#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
PTEN	5728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	ENST00000371953.3	+	8	2321	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	322	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTAACAAAAAATGATCT	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	62	Whole gene deletion(37)|Deletion - Frameshift(12)|Insertion - Frameshift(7)|Deletion - In frame(4)|Unknown(2)	prostate(16)|central_nervous_system(12)|endometrium(8)|skin(7)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|large_intestine(2)|urinary_tract(2)|stomach(1)|soft_tissue(1)											85.0	86.0	86.0					10																	89720813		2203	4299	6502	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.964A>G	10.37:g.89720813A>G	ENSP00000361021:p.Lys322Glu		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091681	0.94149	.	.	ENSG00000171862	ENST00000371953	D	0.88201	-2.35	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95103	0.8232	9	.	.	.	-12.5629	15.3536	0.74409	1.0:0.0:0.0:0.0	.	322	P60484	PTEN_HUMAN	E	322	ENSP00000361021:K322E	.	K	+	1	0	PTEN	89710793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	AAA		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		25	35	25	35
OR51L1	119682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5020872	5020872	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	ENST00000321543.1	+	1	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403																																																0													210.0	187.0	195.0					11																	5020872		2201	4298	6499	SO:0001819	synonymous_variant	119682			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.660T>C	11.37:g.5020872T>C			Q6IFE5	Silent	SNP	ENST00000321543.1	37	CCDS31369.1																																																																																				0.403	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		16	44	16	44
OR5M3	219482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	ENST00000312240.2	-	1	683	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428																																																0													93.0	91.0	92.0					11																	56237331		2201	4296	6497	SO:0001583	missense	219482			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.643T>A	11.37:g.56237331A>T	ENSP00000312208:p.Ser215Thr		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887447	0.33348	.	.	ENSG00000174937	ENST00000312240	T	0.42900	0.96	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000868	T	0.65688	0.2715	M	0.89478	3.035	0.09310	N	0.999995	D	0.55605	0.972	P	0.60415	0.874	T	0.64433	-0.6409	10	0.87932	D	0	-19.7439	12.8019	0.57591	1.0:0.0:0.0:0.0	.	215	Q8NGP4	OR5M3_HUMAN	T	215	ENSP00000312208:S215T	ENSP00000312208:S215T	S	-	1	0	OR5M3	55993907	0.999000	0.42202	0.085000	0.20634	0.016000	0.09150	4.092000	0.57707	1.897000	0.54924	0.448000	0.29417	TCT		0.428	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		33	94	33	94
MS4A7	58475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	60152680	60152680	+	Silent	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	ENST00000300184.3	+	3	463	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A7_ENST00000534016.1_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	89						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483																																																0													171.0	172.0	172.0					11																	60152680		2203	4300	6503	SO:0001819	synonymous_variant	58475			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.267T>C	11.37:g.60152680T>C			A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	CCDS7985.1																																																																																				0.483	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			45	125	45	125
PGR	5241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	100998773	100998773	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	ENST00000325455.5	-	1	2482	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.R343R	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	343	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	AGGGTGAACTCCGCGGCGGGG	0.687																																					Pancreas(124;2271 2354 21954 22882)											0													14.0	19.0	17.0					11																	100998773		2073	4130	6203	SO:0001819	synonymous_variant	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1029G>T	11.37:g.100998773C>A			A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	CCDS8310.1																																																																																				0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			16	42	16	42
DDI1	414301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672																																																0								G	HIS/ARG,,	1,4403	2.1+/-5.4	0,1,2201	89.0	89.0	89.0		323,,	3.2	0.2	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	29,,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,,	108/397,,	103907873	2,13000	2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.323G>A	11.37:g.103907873G>A	ENSP00000302805:p.Arg108His		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521366	0.44866	2.27E-4	1.16E-4	ENSG00000170967	ENST00000302259	T	0.24908	1.83	5.02	3.16	0.36331	.	0.791492	0.11533	N	0.554491	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	D	0.60160	0.987	B	0.39660	0.306	T	0.14420	-1.0473	10	0.52906	T	0.07	-9.7142	9.7218	0.40308	0.1699:0.0:0.8301:0.0	.	108	Q8WTU0	DDI1_HUMAN	H	108	ENSP00000302805:R108H	ENSP00000302805:R108H	R	+	2	0	DDI1	103413083	0.319000	0.24607	0.156000	0.22583	0.007000	0.05969	1.378000	0.34328	0.836000	0.34901	-0.150000	0.13652	CGT		0.672	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		41	110	41	110
ATP8A2	51761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	26273415	26273415	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	ENST00000381655.2	+	25	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_ENST00000255283.8_Silent_p.A732A|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	732					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552																																																0													86.0	82.0	84.0					13																	26273415		1983	4161	6144	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2316G>A	13.37:g.26273415G>A			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																				0.552	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		8	48	8	48
INF2	64423	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T	rs201593594	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	ENST00000392634.4	+	8	1844	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_ENST00000330634.7_Missense_Mutation_p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	578	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647													C|||	3	0.000599042	0.0023	0.0	5008	,	,		12362	0.0		0.0	False		,,,				2504	0.0															0								C	CYS/ARG,CYS/ARG	14,4164		0,14,2075	34.0	37.0	36.0		1732,1732	1.7	0.0	14		36	0,8394		0,0,4197	yes	missense,missense	INF2	NM_001031714.3,NM_022489.3	180,180	0,14,6272	TT,TC,CC		0.0,0.3351,0.1114	probably-damaging,probably-damaging	578/1241,578/1250	105174336	14,12558	2089	4197	6286	SO:0001583	missense	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1732C>T	14.37:g.105174336C>T	ENSP00000376410:p.Arg578Cys		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	CCDS9989.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.33	1.605493	0.28623	0.003351	0.0	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.19394	2.15;2.15	3.87	1.66	0.24008	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.328231	0.24901	U	0.034689	T	0.35248	0.0925	M	0.78049	2.395	0.09310	N	0.999997	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	T	0.08700	-1.0709	10	0.56958	D	0.05	.	6.323	0.21229	0.3303:0.5539:0.0:0.1158	.	578;578	Q27J81-2;Q27J81	.;INF2_HUMAN	C	578	ENSP00000376406:R578C;ENSP00000376410:R578C	ENSP00000252527:R46C	R	+	1	0	INF2	104245381	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.376000	0.20535	0.604000	0.29930	-0.339000	0.08088	CGT		0.647	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	27	11	27
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	ENST00000261517.5	-	44	4997	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318																																																0													55.0	54.0	55.0					15																	62238562		2203	4295	6498	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4924G>A	15.37:g.62238562C>T	ENSP00000261517:p.Ala1642Thr			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581538	0.65992	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.44482	0.92;0.92;0.92;0.99	5.47	5.47	0.80525	.	0.061555	0.64402	D	0.000005	T	0.56529	0.1991	M	0.74647	2.275	0.53688	D	0.999972	P;P;P;P	0.39044	0.656;0.648;0.517;0.517	P;P;B;B	0.48952	0.477;0.596;0.379;0.391	T	0.57382	-0.7821	10	0.49607	T	0.09	.	15.0809	0.72113	0.1506:0.8494:0.0:0.0	.	1599;1642;1599;1642	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	1599;1642;1642;1642	ENSP00000249837:A1599T;ENSP00000261517:A1642T;ENSP00000379233:A1642T;ENSP00000379235:A1642T	ENSP00000249837:A1599T	A	-	1	0	VPS13C	60025854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.013000	0.57138	2.569000	0.86673	0.650000	0.86243	GCC		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	24	5	24
RGS11	8786	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	321439	321439	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	ENST00000397770.3	-	11	725	c.708G>A	c.(706-708)gcG>gcA	p.A236A	RGS11_ENST00000359740.5_Silent_p.A225A|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.A215A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647																																																0													80.0	75.0	77.0					16																	321439		2203	4300	6503	SO:0001819	synonymous_variant	8786			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.708G>A	16.37:g.321439C>T			O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	CCDS42088.1																																																																																				0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			10	45	10	45
KNOP1	400506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	19726120	19726120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:19726120C>A	ENST00000219837.7	-	2	316	c.238G>T	c.(238-240)Gag>Tag	p.E80*	IQCK_ENST00000320394.6_5'Flank|AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	80	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTACATGCTCCTCGCAAAGG	0.542																																																0													68.0	67.0	67.0					16																	19726120		2045	4200	6245	SO:0001587	stop_gained	400506			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.238G>T	16.37:g.19726120C>A	ENSP00000219837:p.Glu80*		O43328|Q5FWF3	Nonsense_Mutation	SNP	ENST00000219837.7	37	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627656	0.46944	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.61	4.61	0.57282	.	2.404440	0.01400	N	0.013550	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0293	13.1209	0.59325	0.0:1.0:0.0:0.0	.	.	.	.	X	80	.	.	E	-	1	0	C16orf88	19633621	0.003000	0.15002	0.042000	0.18584	0.008000	0.06430	0.336000	0.19823	2.533000	0.85409	0.561000	0.74099	GAG		0.542	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		14	52	14	52
POLR2C	5432	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	57504027	57504027	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	ENST00000219252.5	+	7	932	c.594C>T	c.(592-594)ccC>ccT	p.P198P	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	198					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537																																																0													63.0	57.0	59.0					16																	57504027		2198	4300	6498	SO:0001819	synonymous_variant	5432				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.594C>T	16.37:g.57504027C>T			O15161	Silent	SNP	ENST00000219252.5	37	CCDS10782.1																																																																																				0.537	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		13	18	13	18
NFATC1	4772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	ENST00000427363.2	+	2	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Missense_Mutation_p.V141E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	141	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATGTGGAGGTGGAAGACGTC	0.627																																					GBM(151;1210 2593 28719 45011)											0													47.0	44.0	45.0					18																	77170697		2202	4298	6500	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.422T>A	18.37:g.77170697T>A	ENSP00000389377:p.Val141Glu		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	T	7.366	0.625860	0.14257	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.70749	1.03;-0.51;1.03	4.55	2.13	0.27403	.	0.114080	0.38326	N	0.001728	T	0.55970	0.1954	L	0.31926	0.97	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.016;0.016;0.016;0.016;0.016;0.016;0.016	B;B;B;B;B;B;B	0.16289	0.015;0.015;0.01;0.015;0.015;0.015;0.015	T	0.47548	-0.9109	10	0.46703	T	0.11	-30.5589	8.6364	0.33950	0.0:0.1579:0.0:0.8421	.	128;128;141;141;141;128;141	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	E	141;141;141;128;128;105	ENSP00000253506:V141E;ENSP00000442435:V141E;ENSP00000327850:V128E	ENSP00000253506:V141E	V	+	2	0	NFATC1	75271685	1.000000	0.71417	0.996000	0.52242	0.131000	0.20780	5.468000	0.66743	0.273000	0.22049	0.459000	0.35465	GTG		0.627	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		10	23	10	23
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	ENST00000600128.1	-	19	2800	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	FBN3_ENST00000601739.1_Missense_Mutation_p.R796W|FBN3_ENST00000270509.2_Missense_Mutation_p.R796W			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTCCAGCCGGCTGCCAGGG	0.657																																																0													32.0	35.0	34.0					19																	8191627		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2386C>T	19.37:g.8191627G>A	ENSP00000470498:p.Arg796Trp		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	15.31	2.794207	0.50102	.	.	ENSG00000142449	ENST00000270509	D	0.87571	-2.27	3.45	1.03	0.20045	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.140722	0.44285	U	0.000470	D	0.88880	0.6557	M	0.63208	1.945	0.23487	N	0.997577	D	0.76494	0.999	D	0.66084	0.941	T	0.78889	-0.2026	10	0.66056	D	0.02	.	4.8325	0.13447	0.1223:0.0:0.4173:0.4603	.	796	Q75N90	FBN3_HUMAN	W	796	ENSP00000270509:R796W	ENSP00000270509:R796W	R	-	1	2	FBN3	8097627	1.000000	0.71417	0.570000	0.28473	0.344000	0.29017	3.836000	0.55813	0.445000	0.26639	0.491000	0.48974	CGG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		15	39	15	39
CACNA1A	773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGCGAGGACGATGCAATTC	0.453																																																0													193.0	193.0	193.0					19																	13565980		2042	4220	6262	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.340G>A	19.37:g.13565980C>T	ENSP00000353362:p.Val114Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112780	0.94339	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.71222	-0.55	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000009	D	0.84678	0.5525	M	0.80422	2.495	0.53688	D	0.999977	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	D	0.86819	0.2003	10	0.72032	D	0.01	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	114;114	O00555;Q9NS88	CAC1A_HUMAN;.	I	114	ENSP00000353362:V114I	ENSP00000317661:V114I	V	-	1	0	CACNA1A	13426980	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	7.684000	0.84104	2.489000	0.83994	0.655000	0.94253	GTC		0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		44	116	44	116
SHKBP1	92799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41096328	41096328	+	Splice_Site	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	ENST00000291842.5	+	16	1817	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	LTBP4_ENST00000545697.1_5'Flank|LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Splice_Site_p.A565T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	590					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682																																																0													13.0	17.0	16.0					19																	41096328		2187	4276	6463	SO:0001630	splice_region_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1768+1G>A	19.37:g.41096328G>A			Q8N2I6|Q8WY93|Q96IB8	Splice_Site	SNP	ENST00000291842.5	37	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915916	0.52546	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.46451	0.87	4.41	4.41	0.53225	.	0.269446	0.31450	N	0.007630	T	0.32224	0.0822	L	0.46157	1.445	0.34569	D	0.713176	B;B;B;P	0.35155	0.027;0.029;0.003;0.487	B;B;B;B	0.31101	0.015;0.009;0.003;0.124	T	0.42882	-0.9425	10	0.16896	T	0.51	-2.588	12.8406	0.57800	0.0:0.0:1.0:0.0	.	468;370;590;590	B4DLI0;B4DUW2;B2R6W9;Q8TBC3	.;.;.;SHKB1_HUMAN	T	590;370	ENSP00000291842:A590T	ENSP00000291842:A590T	A	+	1	0	SHKBP1	45788168	.	.	1.000000	0.80357	0.824000	0.46624	.	.	2.162000	0.67917	0.462000	0.41574	GCA		0.682	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	Missense_Mutation	9	25	9	25
SLC8A2	6543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	47935602	47935602	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	ENST00000236877.6	-	9	2606	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_ENST00000542837.1_Silent_p.F493F|SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000539381.1_Silent_p.F200F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	737					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652																																																0													101.0	88.0	92.0					19																	47935602		2203	4300	6503	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2211C>T	19.37:g.47935602G>A			B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																				0.652	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			26	79	26	79
KLK8	11202	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000320838.5_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542																																																1	Substitution - Missense(1)	lung(1)						C	ILE/VAL,ILE/VAL,ILE/VAL,	1,4405	2.1+/-5.4	0,1,2202	174.0	161.0	165.0		721,856,298,	3.6	0.9	19	dbSNP_129	165	0,8600		0,0,4300	no	missense,missense,missense,utr-3	KLK8	NM_007196.2,NM_144505.1,NM_144506.1,NM_144507.1	29,29,29,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,	241/261,286/306,100/120,	51499377	1,13005	2203	4300	6503	SO:0001583	missense	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.721G>A	19.37:g.51499377C>T	ENSP00000472016:p.Val241Ile		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602044	0.46423	2.27E-4	0.0	ENSG00000129455	ENST00000391806;ENST00000291726;ENST00000347619	D;D;D	0.90732	-2.72;-2.72;-2.72	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.39834	N	0.001253	D	0.92331	0.7567	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.995;0.968;0.997	D	0.90875	0.4749	10	0.48119	T	0.1	.	7.4155	0.27042	0.0:0.8058:0.0:0.1942	rs56296296	100;241;286	O60259-3;O60259;O60259-2	.;KLK8_HUMAN;.	I	286;241;100	ENSP00000375682:V286I;ENSP00000291726:V241I;ENSP00000341555:V100I	ENSP00000291726:V241I	V	-	1	0	KLK8	56191189	0.998000	0.40836	0.855000	0.33649	0.063000	0.16089	3.907000	0.56348	1.308000	0.44962	0.563000	0.77884	GTC		0.542	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		42	142	42	142
PEG3	5178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	ENST00000326441.9	-	10	2899	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	846					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S846G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433																																																2	Substitution - Missense(2)	biliary_tract(2)											96.0	93.0	94.0					19																	57327274		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2536A>G	19.37:g.57327274T>C	ENSP00000326581:p.Ser846Gly		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	9.601	1.128650	0.21041	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.0	-2.33	0.06724	.	1.234140	0.05651	N	0.585172	T	0.02156	0.0067	N	0.19112	0.55	.	.	.	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.48151	-0.9060	9	0.62326	D	0.03	-2.5756	3.6272	0.08117	0.1146:0.0961:0.4795:0.3099	.	722;846;781	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	846	ENSP00000326581:S846G;ENSP00000403051:S846G	ENSP00000326581:S846G	S	-	1	0	ZIM2	62019086	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	0.178000	0.16820	-0.440000	0.07211	0.482000	0.46254	AGT		0.433	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			25	50	25	50
HSPG2	3339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	ENST00000374695.3	-	26	3476	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1133	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.			R -> L (in Ref. 6; AAB21121). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697																																																0													32.0	31.0	32.0					1																	22201401		2200	4299	6499	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3397C>T	1.37:g.22201401G>A	ENSP00000363827:p.Arg1133Cys		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713932	0.48622	.	.	ENSG00000142798	ENST00000374695	T	0.61980	0.06	5.27	4.35	0.52113	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.193190	0.25660	N	0.029145	T	0.80105	0.4562	M	0.85197	2.74	0.45005	D	0.998023	D	0.89917	1.0	D	0.85130	0.997	T	0.81790	-0.0771	10	0.48119	T	0.1	.	13.6339	0.62210	0.0:0.1567:0.8433:0.0	.	1133	P98160	PGBM_HUMAN	C	1133	ENSP00000363827:R1133C	ENSP00000363827:R1133C	R	-	1	0	HSPG2	22073988	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.352000	0.52239	1.195000	0.43115	0.511000	0.50034	CGT		0.697	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	8	5	8
GPATCH3	63906	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	27224101	27224101	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	ENST00000361720.5	-	2	590	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	189							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602																																																0													41.0	43.0	43.0					1																	27224101		2203	4300	6503	SO:0001819	synonymous_variant	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.567G>A	1.37:g.27224101C>T			Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	CCDS290.1																																																																																				0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		18	52	18	52
BPIFB3	359710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	31656779	31656779	+	Splice_Site	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:31656779C>T	ENST00000375494.3	+	10	1149	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	383					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCTGAACTCCGTGAGTGGTC	0.587																																																0													58.0	50.0	53.0					20																	31656779		2203	4300	6503	SO:0001630	splice_region_variant	359710			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1149+1C>T	20.37:g.31656779C>T			Q5TDX7	Splice_Site	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	Silent	14	32	14	32
WISP2	8839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	ENST00000372868.2	+	5	1053	c.710G>C	c.(709-711)tGc>tCc	p.C237S	RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C237S|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	237	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677																																																0													26.0	28.0	28.0					20																	43355905		2203	4300	6503	SO:0001583	missense	8839			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.710G>C	20.37:g.43355905G>C	ENSP00000361959:p.Cys237Ser		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.010705|4.010705	0.75046|0.75046	.|.	.|.	ENSG00000064205|ENSG00000064205	ENST00000372865|ENST00000372868;ENST00000190983	T|D;D	0.66638|0.98762	-0.22|-5.12;-5.12	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	.|0.102074	.|0.64402	.|D	.|0.000001	D|D	0.99290|0.99290	0.9752|0.9752	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	D|D	0.64830|0.89917	0.994|1.0	P|D	0.60949|0.91635	0.881|0.999	D|D	0.98763|0.98763	1.0725|1.0725	9|10	0.87932|0.87932	D|D	0|0	-20.0354|-20.0354	16.0053|16.0053	0.80359|0.80359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155|237	Q6PEG3|O76076	.|WISP2_HUMAN	P|S	155|237	ENSP00000361956:A155P|ENSP00000361959:C237S;ENSP00000190983:C237S	ENSP00000361956:A155P|ENSP00000190983:C237S	A|C	+|+	1|2	0|0	WISP2|WISP2	42789319|42789319	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.611000|0.611000	0.37282|0.37282	9.306000|9.306000	0.96204|0.96204	2.090000|2.090000	0.63153|0.63153	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.677	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		12	38	12	38
KCNB1	3745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	ENST00000371741.4	-	2	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	848					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CCATGGGCTCCTCCCCCTGGC	0.537																																																0													81.0	66.0	71.0					20																	47989555		2203	4300	6503	SO:0001583	missense	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2542G>A	20.37:g.47989555C>T	ENSP00000360806:p.Gly848Arg		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053644	0.19907	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96365	-3.99	5.03	5.03	0.67393	.	0.503060	0.17303	N	0.179197	D	0.94611	0.8263	L	0.50333	1.59	0.52501	D	0.999956	B	0.24092	0.097	B	0.19391	0.025	D	0.92024	0.5628	10	0.44086	T	0.13	.	18.1631	0.89716	0.0:1.0:0.0:0.0	.	848	Q14721	KCNB1_HUMAN	R	848;803	ENSP00000360806:G848R	ENSP00000360806:G848R	G	-	1	0	KCNB1	47422962	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	4.286000	0.58995	2.598000	0.87819	0.655000	0.94253	GGA		0.537	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		11	34	11	34
ZNF280B	140883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	22843526	22843526	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	ENST00000406426.1	-	4	940	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ZNF280B_ENST00000360412.2_Silent_p.P66P			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408																																																0													143.0	130.0	135.0					22																	22843526		2203	4300	6503	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.198G>A	22.37:g.22843526C>T				Silent	SNP	ENST00000406426.1	37	CCDS13799.1																																																																																				0.408	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		14	78	14	78
SLC5A1	6523	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	32487648	32487648	+	Silent	SNP	C	C	T	rs201456202		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	ENST00000266088.4	+	11	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_ENST00000543737.1_Silent_p.S266S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	393					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TCATGAGCTCCCTGACCTCCA	0.527																																																0													132.0	113.0	119.0					22																	32487648		2203	4300	6503	SO:0001819	synonymous_variant	6523				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1179C>T	22.37:g.32487648C>T			B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	CCDS13902.1																																																																																				0.527	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		24	78	24	78
CCDC134	79879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	42221755	42221755	+	Silent	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	ENST00000255784.5	+	7	722	c.618C>A	c.(616-618)cgC>cgA	p.R206R	CCDC134_ENST00000402061.3_Silent_p.R93R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532																																																0													74.0	70.0	71.0					22																	42221755		2203	4300	6503	SO:0001819	synonymous_variant	79879			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.618C>A	22.37:g.42221755C>A				Silent	SNP	ENST00000255784.5	37	CCDS33654.1																																																																																				0.532	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		18	51	18	51
ATG7	10533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	11600065	11600065	+	IGR	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	ENST00000354449.3	+	0	4959				VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I|VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I|VGLL4_ENST00000273038.3_Missense_Mutation_p.V280I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTGTGGCTGACCATGTGGGCA	0.622																																																0													45.0	51.0	49.0					3																	11600065		2203	4299	6502	SO:0001628	intergenic_variant	9686			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600065C>T			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	c	14.71	2.617209	0.46736	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.48836	0.81;0.82;0.8	5.01	3.22	0.36961	.	0.181219	0.48286	D	0.000185	T	0.36552	0.0971	L	0.54323	1.7	0.50632	D	0.999885	B;B;B;B;B	0.24721	0.041;0.003;0.003;0.11;0.041	B;B;B;B;B	0.17433	0.011;0.004;0.004;0.018;0.011	T	0.10567	-1.0624	10	0.23891	T	0.37	-42.1867	6.3283	0.21257	0.1494:0.6989:0.0:0.1517	.	286;200;196;285;280	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	I	280;221;200;196;286;285	ENSP00000273038:V280I;ENSP00000404251:V286I;ENSP00000384705:V285I	ENSP00000273038:V280I	V	-	1	0	VGLL4	11575065	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.501000	0.45389	0.525000	0.28522	-0.216000	0.12614	GTC		0.622	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		16	56	16	56
PRSS50	29122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	46755847	46755847	+	Silent	SNP	G	G	A	rs374975497		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	ENST00000460241.1	-	9	2285	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_ENST00000315170.7_Silent_p.N205N			Q9UI38	TSP50_HUMAN	protease, serine, 50	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607																																					Pancreas(41;915 1239 11561 17469)											0								G		1,4405	2.1+/-5.4	0,1,2202	92.0	72.0	78.0		615	-4.7	0.0	3		78	0,8600		0,0,4300	no	coding-synonymous	PRSS50	NM_013270.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		205/386	46755847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.615C>T	3.37:g.46755847G>A				Silent	SNP	ENST00000460241.1	37	CCDS2745.1																																																																																				0.607	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			9	11	9	11
NIT2	56954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	rs183950946	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	5	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													C|||	2	0.000399361	0.0	0.0029	5008	,	,		24193	0.0		0.0	False		,,,				2504	0.0															0													143.0	142.0	142.0					3																	100057936		2203	4300	6503	SO:0001583	missense	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.13C>T	3.37:g.100057936C>T	ENSP00000377696:p.Arg5Cys		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	21.8|21.8	4.199522|4.199522	0.79015|0.79015	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000497785|ENST00000394140	.|D	.|0.88354	.|-2.37	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95484|0.95484	0.8533|0.8533	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.78314	.|0.958;0.991	D|D	0.96030|0.96030	0.9016|0.9016	5|10	.|0.87932	.|D	.|0	-5.125|-5.125	19.112|19.112	0.93319|0.93319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5;5	.|B7Z3F9;Q9NQR4	.|.;NIT2_HUMAN	L|C	98|5	.|ENSP00000377696:R5C	.|ENSP00000377696:R5C	P|R	+|+	2|1	0|0	NIT2|NIT2	101540626|101540626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.588000|0.588000	0.36517|0.36517	4.984000|4.984000	0.63838|0.63838	2.594000|2.594000	0.87642|0.87642	0.484000|0.484000	0.47621|0.47621	CCG|CGC		0.473	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		33	102	33	102
JAKMIP1	152789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	6043922	6043922	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	ENST00000409021.3	-	17	2510	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_ENST00000409371.3_Silent_p.A502A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	29					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547																																																0													85.0	89.0	88.0					4																	6043922		1942	4133	6075	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2061C>T	4.37:g.6043922G>A			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	CCDS47005.1																																																																																				0.547	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		10	50	10	50
ZCCHC4	29063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	ENST00000302874.4	+	7	925	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	301							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378																																																0													129.0	123.0	124.0					4																	25351255		1828	4089	5917	SO:0001587	stop_gained	29063			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.901C>T	4.37:g.25351255C>T	ENSP00000303468:p.Gln301*		B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Nonsense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.242039|4.242039	0.79912|0.79912	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	.|.	.|.	.|.	5.51|5.51	4.66|4.66	0.58398|0.58398	.|.	0.419332|.	0.29192|.	N|.	0.012876|.	.|T	.|0.44456	.|0.1294	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53429	.|-0.8440	.|3	0.23891|.	T|.	0.37|.	-13.7189|-13.7189	7.0488|7.0488	0.25061|0.25061	0.0:0.7341:0.1756:0.0903|0.0:0.7341:0.1756:0.0903	.|.	.|.	.|.	.|.	X|L	301|165	.|.	ENSP00000303468:Q301X|.	Q|S	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24960353|24960353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.414000|1.414000	0.34736|0.34736	2.579000|2.579000	0.87056|0.87056	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.378	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			28	70	28	70
AFM	173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	ENST00000226355.3	+	5	616	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	175	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398																																																0													158.0	146.0	150.0					4																	74352724		2203	4300	6503	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.523G>A	4.37:g.74352724G>A	ENSP00000226355:p.Ala175Thr		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319183	0.41096	.	.	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	4.81	3.07	0.35406	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472476	0.21315	N	0.076579	T	0.66076	0.2753	M	0.74647	2.275	0.29432	N	0.859763	P	0.36086	0.536	B	0.26693	0.072	T	0.64407	-0.6415	10	0.45353	T	0.12	.	6.573	0.22549	0.2147:0.0:0.7853:0.0	.	175	P43652	AFAM_HUMAN	T	175	ENSP00000226355:A175T	ENSP00000226355:A175T	A	+	1	0	AFM	74571588	0.000000	0.05858	0.625000	0.29200	0.811000	0.45836	0.285000	0.18883	1.021000	0.39600	0.467000	0.42956	GCC		0.398	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			17	62	17	62
PCDHGA5	56110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587																																																0													82.0	83.0	83.0					5																	140744613		2084	4212	6296	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.716C>T	5.37:g.140744613C>T	ENSP00000429834:p.Ala239Val		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	6.873	0.530482	0.13127	.	.	ENSG00000253485	ENST00000518069	T	0.03181	4.02	5.4	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.56124	1.755	0.09310	N	1	P;P	0.43607	0.812;0.51	B;B	0.37943	0.261;0.133	T	0.40251	-0.9573	9	0.49607	T	0.09	.	6.1384	0.20247	0.157:0.6925:0.0:0.1505	.	239;239	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	239	ENSP00000429834:A239V	ENSP00000429834:A239V	A	+	2	0	PCDHGA5	140724797	0.045000	0.20229	0.160000	0.22671	0.023000	0.10783	1.665000	0.37449	1.341000	0.45600	0.467000	0.42956	GCG		0.587	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		25	80	25	80
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	rs377736336		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507																																																0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	152.0	147.0	149.0		8777	-2.4	0.0	5		149	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2926/4350	150921911	1,13005	2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8777C>T	5.37:g.150921911G>A	ENSP00000261800:p.Ala2926Val		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.472	0.455265	0.12283	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.01821	4.62	6.05	-2.38	0.06622	Cadherin (3);Cadherin-like (1);	0.514050	0.19142	N	0.121670	T	0.01189	0.0039	N	0.13327	0.33	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.46331	-0.9199	10	0.10636	T	0.68	.	14.7649	0.69632	0.442:0.0:0.558:0.0	.	2926	Q9NYQ8	FAT2_HUMAN	V	2926	ENSP00000261800:A2926V	ENSP00000261800:A2926V	A	-	2	0	FAT2	150902104	0.085000	0.21516	0.004000	0.12327	0.037000	0.13140	0.445000	0.21677	-0.525000	0.06391	-2.259000	0.00280	GCG		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		38	122	38	122
DPPA5	340168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	ENST00000370370.3	-	2	185	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612																																																0													48.0	49.0	49.0					6																	74063752		2203	4300	6503	SO:0001583	missense	340168				CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.116C>T	6.37:g.74063752G>A	ENSP00000359396:p.Pro39Leu		B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315678	0.23908	.	.	ENSG00000203909	ENST00000370370	T	0.14144	2.53	3.74	-1.53	0.08611	K Homology (1);	0.778682	0.11334	N	0.574756	T	0.03915	0.0110	M	0.65975	2.015	0.22366	N	0.999169	P	0.45011	0.848	B	0.34385	0.181	T	0.26883	-1.0090	10	0.62326	D	0.03	.	4.1494	0.10230	0.0942:0.4489:0.3039:0.153	.	39	A6NC42	DPPA5_HUMAN	L	39	ENSP00000359396:P39L	ENSP00000359396:P39L	P	-	2	0	DPPA5	74120473	0.045000	0.20229	0.016000	0.15963	0.014000	0.08584	-0.240000	0.08952	-0.330000	0.08514	-1.740000	0.00687	CCG		0.612	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		27	63	27	63
MACC1	346389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	ENST00000400331.5	-	5	2323	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_ENST00000589011.1_Missense_Mutation_p.G672V|MACC1_ENST00000332878.4_Missense_Mutation_p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	672					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338																																																0													62.0	64.0	64.0					7																	20197969		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2015G>T	7.37:g.20197969C>A	ENSP00000383185:p.Gly672Val		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619191	0.66787	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.35048	1.33;1.33	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.68239	-0.5461	10	0.72032	D	0.01	-16.8875	19.6484	0.95791	0.0:1.0:0.0:0.0	.	672	Q6ZN28	MACC1_HUMAN	V	672	ENSP00000383185:G672V;ENSP00000328410:G672V	ENSP00000328410:G672V	G	-	2	0	MACC1	20164494	0.998000	0.40836	1.000000	0.80357	0.828000	0.46876	4.964000	0.63701	2.642000	0.89623	0.563000	0.77884	GGT		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		21	40	21	40
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	ENST00000275493.2	+	7	944	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G|EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G|EGFR_ENST00000454757.2_Missense_Mutation_p.D203G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAATTCCGAGACGAAGCCACG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	central_nervous_system(1)											200.0	157.0	172.0					7																	55221723		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.767A>G	7.37:g.55221723A>G	ENSP00000275493:p.Asp256Gly		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720000	0.68844	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.81	5.81	0.92471	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.99;0.996;1.0;0.997;0.988	D	0.86749	0.1959	10	0.66056	D	0.02	.	14.9899	0.71377	1.0:0.0:0.0:0.0	.	211;256;256;256;256	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	G	211;256;126;256;256;256;256;203;50	ENSP00000415559:D211G;ENSP00000342376:D256G;ENSP00000345973:D256G;ENSP00000413843:D256G;ENSP00000275493:D256G;ENSP00000410031:D256G;ENSP00000395243:D203G	ENSP00000275493:D256G	D	+	2	0	EGFR	55189217	1.000000	0.71417	0.986000	0.45419	0.248000	0.25809	9.311000	0.96282	2.221000	0.72209	0.383000	0.25322	GAC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		42	69	42	69
WBSCR28	135886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	73280003	73280003	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	ENST00000320531.2	+	3	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	200						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612																																																0													158.0	165.0	162.0					7																	73280003		2199	4285	6484	SO:0001819	synonymous_variant	135886			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.598C>T	7.37:g.73280003C>T			Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	CCDS43597.1																																																																																				0.612	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		58	254	58	254
ABCB4	5244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	ENST00000265723.4	-	2	181	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	24					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGCTGATGCCCAGTTCAAAG	0.547																																																0													76.0	70.0	72.0					7																	87104712		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.70G>C	7.37:g.87104712C>G	ENSP00000265723:p.Gly24Arg		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	3.892	-0.023776	0.07634	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634;ENST00000417608	D;D;D;D;D	0.86769	-2.1;-2.17;-2.14;-2.17;-2.1	3.85	2.97	0.34412	ABC transporter, transmembrane domain, type 1 (1);	0.843329	0.09944	N	0.735553	T	0.75664	0.3880	N	0.19112	0.55	0.26984	N	0.965299	B;B;B;B	0.24823	0.014;0.086;0.078;0.112	B;B;B;B	0.24541	0.005;0.015;0.054;0.024	T	0.60772	-0.7197	10	0.16420	T	0.52	-3.1228	7.126	0.25471	0.0:0.876:0.0:0.124	.	24;24;24;24	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	R	24	ENSP00000352135:G24R;ENSP00000351172:G24R;ENSP00000265723:G24R;ENSP00000392983:G24R;ENSP00000437465:G24R	ENSP00000265723:G24R	G	-	1	0	ABCB4	86942648	0.012000	0.17670	0.651000	0.29564	0.143000	0.21401	0.234000	0.17930	0.834000	0.34852	0.637000	0.83480	GGC		0.547	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		15	65	15	65
HEPACAM2	253012	hgsc.bcm.edu;broad.mit.edu	37	7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	ENST00000394468.2	-	4	799	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	241	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358																																																0													83.0	84.0	84.0					7																	92838183		2203	4300	6503	SO:0001583	missense	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.722C>A	7.37:g.92838183G>T	ENSP00000377980:p.Pro241His		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200186	0.79015	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.67171	-0.25;-0.22;-0.14;-0.14	4.57	4.57	0.56435	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.85224	0.1028	10	0.87932	D	0	-20.8572	18.6746	0.91524	0.0:0.0:1.0:0.0	.	264;229;241;229	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	H	241;229;229;264	ENSP00000377980:P241H;ENSP00000340532:P229H;ENSP00000389592:P229H;ENSP00000390204:P264H	ENSP00000340532:P229H	P	-	2	0	HEPACAM2	92676119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.352000	0.90075	2.826000	0.97356	0.655000	0.94253	CCT		0.358	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		16	72	16	72
UFSP1	402682	hgsc.bcm.edu;broad.mit.edu	37	7	100486857	100486857	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12						extracellular vesicular exosome (GO:0070062)	thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567)			lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751																																																0													9.0	11.0	10.0					7																	100486857		1943	3868	5811	SO:0001819	synonymous_variant	402682			AF312032	CCDS34710.1	7q22.1	2008-03-25			ENSG00000176125	ENSG00000176125			33821	protein-coding gene	gene with protein product		611481				17182609, 18321862	Standard	NM_001015072		Approved	UFSP	uc003uxc.4	Q6NVU6	OTTHUMG00000159662	ENST00000388761.2:c.36G>A	7.37:g.100486857C>T			A4D2E4|A8K8V2|B6ZDG6|Q9BXP6	Silent	SNP	ENST00000388761.2	37	CCDS34710.1																																																																																				0.751	UFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356751.1	NM_001015072		11	41	11	41
MUC17	140453	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	ENST00000306151.4	+	3	9342	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.493																																																0													261.0	263.0	263.0					7																	100683975		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9278C>T	7.37:g.100683975C>T	ENSP00000302716:p.Thr3093Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	16.03	3.008189	0.54361	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	1.15	1.15	0.20763	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.22762	N	0.998769	D	0.58970	0.984	D	0.70487	0.969	T	0.49380	-0.8946	9	0.46703	T	0.11	.	8.3124	0.32080	0.0:1.0:0.0:0.0	.	3093	Q685J3	MUC17_HUMAN	I	3093	ENSP00000302716:T3093I	ENSP00000302716:T3093I	T	+	2	0	MUC17	100470695	0.050000	0.20438	0.111000	0.21465	0.023000	0.10783	2.548000	0.45794	0.960000	0.38005	0.121000	0.15741	ACC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		119	460	119	460
CFTR	1080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	ENST00000003084.6	+	22	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1172					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CATGCCAACAGAAGGTAAACC	0.368									Cystic Fibrosis																																							0													94.0	82.0	86.0					7																	117267621		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3514G>A	7.37:g.117267621G>A	ENSP00000003084:p.Glu1172Lys		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398909	0.62177	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.97731	-4.51;-4.51;-4.51	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.83603	2.65	0.58432	D	0.999992	B	0.24258	0.1	B	0.33121	0.158	D	0.95910	0.8922	10	0.87932	D	0	-27.575	20.3559	0.98840	0.0:0.0:1.0:0.0	.	1172	P13569	CFTR_HUMAN	K	1172;1111;1142	ENSP00000003084:E1172K;ENSP00000403677:E1111K;ENSP00000389119:E1142K	ENSP00000003084:E1172K	E	+	1	0	CFTR	117054857	1.000000	0.71417	0.996000	0.52242	0.601000	0.36947	7.864000	0.87037	2.890000	0.99128	0.585000	0.79938	GAA		0.368	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		9	50	9	50
FUT10	84750	hgsc.bcm.edu;ucsc.edu	37	8	33318925	33318925	+	Missense_Mutation	SNP	C	C	T	rs368379310		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:33318925C>T	ENST00000327671.5	-	2	677	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000524021.1_Intron	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552																																																1	Substitution - Missense(1)	lung(1)						C	ILE/VAL	0,4406		0,0,2203	193.0	140.0	158.0		46	-8.0	0.3	8		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	FUT10	NM_032664.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	16/480	33318925	1,13005	2203	4300	6503	SO:0001583	missense	84750			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.46G>A	8.37:g.33318925C>T	ENSP00000332757:p.Val16Ile		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	4.119	0.020267	0.08006	0.0	1.16E-4	ENSG00000172728	ENST00000327671;ENST00000380081	T	0.23950	1.88	5.79	-7.96	0.01144	.	4.130980	0.00397	N	0.000045	T	0.06142	0.0159	N	0.01352	-0.895	0.18873	N	0.999984	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.32375	-0.9909	10	0.02654	T	1	-4.1582	5.2209	0.15368	0.1187:0.5015:0.1214:0.2584	.	16;16;16	B4DLS4;Q6P4F1-5;Q6P4F1	.;.;FUT10_HUMAN	I	16	ENSP00000332757:V16I	ENSP00000332757:V16I	V	-	1	0	FUT10	33438467	0.000000	0.05858	0.268000	0.24571	0.925000	0.55904	-3.147000	0.00583	-1.286000	0.02384	-0.304000	0.09214	GTC		0.552	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		25	59	25	59
DMRT2	10655	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	1056823	1056823	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	ENST00000358146.2	+	3	1236	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_ENST00000382251.3_Silent_p.T412T|DMRT2_ENST00000302441.6_Silent_p.T412T|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	412					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577																																																0													116.0	109.0	111.0					9																	1056823		2203	4300	6503	SO:0001819	synonymous_variant	10655			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1236C>T	9.37:g.1056823C>T			B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Silent	SNP	ENST00000358146.2	37	CCDS6444.1																																																																																				0.577	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		49	51	49	51
GATA1	2623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	48650342	48650342	+	Silent	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	ENST00000376670.3	+	3	423	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GATA1_ENST00000376665.3_Silent_p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	104					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	3	Unknown(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(3)											53.0	49.0	50.0					X																	48650342		2203	4300	6503	SO:0001819	synonymous_variant	2623			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.312C>T	X.37:g.48650342C>T			Q96GB8	Silent	SNP	ENST00000376670.3	37	CCDS14305.1																																																																																				0.597	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		12	53	12	53
TCEAL3	85012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	102864217	102864217	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	ENST00000372628.1	+	3	583	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000243286.3_Silent_p.E75E			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	75	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622																																																0													118.0	98.0	105.0					X																	102864217		2203	4300	6503	SO:0001819	synonymous_variant	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.225G>A	X.37:g.102864217G>A			D3DXA4	Silent	SNP	ENST00000372628.1	37	CCDS14511.1																																																																																				0.622	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		44	166	44	166
FLNA	2316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	ENST00000369850.3	-	22	3915	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R|FLNA_ENST00000422373.1_Missense_Mutation_p.G1227R|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637																																																0													37.0	43.0	41.0					X																	153588484		2063	4170	6233	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3679G>A	X.37:g.153588484C>T	ENSP00000358866:p.Gly1227Arg		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635425	0.67130	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.82	4.8	4.8	0.61643	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	.	17.1938	0.86887	0.0:1.0:0.0:0.0	.	1227;1227	P21333-2;P21333	.;FLNA_HUMAN	R	1227;1200;1227;1227;1227	ENSP00000353467:G1227R;ENSP00000416926:G1227R;ENSP00000358866:G1227R;ENSP00000358863:G1227R	ENSP00000358863:G1227R	G	-	1	0	FLNA	153241678	1.000000	0.71417	0.980000	0.43619	0.497000	0.33675	6.063000	0.71162	1.981000	0.57761	0.436000	0.28706	GGG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			15	80	15	80
TSGA10IP	254187	broad.mit.edu;ucsc.edu	37	11	65714852	65714852	+	RNA	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	ENST00000532620.1	+	0	787				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637																																																0													18.0	22.0	21.0					11																	65714852		1930	4147	6077			254187			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714852G>A			Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	ENST00000532620.1	37																																																																																					0.637	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		5	18	5	18
CHMP4C	92421	broad.mit.edu;ucsc.edu	37	8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A	rs528902989		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	ENST00000297265.4	+	3	617	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	142	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		15769	0.001		0.0	False		,,,				2504	0.0															0													143.0	123.0	130.0					8																	82667660		2203	4300	6503	SO:0001583	missense	92421			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.424G>A	8.37:g.82667660G>A	ENSP00000297265:p.Ala142Thr		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502675	0.96371	.	.	ENSG00000164695	ENST00000297265	T	0.73789	-0.78	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85733	0.5765	M	0.80508	2.5	0.80722	D	1	D	0.55605	0.972	P	0.59012	0.85	D	0.86119	0.1567	10	0.52906	T	0.07	-16.4407	19.6761	0.95934	0.0:0.0:1.0:0.0	.	142	Q96CF2	CHM4C_HUMAN	T	142	ENSP00000297265:A142T	ENSP00000297265:A142T	A	+	1	0	CHMP4C	82830215	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	9.864000	0.99589	2.647000	0.89833	0.591000	0.81541	GCC		0.378	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		19	75	19	75
APOBR	55911	broad.mit.edu;ucsc.edu	37	16	28508034	28508034	+	Missense_Mutation	SNP	G	G	A	rs374018714		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:28508034G>A	ENST00000431282.1	+	3	1655	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.V558I|APOBR_ENST00000328423.5_Missense_Mutation_p.V549I|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	549	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CACACACAGCGTCACCAAAGG	0.642																																																0								A	ILE/VAL	1,4079		0,1,2039	11.0	12.0	12.0		1645	0.1	0.0	16		12	0,8384		0,0,4192	no	missense	APOBR	NM_018690.3	29	0,1,6231	AA,AG,GG		0.0,0.0245,0.0080	possibly-damaging	549/1089	28508034	1,12463	2040	4192	6232	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1645G>A	16.37:g.28508034G>A	ENSP00000416094:p.Val549Ile		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37		.	.	.	.	.	.	.	.	.	.	g	10.76	1.441708	0.25900	2.45E-4	0.0	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.68624	-0.34;-0.34	4.76	0.0565	0.14319	.	.	.	.	.	T	0.43144	0.1234	N	0.16656	0.425	0.09310	N	1	B;P	0.36125	0.366;0.538	B;B	0.32211	0.046;0.142	T	0.22765	-1.0207	9	0.40728	T	0.16	-0.5754	5.8461	0.18667	0.2855:0.1463:0.5682:0.0	.	549;549	Q0VD83;Q9NS13	APOBR_HUMAN;.	I	549	ENSP00000327669:V549I;ENSP00000416094:V549I	ENSP00000327669:V549I	V	+	1	0	APOBR	28415535	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.078000	0.11375	0.085000	0.17107	0.406000	0.27484	GTC		0.642	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		5	7	5	7
SLC27A4	10999	broad.mit.edu;ucsc.edu	37	9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	ENST00000300456.4	+	12	1852	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	579					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637																																					Pancreas(107;1554 2241 10946 12953)											0													93.0	82.0	86.0					9																	131118036		2203	4300	6503	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1735C>T	9.37:g.131118036C>T	ENSP00000300456:p.Pro579Ser		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	ENST00000300456.4	37	CCDS6899.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327486	0.81690	.	.	ENSG00000167114	ENST00000372870;ENST00000300456	T;T	0.73152	-0.72;-0.72	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94489	0.7700	10	0.87932	D	0	-34.2893	17.3653	0.87362	0.0:1.0:0.0:0.0	.	173;579	Q96G53;Q6P1M0	.;S27A4_HUMAN	S	173;579	ENSP00000361961:P173S;ENSP00000300456:P579S	ENSP00000300456:P579S	P	+	1	0	SLC27A4	130157857	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.549000	0.60726	2.563000	0.86464	0.563000	0.77884	CCC		0.637	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			14	72	14	72
CLEC14A	161198	broad.mit.edu;ucsc.edu	37	14	38724436	38724436	+	Silent	SNP	G	G	A			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	ENST00000342213.2	-	1	1138	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637																																																0													84.0	92.0	89.0					14																	38724436		2203	4299	6502	SO:0001819	synonymous_variant	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.792C>T	14.37:g.38724436G>A			Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.637	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		61	108	61	108
MYOCD	93649	broad.mit.edu;ucsc.edu	37	17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	ENST00000343344.4	+	10	1319	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	MYOCD_ENST00000425538.1_Missense_Mutation_p.S440T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S344T|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	440	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587																																																0													137.0	120.0	126.0					17																	12655924		2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1319G>C	17.37:g.12655924G>C	ENSP00000341835:p.Ser440Thr		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	1.992	-0.431488	0.04669	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.42513	0.97;0.97	5.29	5.29	0.74685	.	0.129568	0.64402	D	0.000001	T	0.36386	0.0965	N	0.17345	0.48	0.33172	D	0.548342	P;P;P;P	0.52577	0.761;0.921;0.954;0.761	B;P;P;B	0.49421	0.282;0.61;0.555;0.352	T	0.33085	-0.9882	10	0.17369	T	0.5	-6.3767	17.6937	0.88276	0.0:0.0:1.0:0.0	.	159;344;440;440	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	T	159;440;440;344;145	ENSP00000341835:S440T;ENSP00000400148:S145T	ENSP00000341835:S440T	S	+	2	0	MYOCD	12596649	1.000000	0.71417	0.527000	0.27925	0.026000	0.11368	7.221000	0.78016	2.475000	0.83589	0.591000	0.81541	AGT		0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		34	99	34	99
HUWE1	10075	broad.mit.edu;ucsc.edu	37	X	53654434	53654434	+	Silent	SNP	C	C	T	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	ENST00000342160.3	-	16	1873	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P	HUWE1_ENST00000262854.6_Silent_p.P472P|HUWE1_ENST00000218328.8_Silent_p.P472P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318																																																0										3,3832		0,3,1629,571	191.0	161.0	171.0		1416	-2.3	1.0	X	dbSNP_134	171	0,6728		0,0,2428,1872	no	coding-synonymous	HUWE1	NM_031407.4		0,3,4057,2443	TT,TC,CC,C		0.0,0.0782,0.0284		472/4375	53654434	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1416G>A	X.37:g.53654434C>T			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	t	10.43	1.347646	0.24426	7.82E-4	0.0	ENSG00000086758	ENST00000424562	.	.	.	4.79	-2.29	0.06805	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	2.1496	0.03796	0.5254:0.0908:0.207:0.1768	.	.	.	.	I	70	.	.	V	-	1	0	HUWE1	53671159	0.995000	0.38212	0.990000	0.47175	0.982000	0.71751	0.292000	0.19011	-0.692000	0.05128	-0.448000	0.05591	GTT		0.318	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		22	84	22	84
SLC7A3	84889	broad.mit.edu;ucsc.edu	37	X	70148064	70148064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	ENST00000374299.3	-	5	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	251					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498																																																0													66.0	55.0	59.0					X																	70148064		2203	4300	6503	SO:0001583	missense	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.751G>A	X.37:g.70148064C>T	ENSP00000363417:p.Glu251Lys		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	6.651	0.488676	0.12641	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89552	-2.53;-2.53	4.92	-0.314	0.12750	Amino acid permease domain (1);	0.973647	0.08516	N	0.934228	T	0.79545	0.4464	N	0.15975	0.35	0.09310	N	1	B	0.12013	0.005	B	0.16289	0.015	T	0.59166	-0.7505	10	0.23891	T	0.37	.	13.0568	0.58984	0.0:0.3393:0.5888:0.0719	.	251	Q8WY07	CTR3_HUMAN	K	251	ENSP00000363417:E251K;ENSP00000298085:E251K	ENSP00000298085:E251K	E	-	1	0	SLC7A3	70064789	0.000000	0.05858	0.012000	0.15200	0.539000	0.34962	-0.250000	0.08830	-0.419000	0.07439	-0.347000	0.07816	GAG		0.498	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		4	26	4	26
NRROS	375387	broad.mit.edu;ucsc.edu	37	3	196387770	196387770	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:196387770C>T	ENST00000328557.4	+	3	1459	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	419					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGCGTCCCCCCTGGCCTCTTC	0.637																																																0													87.0	92.0	90.0					3																	196387770		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1256C>T	3.37:g.196387770C>T	ENSP00000328625:p.Pro419Leu			Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	4.361	0.066474	0.08388	.	.	ENSG00000174004	ENST00000328557	T	0.00840	5.63	6.03	2.22	0.28083	.	1.111250	0.06516	N	0.738914	T	0.01800	0.0057	M	0.70275	2.135	0.22629	N	0.998916	B	0.15930	0.015	B	0.18871	0.023	T	0.48007	-0.9072	10	0.42905	T	0.14	.	6.6521	0.22967	0.3641:0.5098:0.0:0.1262	.	419	Q86YC3	LRC33_HUMAN	L	419	ENSP00000328625:P419L	ENSP00000328625:P419L	P	+	2	0	LRRC33	197872167	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	2.062000	0.41413	0.125000	0.18397	-0.181000	0.13052	CCT		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		35	109	35	109
PNMA3	29944	broad.mit.edu;ucsc.edu	37	X	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	ENST00000370264.4	+	1	1248	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W|PNMA3_ENST00000447306.1_Missense_Mutation_p.R408W			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	408	Arg-rich.				positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577																																																0								C	TRP/ARG	0,3835		0,0,0,1632,571	72.0	74.0	74.0		1222	1.1	0.0	X	dbSNP_134	74	2,6726		0,1,1,2427,1871	no	missense	PNMA3	NM_013364.4	101	0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189	possibly-damaging	408/464	152226634	2,10561	2203	4300	6503	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1222C>T	X.37:g.152226634C>T	ENSP00000359286:p.Arg408Trp		D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	9.581	1.123669	0.20959	0.0	2.97E-4	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.21543	2.0;2.03;2.03	1.99	1.11	0.20524	Zinc finger, CCHC retroviral-type (1);	.	.	.	.	T	0.13500	0.0327	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.27400	-1.0075	9	0.87932	D	0	.	4.0387	0.09741	0.0:0.7774:0.0:0.2226	.	408	Q9UL41	PNMA3_HUMAN	W	408	ENSP00000359288:R408W;ENSP00000407642:R408W;ENSP00000359286:R408W	ENSP00000359286:R408W	R	+	1	2	PNMA3	151977290	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	0.181000	0.16880	0.312000	0.23038	0.287000	0.19450	CGG		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		36	108	36	108
MFGE8	4240	broad.mit.edu;ucsc.edu	37	15	89453060	89453060	+	Silent	SNP	C	C	T	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	ENST00000566497.1	-	2	229	c.168G>A	c.(166-168)acG>acA	p.T56T	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000539437.1_Silent_p.T48T|MFGE8_ENST00000268151.7_Silent_p.T56T|MFGE8_ENST00000268150.8_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	56	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557													C|||	6	0.00119808	0.0	0.0	5008	,	,		22476	0.0		0.006	False		,,,				2504	0.0															0								C	,	0,4400		0,0,2200	176.0	138.0	151.0		168,168	-1.8	0.0	15	dbSNP_134	151	18,8580	12.6+/-44.7	0,18,4281	no	coding-synonymous,coding-synonymous	MFGE8	NM_001114614.1,NM_005928.2	,	0,18,6481	TT,TC,CC		0.2094,0.0,0.1385	,	56/336,56/388	89453060	18,12980	2200	4299	6499	SO:0001819	synonymous_variant	4240			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.168G>A	15.37:g.89453060C>T			B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																				0.557	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		21	84	21	84
MRPL41	64975	broad.mit.edu;hgsc.bcm.edu	37	9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-	rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	ENST00000371443.5	+	2	1051	c.263delC	c.(262-264)gccfs	p.A89fs	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	89					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627																																																0													40.0	35.0	37.0					9																	140446796		2201	4298	6499	SO:0001589	frameshift_variant	64975			AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.263delC	9.37:g.140446796delC	ENSP00000360498:p.Ala89fs		Q96Q49	Frame_Shift_Del	DEL	ENST00000371443.5	37	CCDS7046.1																																																																																				0.627	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		10	44	10	44
