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
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(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)		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)			16	10					0	0	0.146539	0	0
C17orf76-AS1	0	broad.mit.edu	37	17	16342838	16342838	+	RNA	SNP	A	A	G	rs112304410		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:16342838A>G	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA	NR_027667.1																						GATACTTGTAATAGGAAGTGC	0.493000													37	96					0	0	0.092188	0	0
FAT4	79633	broad.mit.edu	37	4	126239920	126239920	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	ENST00000394329.3	+	1	2367	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	785	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTATTGGACACTCAAGAC	0.448000													14	100					0	0	0.105934	0	0
TSPEAR	54084	broad.mit.edu	37	21	45928792	45928792	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:45928792C>T	ENST00000397916.1	-	11	1711	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	TSPEAR-AS1_ENST00000451035.1_RNA|TSPEAR_ENST00000323084.4_Intron			Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	195					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCCTGCCTCCACTGCTCGG	0.652000													5	8					0	0	0.021553	0	0
MYH2	4620	broad.mit.edu	37	17	10440777	10440777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	ENST00000245503.5	-	16	2054	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	MYH2_ENST00000397183.2_Missense_Mutation_p.D557G|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.D557G|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	557	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTGCTGGTCATACAGCTT	0.527000													11	116					0	0	0.080935	0	0
PCDH19	57526	broad.mit.edu	37	X	99662028	99662028	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	ENST00000373034.4	-	1	3243	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H523R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H523R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTCTGCTCGTGGTTAAAGGA	0.582000													42	26					0	0	0.117977	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857730	101857730	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	ENST00000263468.8	+	9	3472	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K869E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1068							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328000													22	39					0	0	0.083992	0	0
ELP2	55250	broad.mit.edu	37	18	33739707	33739707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	ENST00000358232.6	+	15	1607	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ELP2_ENST00000542824.1_Missense_Mutation_p.A445V|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.A489V|ELP2_ENST00000423854.2_Missense_Mutation_p.A445V|ELP2_ENST00000350494.6_Missense_Mutation_p.A510V|ELP2_ENST00000442325.2_Missense_Mutation_p.A580V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	515					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGAGATATAGCTTCTCAGCCT	0.398000													6	72					0	0	0.029380	0	0
TPTE	7179	broad.mit.edu	37	21	10973723	10973723	+	Splice_Site	SNP	C	C	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	ENST00000298232.7	-	4	378	c.11_splice	c.e4+1	p.S4_splice	TPTE_ENST00000361285.4_Splice_Site_p.S4_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S4_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	4					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAACTCACCTTTCATTCAT	0.383000													12	84					0	0	0.033300	0	0
AP3B1	8546	broad.mit.edu	37	5	77473214	77473214	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	ENST00000255194.6	-	9	1164	c.989C>G	c.(988-990)tCt>tGt	p.S330C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S281C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	330					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338000									Hermansky-Pudlak syndrome				22	41					0	0	0.125774	0	0
RP11-119F19.2	0	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612000													3	15					0	0	0.014758	0	0
SSX1	6756	broad.mit.edu	37	X	48125816	48125816	+	Silent	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	ENST00000376919.3	+	7	697	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGAAGATGACGAGTAACTCC	0.488000			T	SS18	synovial sarcoma								7	97					0	0	0.029380	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532000													47	89					0	0	0.139131	0	0
KIAA1211	57482	broad.mit.edu	37	4	57193877	57193877	+	Silent	SNP	G	G	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	ENST00000504228.1	+	9	3714	c.3609G>A	c.(3607-3609)ccG>ccA	p.P1203P	KIAA1211_ENST00000264229.6_Silent_p.P1203P|KIAA1211_ENST00000541073.1_Silent_p.P1196P			Q6ZU35	K1211_HUMAN	KIAA1211	1203										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507000													53	110					0	0	0.139131	0	0
TRPC3	7222	broad.mit.edu	37	4	122853715	122853715	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	ENST00000264811.5	-	1	897	c.479A>T	c.(478-480)gAc>gTc	p.D160V	TRPC3_ENST00000513531.1_Missense_Mutation_p.D160V|TRPC3_ENST00000379645.3_Missense_Mutation_p.D233V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGGTGATGTCCGGCGAGAA	0.617000													20	34					0	0	0.055883	0	0
SPAM1	0	broad.mit.edu	37	7	123594310	123594310	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	ENST00000340011.5	+	3	1043	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229F|SPAM1_ENST00000439500.1_Missense_Mutation_p.Y229F|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229F|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	229					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.Y229C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACCATCACTATAAGAAACCC	0.388000													36	72					0	0	0.059317	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								27	40					0	0	0.108266	0	0
GDAP1	54332	broad.mit.edu	37	8	75274211	75274211	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	ENST00000220822.7	+	4	657	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.K125E	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	193	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358000													10	44					0	0	0.058154	0	0
CDC40	51362	broad.mit.edu	37	6	110533393	110533393	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr6:110533393G>T	ENST00000368932.1	+	8	886	c.785G>T	c.(784-786)gGt>gTt	p.G262V	CDC40_ENST00000368933.1_Missense_Mutation_p.G262V|CDC40_ENST00000307731.1_Missense_Mutation_p.G262V|CDC40_ENST00000368930.1_Missense_Mutation_p.G262V			O60508	PRP17_HUMAN	cell division cycle 40	262					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAGGATGTTGGTGTTAATCTA	0.378000													4	74					0.00116845	0.00192929	0.021553	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CTTGTGAATAGGGGGAAACAT	0.483000													9	199					0	0	0.093190	0	0
LRFN5	145581	broad.mit.edu	37	14	42356999	42356999	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	ENST00000554171.1	+	5	3603	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	LRFN5_ENST00000298119.4_Missense_Mutation_p.D391H|LRFN5_ENST00000554120.1_Missense_Mutation_p.D391H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	391						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388000										HNSCC(30;0.082)			12	56					0	0	0.080935	0	0
MIR323A	0	broad.mit.edu	37	14	101492098	101492098	+	RNA	SNP	G	G	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:101492098G>A	ENST00000362199.1	+	0	30					NR_029890.1																						GGTCCGTGGCGCGTTCGCTTT	0.537000													45	71					0	0	0.139131	0	0
FLRT3	23767	broad.mit.edu	37	20	14307457	14307457	+	Silent	SNP	C	C	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	ENST00000378053.3	-	2	952	c.696G>A	c.(694-696)ctG>ctA	p.L232L	FLRT3_ENST00000341420.4_Silent_p.L232L|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	232					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453000													18	46					0	0	0.033300	0	0
UNC45A	55898	broad.mit.edu	37	15	91491977	91491977	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	ENST00000394275.2	+	16	2621	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	UNC45A_ENST00000418476.2_Missense_Mutation_p.E611Q	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	611					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAAGATGGTGGAGCTGGCCAA	0.627000													3	11					0	0	0.009096	0	0
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Translation_Start_Site	SNP	A	A	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:77155051A>T	ENST00000481445.1	+	1	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443000													10	3					0	0	0.069234	0	0
SPICE1	152185	broad.mit.edu	37	3	113172505	113172505	+	Silent	SNP	C	C	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:113172505C>G	ENST00000295872.4	-	14	2209	c.1950G>C	c.(1948-1950)ctG>ctC	p.L650L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	650					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GCCCATCTCCCAGTACTGGGA	0.453000													30	71					0	0	0.144211	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													5	58					0	0	0.014758	0	0
ITIH4	3700	broad.mit.edu	37	3	52848085	52848085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	ENST00000266041.4	-	23	2725	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q847*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q861*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q882*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	877					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592000													9	15					0	0	0.069234	0	0
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs141887475	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647000													4	35					0	0	0.021553	0	0
MUSK	4593	broad.mit.edu	37	9	113547910	113547910	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	ENST00000416899.2	+	11	1792	c.1666A>G	c.(1666-1668)Aaa>Gaa	p.K556E	MUSK_ENST00000374448.4_Missense_Mutation_p.K564E|MUSK_ENST00000189978.5_Missense_Mutation_p.K564E|MUSK_ENST00000374438.1_Missense_Mutation_p.K80E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	564					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K564*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTGAACCCCAAATTGCTCAG	0.483000													65	112					0	0	0.139131	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													3	5	---	---	---	---					
MUSK	4593	broad.mit.edu	37	9	113457754	113457754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	ENST00000416899.2	+	4	556	c.430delA	c.(430-432)cafs	p.T144fs	MUSK_ENST00000189978.5_Frame_Shift_Del_p.T144fs|MUSK_ENST00000374439.1_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374440.3_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374448.4_Frame_Shift_Del_p.T144fs			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	144	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCATGTACTACAATGGGTAA	0.328													2	4	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25481200	25481201	+	RNA	INS	-	-	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:25481200_25481201insT	ENST00000453082.2	+	0	1934					NR_003343.1																						TCCACTGGAAGTTTTTTTTGCG	0.510													7	188	---	---	---	---					
UBE2Q2P1	0	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939347	76939348	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	ENST00000373344.5	-	9	1614_1615	c.1400_1401delAA	c.(1399-1401)afs	p.K467fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K429fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	467					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)	TATCTACCTGTTTTCTTGAAAG	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						103	67	---	---	---	---