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-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_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)			17	20					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53682342	53682342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:53682342G>A	ENST00000257934.4	+	20	4658	c.4567G>A	c.(4567-4569)Ggc>Agc	p.G1523S	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1523S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1523					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAGCTCCGGGCCCTGAGGC	0.577000											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:179579723G>A	ENST00000589042.1	-	90	26414	c.26190C>T	c.(26188-26190)atC>atT	p.I8730I	TTN_ENST00000591111.1_Silent_p.I8413I|TTN_ENST00000342992.6_Silent_p.I7486I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8413	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAGAGCGATGGAACCAA	0.473000													23	174					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204752	128204752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:128204752C>T	ENST00000341105.2	-	3	1020	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GATA2_ENST00000430265.2_Missense_Mutation_p.R230H|GATA2_ENST00000487848.1_Missense_Mutation_p.R230H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	230					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TAGGCCTGGGCGCAGGGGACT	0.642000			Mis		AML(CML blast transformation)								7	24					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99313217	99313217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:99313217A>G	ENST00000408927.3	+	6	736	c.623A>G	c.(622-624)aAt>aGt	p.N208S	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.N159S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.N209S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.N209S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.N160S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	208							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GCATTTGGTAATTTAGCAGAA	0.333000			T	NUP98	T-ALL								19	35					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852507	15852507	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:15852507T>A	ENST00000305892.1	+	1	305	c.305T>A	c.(304-306)aTg>aAg	p.M102K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCCATTCAGATGTTCTTCTCC	0.493000													30	352					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728700	50728700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:50728700G>A	ENST00000449103.1	-	3	454	c.314C>T	c.(313-315)cCc>cTc	p.P105L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P105L			O15031	PLXB2_HUMAN	plexin B2	105	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGCTTCCTGGGAGGGTCGAG	0.637000													9	40					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540757	133540757	+	Silent	SNP	G	G	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:133540757G>T	ENST00000409261.1	-	14	4000	c.3627C>A	c.(3625-3627)acC>acA	p.T1209T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1209T|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1209							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATCCGGTAGGGTCACATTTC	0.507000													30	49					3.65163e-15	3.84725e-15	1	1	0
SF3B2	10992	broad.mit.edu	37	11	65835634	65835634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:65835634G>A	ENST00000528302.1	+	20	2449	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Missense_Mutation_p.G816S			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	816					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.G816S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAGCCGGAAGGGCCCGGCTCC	0.572000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	74					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035065	48035065	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:48035065G>T	ENST00000295461.5	+	4	492	c.426G>T	c.(424-426)ttG>ttT	p.L142F	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	142						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CTGCCACCTTGGTCACCCCTC	0.428000													29	34					3.80469e-20	4.0814e-20	1	1	0
NBEA	26960	broad.mit.edu	37	13	36242525	36242525	+	Silent	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:36242525C>T	ENST00000540320.1	+	57	9153	c.8619C>T	c.(8617-8619)gaC>gaT	p.D2873D	NBEA_ENST00000379922.3_Silent_p.D451D|NBEA_ENST00000400445.3_Silent_p.D2873D|NBEA_ENST00000379939.2_Silent_p.D2870D|NBEA_ENST00000310336.4_Silent_p.D2873D|NBEA_ENST00000537702.1_Silent_p.D666D			Q8NFP9	NBEA_HUMAN	neurobeachin	2873						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAGCAGTGACGGCCAGAACC	0.433000													8	9					0	0	1	0	0
RP11-85K15.2	0	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448000													8	68					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5076164	5076164	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:5076164T>C	ENST00000574788.1	+	38	6342	c.4112T>C	c.(4111-4113)aTa>aCa	p.I1371T	USP6_ENST00000304328.5_Missense_Mutation_p.I1054T|USP6_ENST00000250066.6_Missense_Mutation_p.I1371T|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1371					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCAGGGGATAGACTACGCA	0.423000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								15	126					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36093661	36093661	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:36093661C>T	ENST00000225893.4	-	3	1059	c.698G>A	c.(697-699)cGc>cAc	p.R233H	HNF1B_ENST00000427275.2_Missense_Mutation_p.R207H|HNF1B_ENST00000560016.1_Missense_Mutation_p.R233H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R207H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	233					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAACCGGTTGCGGCGCATCTT	0.567000													16	99					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:40735471G>A	ENST00000373198.3	-	25	3646	c.3411C>T	c.(3409-3411)tgC>tgT	p.C1137C	PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373187.1_Silent_p.C1115C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373201.1_Silent_p.C1105C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582000													28	61					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621138	56621138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:56621138C>T	ENST00000321691.3	-	1	591	c.410G>A	c.(409-411)aGc>aAc	p.S137N	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	137										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTGACTTGCTCTCACTGCC	0.483000													33	67					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216083	103216083	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:103216083T>C	ENST00000424685.2	-	29	4374	c.4215A>G	c.(4213-4215)ggA>ggG	p.G1405G	RELN_ENST00000428762.1_Silent_p.G1405G|RELN_ENST00000343529.5_Silent_p.G1405G			P78509	RELN_HUMAN	reelin	1405					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATATGTACACTCCATCTAAAC	0.478000													10	86					0	0	1	0	0
THAP7-AS1	0	broad.mit.edu	37	22	21363452	21363452	+	RNA	SNP	A	A	G	rs378449	by1000genomes	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:21363452A>G	ENST00000452284.1	+	0	1119				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GTTGGTGTACATGGGACACTC	0.527000													7	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)		ACCACCACACTATGTCGAAAA	0.537000		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)			21	30					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410227	5410227	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:5410227G>C	ENST00000399537.4	-	11	4346	c.3998C>G	c.(3997-3999)cCc>cGc	p.P1333R	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1333R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1333							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGACTGGGCAGGAACTG	0.701000													4	16					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	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								23	36					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008572	176008572	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:176008572A>T	ENST00000510636.1	+	17	2321	c.2047A>T	c.(2047-2049)Atc>Ttc	p.I683F	CDHR2_ENST00000261944.5_Missense_Mutation_p.I683F|CDHR2_ENST00000506348.1_Missense_Mutation_p.I683F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	683	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAATGTCACCATCACTGTGGA	0.627000													6	43					0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1019628	1019628	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:1019628G>A	ENST00000448924.1	-	10	1146	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000294576.5_Missense_Mutation_p.R203W|C1orf159_ENST00000379320.1_Missense_Mutation_p.R203W|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R239W			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	239	Pro-rich.					integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGGGTGGCCGAGATCCAGAG	0.662000													6	40					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	22					1	1	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36226110	36226110	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:36226110T>C	ENST00000258840.6	-	7	942	c.552A>G	c.(550-552)caA>caG	p.Q184Q	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.Q184Q|RALGAPA1_ENST00000382366.3_Silent_p.Q184Q|RALGAPA1_ENST00000307138.6_Silent_p.Q184Q			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	184					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATAGTGACTTGAGCTATCC	0.313000													12	85					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													6	14					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586503	189586503	+	Missense_Mutation	SNP	G	G	A	rs143591434		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:189586503G>A	ENST00000264731.3	+	8	1216	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TP63_ENST00000418709.2_Missense_Mutation_p.R376H|TP63_ENST00000440651.2_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.R376H|TP63_ENST00000392463.2_Missense_Mutation_p.R282H|TP63_ENST00000354600.5_Missense_Mutation_p.R282H|TP63_ENST00000449992.1_Missense_Mutation_p.R197H|TP63_ENST00000437221.1_Missense_Mutation_p.R282H|TP63_ENST00000456148.1_Intron|TP63_ENST00000392460.3_Missense_Mutation_p.R376H|TP63_ENST00000392461.3_Missense_Mutation_p.R282H|TP63_ENST00000382063.4_Missense_Mutation_p.R291H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	376	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGTACGAAGCGCCGTAAGTAG	0.493000										HNSCC(45;0.13)			21	63					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33264226	33264226	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:33264226T>C	ENST00000497454.1	-	5	930	c.435A>G	c.(433-435)gaA>gaG	p.E145E	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.E63E	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	145	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TAGGATGAGATTCAAGGGCTT	0.517000													8	47					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586252	7586252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7586252C>T	ENST00000313599.3	-	3	220	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	CD163L1_ENST00000396630.1_Missense_Mutation_p.G55S|CD163L1_ENST00000416109.2_Missense_Mutation_p.G55S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	55	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGGGACCGTCTCCATTG	0.468000													30	78					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28145181	28145181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:28145181G>A	ENST00000304658.5	-	11	2017	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	XPO6_ENST00000565698.1_Missense_Mutation_p.T492M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	506					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAAGGCGTGCGTGGGCAGGAG	0.582000													17	19					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832445	34832445	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:34832445T>C	ENST00000299505.6	+	10	2479	c.1606T>C	c.(1606-1608)Ttc>Ctc	p.F536L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	536										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAGAAGACATTCTCCAAACT	0.463000													13	79					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169820405	169820405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:169820405C>T	ENST00000494943.1	-	14	2727	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	PHC3_ENST00000467570.1_3'UTR|PHC3_ENST00000495893.1_Missense_Mutation_p.E899K			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	887					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTTTCCCGCTCGCTCTGCCTG	0.478000													7	63					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600414	48600414	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:48600414C>T	ENST00000323776.5	+	11	1663	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R464W	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	464					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.R501W(1)|p.R464W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGACTGGCGACGGCAGCACCA	0.507000													14	101					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762132	62762132	+	Silent	SNP	A	A	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:62762132A>G	ENST00000336232.2	-	8	1233	c.1098T>C	c.(1096-1098)gaT>gaC	p.D366D	SLC22A8_ENST00000311438.8_Silent_p.D366D|SLC22A8_ENST00000545207.1_Silent_p.D275D|SLC22A8_ENST00000535878.1_Silent_p.D243D|SLC22A8_ENST00000430500.2_Silent_p.D366D	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	366					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGGCTGGGACATCGACCCCAC	0.547000													23	22					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957173	33957173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:33957173G>A	ENST00000361328.3	+	6	1468	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E385K	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	439					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGATGGATGAGCAGGAGGA	0.612000													39	54					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1815104	1815104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:1815104G>A	ENST00000250894.4	+	20	2525	c.2368G>A	c.(2368-2370)Gcc>Acc	p.A790T	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A784T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	790					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GATCATCGACGCCAACCAGCC	0.637000													17	31					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756032	183756032	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:183756032G>A	ENST00000334128.2	+	4	590	c.365G>A	c.(364-366)cGt>cAt	p.R122H	HTR3D_ENST00000453435.1_Missense_Mutation_p.R76H|HTR3D_ENST00000382489.3_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.R247H	NM_182537.2	NP_872343.2	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	295						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCACTAGTACGTCCTCATCCA	0.507000													26	21					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143310865	143310865	+	Missense_Mutation	SNP	C	C	T	rs139787483		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:143310865C>T	ENST00000524325.1	-	13	1694	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	TSNARE1_ENST00000520166.1_Missense_Mutation_p.A508T|TSNARE1_ENST00000307180.3_Missense_Mutation_p.A508T			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	508	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGAGGTGGCGATGATGATG	0.517000													21	54					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227935682	227935682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:227935682C>T	ENST00000366759.4	+	2	794	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.S127F	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTTCAGCTCCCTGCGGCCA	0.552000													9	84					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18249993	18249993	+	Silent	SNP	A	A	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:18249993A>C	ENST00000397239.3	-	7	1098	c.651T>G	c.(649-651)gcT>gcG	p.A217A	DEK_ENST00000244776.7_Silent_p.A183A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	217					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGTTCGCTTAGCCTTCCTTG	0.353000			T	NUP214	AML								8	70					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677341	3677341	+	Silent	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:3677341G>A	ENST00000344754.4	-	10	2574	c.2575C>T	c.(2575-2577)Ctg>Ttg	p.L859L	SIGLEC1_ENST00000202578.4_Silent_p.L859L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	859	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTAACTTCAGGGAGTTGGCC	0.587000													14	70					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54952877	54952877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:54952877G>A	ENST00000173898.7	+	8	1724	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	TRO_ENST00000420798.2_Missense_Mutation_p.V69M|TRO_ENST00000375022.4_Missense_Mutation_p.V538M|TRO_ENST00000399736.1_Missense_Mutation_p.V141M|TRO_ENST00000375041.2_Missense_Mutation_p.V141M|TRO_ENST00000319167.8_Missense_Mutation_p.V538M	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	538	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTCCTCATGGTGATTCTGAG	0.478000													7	24					0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796306	49796306	+	Silent	SNP	C	C	T	rs150012357		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:49796306C>T	ENST00000218721.1	+	2	1032	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	344					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TGCAACTTTTCTATCTGAGCG	0.473000													22	168					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:154842200_154842202delGCT	ENST00000271915.3	-	1	554_556	c.239_241delAGC	c.(238-243)cca>c	p.QP80del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													5	11	---	---	---	---					
SMPD1	6609	broad.mit.edu	37	11	6412859	6412860	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:6412859_6412860insA	ENST00000342245.4	+	2	732_733	c.564_565insA	c.(562-567)ccaaccfs	p.T189fs	SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.T188fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.T189fs|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.T189fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	187					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	AGCCGCCCCCCAAACCCCCTAG	0.624													2	4	---	---	---	---					
ITPKC	80271	broad.mit.edu	37	19	41235209	41235209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:41235209delT	ENST00000263370.2	+	3	1391	c.1358delT	c.(1357-1359)ggfs	p.V453fs		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	453						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGACCTTTCGTGCCTGCCTAC	0.562													9	24	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76854995	76854995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:76854995delG	ENST00000373344.5	-	25	6055	c.5841delC	c.(5839-5841)ggfs	p.G1947fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1909fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1947	Poly-Ser.				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)	CATTGTCACTGCCACTTCCAC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						127	77	---	---	---	---