>A	c.(481-483)ccG>ccA	p.P161P	CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	161					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537000													22	103					0	0	0.00229938	0	0
KIF2B	84643	broad.mit.edu	37	17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547000													8	85					0	0	0.000442599	0	0
FRY	10129	broad.mit.edu	37	13	32852686	32852686	+	Splice_Site	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	ENST00000380250.3	+	58	8965		c.e58+1		FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAAGAAAAGGTAATAAAAGC	0.443000													16	95					0	0	0.000566183	0	0
CDK14	5218	broad.mit.edu	37	7	90613505	90613505	+	Silent	SNP	T	T	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	ENST00000406263.1	+	9	1294	c.852T>A	c.(850-852)gcT>gcA	p.A284A	CDK14_ENST00000380050.3_Silent_p.A330A|CDK14_ENST00000436577.2_Silent_p.A201A|CDK14_ENST00000265741.3_Silent_p.A312A			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	330	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGAGTTGCTGCTTTTCCAG	0.348000													38	100					0	0	0.00148497	0	0
CCDC108	255101	broad.mit.edu	37	2	219868814	219868814	+	Silent	SNP	C	C	T	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	ENST00000341552.5	-	33	5498	c.5415G>A	c.(5413-5415)aaG>aaA	p.K1805K	CCDC108_ENST00000453220.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.K1805K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1805	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTctcttccttctcatccc	0.557000													5	121					0	0	0.000602214	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								19	53					0	0	0.00229938	0	0
OR2M7	391196	broad.mit.edu	37	1	248487368	248487368	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	ENST00000317965.2	-	1	531	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGACCCACAGTAGGAGAAGGA	0.448000													108	174					0	0	0.00361006	0	0
MYO18A	399687	broad.mit.edu	37	17	27430667	27430667	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	ENST00000527372.1	-	21	3637	c.3457C>G	c.(3457-3459)Ctg>Gtg	p.L1153V	MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1153	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGCACTCCAGCAGCTCCTCC	0.667000													3	44					0	0	6.4e-05	0	0
TANK	10010	broad.mit.edu	37	2	162087893	162087893	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	ENST00000392749.2	+	7	1171	c.932C>T	c.(931-933)cCc>cTc	p.P311L	TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.P311L|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	311						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAAACAAAGCCCTCAAATCTC	0.383000													9	106					0	0	0.000673444	0	0
HSDL1	83693	broad.mit.edu	37	16	84163854	84163854	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	ENST00000219439.4	-	4	579	c.403C>T	c.(403-405)Cca>Tca	p.P135S	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	135						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473000													16	141					0	0	0.00400662	0	0
AC005609.1	0	broad.mit.edu	37	5	140242897	140242897	+	Missense_Mutation	SNP	T	T	G	rs116577362	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:140242897T>G	ENST00000502505.1	-	1	327	c.79A>C	c.(79-81)Acc>Ccc	p.T27P	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA14_ENST00000562220.1_RNA																							ATCTGCGTGGTGTCCAGCCTG	0.647000													4	63					0	0	0.000602214	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716801	13716801	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	ENST00000279593.3	-	13	3580	c.3371G>A	c.(3370-3372)aGg>aAg	p.R1124K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1124					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCTTGTCCCTGAAGTAGCG	0.617000													20	25					0	0	0.00152264	0	0
NELL1	4745	broad.mit.edu	37	11	21135210	21135210	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	ENST00000298925.5	+	14	1613	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NELL1_ENST00000357134.5_Missense_Mutation_p.R459H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000325319.5_Missense_Mutation_p.R402H			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398000													6	99					0	0	0.00116845	0	0
S1PR1	1901	broad.mit.edu	37	1	101705575	101705575	+	Silent	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	ENST00000305352.6	+	2	1410	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	345					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GACCCATCATCGCCGGCATGG	0.557000													7	154					0	0	0.00198382	0	0
AL645608.1	0	broad.mit.edu	37	1	861308	861308	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:861308G>C	ENST00000598827.1	-	6	291	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	SAMD11_ENST00000342066.3_5'UTR																							GCAGGGAAAAGTCTGAAGACG	0.662000													11	49					0	0	0.000978159	0	0
APRT	353	broad.mit.edu	37	16	88876924	88876924	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637000													3	22					0	0	6.4e-05	0	0
FRMD7	90167	broad.mit.edu	37	X	131214037	131214037	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	ENST00000298542.4	-	11	1222	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	FRMD7_ENST00000464296.1_Silent_p.K334K|FRMD7_ENST00000370879.1_Silent_p.K229K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.398000													78	27					0	0	0.00361006	0	0
XKR9	389668	broad.mit.edu	37	8	71646066	71646066	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	ENST00000408926.3	+	5	1063	c.529T>C	c.(529-531)Tgg>Cgg	p.W177R	XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	177						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTATTTCTTGGTCAACTGT	0.299000													5	47					0	0	0.00116845	0	0
COL25A1	84570	broad.mit.edu	37	4	109805344	109805344	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	ENST00000399132.1	-	19	1540	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	337	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTATCCCCGGAAGTCCAGG	0.413000													21	43					0	0	0.00278032	0	0
KLKB1	3818	broad.mit.edu	37	4	187158067	187158067	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	ENST00000264690.6	+	5	648	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	154	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408000													5	58					0	0	0.00198382	0	0
LAMP2	0	broad.mit.edu	37	X	119573053	119573053	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:119573053C>T	ENST00000371335.4	-	9	1325	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	397					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.V397I(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGCCAATTACGTAAGCAATC	0.383000													5	57					0	0	0.000602214	0	0
KRT84	3890	broad.mit.edu	37	12	52777394	52777394	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	ENST00000257951.3	-	2	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577000													15	17					0	0	0.00074312	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	86					0	0	0.000602214	0	0
SDAD1P1	0	broad.mit.edu	37	8	26237249	26237249	+	RNA	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:26237249G>A	ENST00000519902.1	-	0	2699																											GGGATTTCCCGGGGACAGCGT	0.458000													6	43					0	0	0.00116845	0	0
RAB27A	5873	broad.mit.edu	37	15	55497820	55497820	+	Missense_Mutation	SNP	C	C	T	rs141362723	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	ENST00000396307.2	-	6	802	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	184					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463000													63	77					0	0	0.00361006	0	0
ADAM21	8747	broad.mit.edu	37	14	70924812	70924812	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:70924812C>T	ENST00000603540.1	+	2	854	c.596C>T	c.(595-597)tCt>tTt	p.S199F	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	199					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACCAAAATCTGCTGGTGAC	0.448000													4	104					0	0	0.000602214	0	0
PHF23	79142	broad.mit.edu	37	17	7139547	7139547	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	ENST00000320316.3	-	4	925	c.699A>G	c.(697-699)ccA>ccG	p.P233P	PHF23_ENST00000576955.1_Silent_p.P103P|PHF23_ENST00000571362.1_Silent_p.P166P|PHF23_ENST00000454255.2_Silent_p.P229P	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	233							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCCAGGAGGTGGGAGTCTAT	0.552000													39	76					0	0	0.0025221	0	0
OR4A15	81328	broad.mit.edu	37	11	55136122	55136122	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	ENST00000314706.3	+	1	763	c.763A>T	c.(763-765)Act>Tct	p.T255S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCTCTTAAGACTCAGAGTTT	0.438000													62	74					0	0	0.00361006	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													4	42					0	0	0.00024832	0	0
CDH17	1015	broad.mit.edu	37	8	95182644	95182644	+	Silent	SNP	G	G	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	ENST00000027335.3	-	9	1171	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	349	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTCTCCTGGACCTCAAATA	0.438000													60	86					0	0	0.00361006	0	0
TPTE2P6	0	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	44					0	0	6.4e-05	0	0
SLIT2	9353	broad.mit.edu	37	4	20598163	20598163	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	ENST00000504154.1	+	32	3698	c.3446C>T	c.(3445-3447)cCt>cTt	p.P1149L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1149	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGTGTTTGCCTGGCTATCAG	0.433000													4	66					0	0	0.00024832	0	0
NPAS4	266743	broad.mit.edu	37	11	66192121	66192121	+	Missense_Mutation	SNP	C	C	T	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	ENST00000311034.2	+	7	1936	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGACTGCACGCTCTTGGCC	0.607000													15	173					0	0	0.00316338	0	0
CEACAM4	1089	broad.mit.edu	37	19	42128032	42128032	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:42128032C>A	ENST00000221954.2	-	3	644	c.534G>T	c.(532-534)agG>agT	p.R178S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	178						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ACCTTCCAGTCCTGGAGAGAA	0.652000													7	27					0.00307968	0.0090969	0.00307968	1	0
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507000													12	83					0	0	0.00136819	0	0
OR2M5	127059	broad.mit.edu	37	1	248308952	248308952	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	ENST00000366476.1	+	1	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443000													12	318					0	0	0.00185496	0	0
USH2A	7399	broad.mit.edu	37	1	215914869	215914869	+	Silent	SNP	T	T	C			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	ENST00000366943.2	-	60	11945	c.11559A>G	c.(11557-11559)ggA>ggG	p.G3853G	USH2A_ENST00000307340.3_Silent_p.G3853G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3853	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCTAACTCCACAACTTC	0.358000										HNSCC(13;0.011)			7	63					0	0	0.000442599	0	0
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tcfs	p.S519fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								25	245	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	TC	-	rs144088344	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	ENST00000367409.4	-	18	8038_8039	c.7782_7783delGA	c.(7780-7785)caaafs	p.QK2594fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2594					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2594Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAATACTTTCTGTTTCTTTT	0.356													12	33	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	RNA	INS	-	-	AA	rs71401156		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:217475031_217475032insAA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376													5	5	---	---	---	---					
AMOTL2	51421	broad.mit.edu	37	3	134078153	134078155	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	ENST00000514516.1	-	8	2426_2428	c.2248_2250delACA	c.(2248-2250)del	p.T750del	AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|AMOTL2_ENST00000422605.2_In_Frame_Del_p.T692del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	692										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCGTCTGCTGTTTGTCGCTCA	0.596													21	67	---	---	---	---					
TNIP1	10318	broad.mit.edu	37	5	150425452	150425454	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	ENST00000389378.2	-	9	1492_1494	c.904_906delAAG	c.(904-906)del	p.K302del	TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	302	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601													14	96	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896099	84896100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	ENST00000403245.3	-	12	1465_1466	c.1351_1352insT	c.(1351-1353)aatfs	p.N451fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.N375fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	451					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAGTTATTTTTTTCCTCAAA	0.307													19	54	---	---	---	---					
CYP3A7	1551	broad.mit.edu	37	7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	ENST00000336374.2	-	8	754_755	c.752_753delAA	c.(751-753)afs	p.K251fs		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	251					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTTTTACAGATTTTGTTAGAAA	0.312													19	90	---	---	---	---					
RMDN1	51115	broad.mit.edu	37	8	87498754	87498755	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:87498754_87498755delTT	ENST00000406452.3	-	4	612_613	c.453_454delAA	c.(451-456)aagafs	p.KR151fs	RMDN1_ENST00000430676.2_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000519966.1_Frame_Shift_Del_p.KR151fs|RMDN1_ENST00000523911.1_Frame_Shift_Del_p.KR107fs|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TCTAGTGCTCTTTTTGCATACT	0.396													7	60	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	ENST00000259569.5	-	1	2516_2517	c.2506_2507delCT	c.(2506-2508)gfs	p.L836fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	836					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337													24	99	---	---	---	---					
UHRF2	115426	broad.mit.edu	37	9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	ENST00000276893.5	+	11	1850_1853	c.1682_1685delCAGT	c.(1681-1686)ccfs	p.PV561fs	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	561	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426													16	43	---	---	---	---					
BTBD1	53339	broad.mit.edu	37	15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	ENST00000261721.4	-	3	796_797	c.594_595delTT	c.(592-597)ctgtfs	p.LC198fs	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Frame_Shift_Del_p.LC198fs	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	198						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312													9	51	---	---	---	---					
UBE2Q2P1	0	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													5	8	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													9	70	---	---	---	---					
AKAP8	10270	broad.mit.edu	37	19	15471767	15471769	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	ENST00000269701.2	-	12	1477_1479	c.1417_1419delTTC	c.(1417-1419)del	p.F473del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	473					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGATCTTCTTGAAGAAGTGCTCC	0.571													10	21	---	---	---	---					
LENG9	94059	broad.mit.edu	37	19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	ENST00000333834.4	-	1	1433_1434	c.1315_1316delCA	c.(1315-1317)gfs	p.Q439fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644													44	54	---	---	---	---					
EPB41L1	2036	broad.mit.edu	37	20	34761743	34761745	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	ENST00000338074.2	+	2	205_207	c.44_46delAGG	c.(43-48)cag>c	p.QE15del	EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_In_Frame_Del_p.QE15del|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	15					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626													7	38	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													5	3	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41088882	41088884	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	ENST00000324545.7	+	43	7914_7916	c.7281_7283delAAG	c.(7279-7284)gaa>ga	p.ER2427del	USP9X_ENST00000378308.2_In_Frame_Del_p.ER2427del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2427					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAACTTGAAAGAAGACCATAT	0.404													15	35	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918976	76918977	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	ENST00000373344.5	-	12	4228_4229	c.4014_4015delTA	c.(4012-4017)caggfs	p.HR1338fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1338					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|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)	CGCAAAAGCCTATGTCTGTATC	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	5	---	---	---	---					
